Showing drug card for Glycine (DB00145)

• NUTR00028

• Approved
• Nutraceutical
• Small Molecule

1. 2-Aminoacetic acid
2. Aminoacetic acid
3. Aminoethanoic acid
4. Gly

1. Aciport
2. Glicoamin
3. Glycocoll
4. Glycolixir
5. Glycosthene
6. Gyn-Hydralin
7. Padil

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• Dietary supplement
• Glycine Agents
• Micronutrient
• Non-Essential Amino Acids

• B03AA01
• B05CX03

• 40:36.00

1. Wikipedia
2. PDRhealth

• Humans and other mammals

1. Glycine receptor subunit beta
2. Alanine--glyoxylate aminotransferase 2, mitochondrial
3. Glutathione synthetase
4. Serine hydroxymethyltransferase, mitochondrial
5. Serine--pyruvate aminotransferase
6. Serine hydroxymethyltransferase, cytosolic
7. Glycine amidinotransferase, mitochondrial
8. Glycine N-methyltransferase
9. 5-aminolevulinate synthase, nonspecific, mitochondrial
10. Glycine receptor subunit alpha-3
11. Glycine receptor subunit alpha-1
12. Glutamate [NMDA] receptor subunit epsilon-3
13. 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial
14. Glutamate [NMDA] receptor subunit 3B
15. Proton-coupled amino acid transporter 1
16. Glycine dehydrogenase [decarboxylating], mitochondrial
17. Glycine receptor subunit alpha-2
18. Glutamate [NMDA] receptor subunit epsilon-1
19. 5-aminolevulinate synthase, erythroid-specific, mitochondrial
20. Sodium- and chloride-dependent glycine transporter 1
21. Glycyl-tRNA synthetase
22. Serine hydroxymethyltransferase 2
23. SHMT2 protein
24. Hypothetical protein DKFZp686P09201
25. SHMT2 protein
26. Glycine cleavage system H protein, mitochondrial
27. Bile acid CoA:amino acid N-acyltransferase
28. N-arachidonyl glycine receptor
29. Glycine N-acyltransferase
30. Glycine N-acyltransferase-like protein 2
31. Glycine N-acyltransferase-like protein 1
32. Vesicular inhibitory amino acid transporter
33. Peroxisomal sarcosine oxidase
34. Sodium- and chloride-dependent glycine transporter 2

1. Glycine receptor 58 kDa subunit
2. Glycine receptor subunit beta precursor

MKFLLTTAFLILISLWVEEAYSKEKSSKKGKGKKKQYLCPSQQSAEDLARVPANSTSNIL
NRLLVSYDPRIRPNFKGIPVDVVVNIFINSFGSIQETTMDYRVNIFLRQKWNDPRLKLPS
DFRGSDALTVDPTMYKCLWKPDLFFANEKSANFHDVTQENILLFIFRDGDVLVSMRLSIT
LSCPLDLTLFPMDTQRCKMQLESFGYTTDDLRFIWQSGDPVQLEKIALPQFDIKKEDIEY
GNCTKYYKGTGYYTCVEVIFTLRRQVGFYMMGVYAPTLLIVVLSWLSFWINPDASAARVP
LGIFSVLSLASECTTLAAELPKVSYVKALDVWLIACLLFGFASLVEYAVVQVMLNNPKRV
EAEKARIAKAEQADGKGGNVAKKNTVNGTGTPVHISTLQVGETRCKKVCTSKSDLRSNDF
SIVGSLPRDFELSNYDCYGKPIEVNNGLGKSQAKNNKKPPPAKPVIPTAAKRIDLYARAL
FPFCFLFFNVIYWSIYL

• Neur_chan_LBD (PF02931 )
• Neur_chan_memb (PF02932 )

• 1-22

• 266-290
• 299-316
• 331-354
• 479-496

• Membrane
• multi-pass membrane protein

ATGAAGTTTTTATTGACAACTGCCTTTTTAATTTTAATTTCCTTGTGGGTGGAAGAAGCC
TATTCTAAGGAAAAGTCTTCAAAGAAAGGGAAGGGGAAAAAGAAGCAGTATCTATGCCCA
TCTCAGCAGTCAGCAGAGGACCTTGCCCGAGTACCTGCCAACTCCACTAGCAATATCTTG
AACAGGTTATTGGTCAGTTATGATCCCAGGATAAGACCAAACTTCAAAGGCATTCCTGTT
GATGTAGTAGTCAACATTTTTATTAACAGTTTTGGATCCATTCAAGAAACAACAATGGAC
TATAGAGTTAACATCTTCCTGAGACAAAAATGGAATGACCCCAGGCTGAAGCTCCCCAGT
GATTTTAGGGGTTCAGATGCACTGACAGTGGATCCAACAATGTACAAGTGTTTATGGAAA
CCTGATTTATTTTTTGCAAATGAAAAAAGTGCCAATTTTCATGATGTGACCCAGGAAAAC
ATCCTCCTCTTTATTTTTCGTGATGGAGATGTCCTTGTCAGCATGAGGTTATCTATTACT
CTTTCATGCCCTTTGGACTTGACATTGTTTCCCATGGATACACAACGTTGCAAGATGCAA
CTGGAGAGCTTTGGTTACACAACTGATGATTTACGATTTATCTGGCAGTCAGGAGATCCT
GTGCAATTAGAAAAAATTGCCTTGCCTCAATTTGATATCAAAAAGGAAGATATTGAATAT
GGTAACTGTACAAAATACTATAAAGGCACGGGCTACTACACATGCGTGGAAGTCATCTTC
ACCCTGAGGAGGCAGGTCGGCTTTTACATGATGGGGGTCTACGCCCCAACCCTGCTCATT
GTTGTTCTCTCCTGGCTTTCCTTCTGGATCAACCCGGACGCGAGTGCTGCCAGAGTGCCC
CTGGGTATCTTCTCAGTCCTCAGCTTGGCCTCTGAGTGCACAACCCTTGCCGCTGAGCTT
CCCAAAGTTTCCTATGTGAAGGCTCTTGATGTTTGGCTTATTGCTTGCCTTCTCTTTGGG
TTTGCTTCCCTGGTGGAGTATGCAGTTGTCCAGGTGATGCTGAACAACCCCAAAAGGGTT
GAAGCTGAAAAAGCCAGAATTGCTAAGGCTGAGCAAGCAGATGGAAAAGGTGGAAATGTG
GCTAAAAAGAATACTGTGAATGGAACAGGGACTCCTGTTCATATTAGCACTTTGCAGGTT
GGTGAGACCAGATGCAAAAAAGTTTGTACTTCTAAGTCTGATCTGAGATCTAATGACTTC
AGCATTGTTGGAAGCTTACCAAGAGATTTTGAACTATCCAATTATGACTGCTATGGAAAA
CCCATTGAAGTTAACAACGGACTTGGGAAATCTCAGGCTAAGAACAACAAGAAGCCTCCC
CCTGCGAAACCTGTTATTCCAACAGCAGCAAAGCGAATTGATCTTTATGCAAGAGCATTG
TTTCCTTTCTGCTTCTTGTTCTTCAATGTTATATATTGGTCTATATATTTATGA

1. Handford CA, Lynch JW, Baker E, Webb GC, Ford JH, Sutherland GR, Schofield PR: The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. Brain Res Mol Brain Res. 1996 Jan;35(1-2):211-9. [PubMed ]
2. Milani N, Mulhardt C, Weber RG, Lichter P, Kioschis P, Poustka A, Becker CM: The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism. Genomics. 1998 Jun 15;50(3):341-5. [PubMed ]

1. Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H: Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. Biochem Biophys Res Commun. 2006 Sep 22;348(2):400-5. Epub 2006 Jul 26. [PubMed ]

1. (R)-3-amino-2-methylpropionate--pyruvate transaminase
2. AGT 2
3. Alanine--glyoxylate aminotransferase 2, mitochondrial precursor
4. Beta- ALAAT II
5. Beta-alanine-pyruvate aminotransferase
6. D-AIBAT
7. EC 2.6.1.40
8. EC 2.6.1.44

MTLIWRHLLRPLCLVTSAPRILEMHPFLSLGTSRTSVTKLSLHTKPRMPPCDFMPERYQS
LGYNRVLEIHKEHLSPVVTAYFQKPLLLHQGHMEWLFDAEGSRYLDFFSGIVTVSVGHCH
PKVNAVAQKQLGRLWHTSTVFFHPPMHEYAEKLAALLPEPLKVIFLVNSGSEANELAMLM
ARAHSNNIDIISFRGAYHGCSPYTLGLTNVGTYKMELPGGTGCQPTMCPDVFRGPWGGSH
CRDSPVQTIRKCSCAPDCCQAKDQYIEQFKDTLSTSVAKSIAGFFAEPIQGVNGVVQYPK
GFLKEAFELVRARGGVCIADEVQTGFGRLGSHFWGFQTHDVLPDIVTMAKGIGNGFPMAA
VITTPEIAKSLAKCLQHFNTFGGNPMACAIGSAVLEVIKEENLQENSQEVGTYMLLKFAK
LRDEFEIVGDVRGKGLMIGIEMVQDKISCRPLPREEVNQIHEDCKHMGLLVGRGSIFSQT
FRIAPSMCITKPEVDFAVEVFRSALTQHMERRAK

• (R)-3-amino-2-methylpropanoate + pyruvate = 2-methyl-3-oxopropanoate + L-alanine

• Aminotran_3 (PF00202 )

• None

• None

• Mitochondrion (Potential)

ATGACTCTAATCTGGAGACATTTGCTGAGACCCTTGTGCCTGGTCACTTCCGCTCCCAGG
ATCCTTGAGATGCATCCTTTCCTGAGCCTAGGTACTTCCCGGACATCAGTAACCAAGCTC
AGTCTTCATACAAAGCCCAGAATGCCTCCATGTGACTTCATGCCTGAAAGATACCAGTCC
CTTGGCTACAACCGTGTCCTGGAAATCCACAAGGAACATCTTTCTCCTGTGGTGACGGCA
TATTTCCAGAAACCCCTGCTGCTCCACCAGGGGCACATGGAGTGGCTCTTTGATGCTGAA
GGAAGCAGATACCTGGATTTCTTTTCCGGGATTGTTACTGTCAGTGTTGGCCATTGCCAC
CCAAAGGTGAATGCAGTGGCACAAAAGCAGCTCGGCCGCCTGTGGCATACAAGCACCGTC
TTCTTCCACCCTCCAATGCATGAATATGCAGAGAAGCTTGCCGCACTTCTTCCTGAGCCT
CTTAAGGTCATTTTCTTGGTGAACAGTGGCTCAGAAGCCAATGAGCTGGCCATGCTGATG
GCCAGGGCGCACTCAAACAACATAGACATCATTTCTTTCAGAGGAGCCTACCATGGATGC
AGTCCTTACACACTTGGCTTGACAAACGTAGGGACCTACAAGATGGAACTCCCTGGTGGG
ACAGGTTGCCAACCAACAATGTGTCCAGATGTTTTTCGTGGCCCTTGGGGAGGAAGCCAC
TGTCGAGATTCTCCAGTGCAAACAATCAGGAAGTGCAGCTGTGCACCAGACTGCTGCCAA
GCTAAAGATCAGTATATTGAGCAATTCAAAGATACGCTGAGCACATCTGTGGCCAAGTCA
ATTGCTGGATTTTTCGCAGAACCTATTCAAGGTGTGAATGGAGTTGTCCAGTACCCAAAG
GGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGAT
GAAGTGCAGACAGGATTTGGAAGGTTGGGCTCTCACTTCTGGGGCTTCCAAACCCACGAT
GTCCTGCCTGACATTGTCACCATGGCTAAAGGGATTGGGAATGGCTTTCCCATGGCAGCA
GTCATAACCACTCCAGAGATTGCCAAATCTTTGGCGAAATGCCTGCAGCACTTCAACACC
TTTGGAGGGAACCCCATGGCCTGTGCCATTGGATCTGCTGTGCTTGAGGTGATTAAAGAA
GAAAATCTACAGGAAAACAGTCAAGAAGTTGGGACCTACATGTTACTAAAGTTTGCTAAG
CTGCGGGATGAATTTGAAATTGTTGGAGACGTCCGAGGCAAAGGTCTCATGATAGGCATA
GAAATGGTGCAGGATAAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATC
CATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGACA
TTTCGCATTGCGCCCTCAATGTGCATCACTAAACCAGAAGTTGATTTTGCAGTAGAAGTA
TTTCGTTCTGCCTTAACCCAACACATGGAAAGAAGAGCTAAGTAA

1. Baker PR, Cramer SD, Kennedy M, Assimos DG, Holmes RP: Glycolate and glyoxylate metabolism in HepG2 cells. Am J Physiol Cell Physiol. 2004 Nov;287(5):C1359-65. Epub 2004 Jul 7. [PubMed ]
2. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
3. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]
4. Takada Y, Mori T, Noguchi T: The effect of vitamin B6 deficiency on alanine: glyoxylate aminotransferase isoenzymes in rat liver. Arch Biochem Biophys. 1984 Feb 15;229(1):1-6. [PubMed ]

1. EC 6.3.2.3
2. GSH synthetase
3. GSH-S
4. Glutathione synthase

MATNWGSLLQDKQQLEELARQAVDRALAEGVLLRTSQEPTSSEVVSYAPFTLFPSLVPSA
LLEQAYAVQMDFNLLVDAVSQNAAFLEQTLSSTIKQDDFTARLFDIHKQVLKEGIAQTVF
LGLNRSDYMFQRSADGSPALKQIEINTISASFGGLASRTPAVHRHVLSVLSKTKEAGKIL
SNNPSKGLALGIAKAWELYGSPNALVLLIAQEKERNIFDQRAIENELLARNIHVIRRTFE
DISEKGSLDQDRRLFVDGQEIAVVYFRDGYMPRQYSLQNWEARLLLERSHAAKCPDIATQ
LAGTKKVQQELSRPGMLEMLLPGQPEAVARLRATFAGLYSLDVGEEGDQAIAEALAAPSR
FVLKPQREGGGNNLYGEEMVQALKQLKDSEERASYILMEKIEPEPFENCLLRPGSPARVV
QCISELGIFGVYVRQEKTLVMNKHVGHLLRTKAIEHADGGVAAGVAVLDNPYPV

• ATP + gamma-L-glutamyl-L-cysteine + glycine = ADP + phosphate + glutathione

• GSH_synthase (PF03199 )
• GSH_synth_ATP (PF03917 )

• None

• None

ATGGCCACCAACTGGGGGAGCCTCTTGCAGGATAAACAGCAGCTAGAGGAGCTGGCACGG
CAGGCCGTGGACCGGGCCCTGGCTGAGGGAGTATTGCTGAGGACCTCACAGGAGCCCACT
TCCTCGGAGGTGGTGAGCTATGCCCCATTCACGCTCTTCCCCTCACTGGTCCCCAGTGCC
CTGCTGGAGCAAGCCTATGCTGTGCAGATGGACTTCAACCTGCTAGTGGATGCTGTCAGC
CAGAACGCTGCCTTCCTGGAGCAAACTCTTTCCAGCACCATCAAACAGGATGACTTTACC
GCTCGTCTCTTTGACATCCACAAGCAAGTCCTAAAAGAGGGCATTGCCCAGACTGTGTTC
CTGGGCCTGAATCGCTCAGACTACATGTTCCAGCGCAGCGCAGATGGCTCCCCAGCCCTG
AAACAGATCGAAATCAACACCATCTCTGCCAGCTTTGGGGGCCTGGCCTCCCGGACCCCA
GCTGTGCACCGACATGTTCTCAGTGTCCTGAGTAAGACCAAAGAAGCTGGCAAGATCCTC
TCTAATAATCCCAGCAAGGGACTGGCCCTGGGAATTGCCAAAGCCTGGGAGCTCTACGGC
TCACCCAATGCTCTGGTGCTACTGATTGCTCAAGAGAAGGAAAGAAACATATTTGACCAG
CGTGCCATAGAGAATGAGCTACTGGCCAGGAACATCCATGTGATCCGACGAACATTTGAA
GATATCTCTGAAAAGGGGTCTCTGGACCAAGACCGAAGGCTGTTTGTGGATGGCCAGGAA
ATTGCTGTGGTTTACTTCCGGGATGGCTACATGCCTCGTCAGTACAGTCTACAGAATTGG
GAAGCACGTCTACTGCTGGAGAGGTCACATGCTGCCAAGTGCCCAGACATTGCCACCCAG
CTGGCTGGGACTAAGAAGGTGCAGCAGGAGCTAAGCAGGCCGGGCATGCTGGAGATGTTG
CTCCCTGGCCAGCCTGAGGCTGTGGCCCGCCTCCGCGCCACCTTTGCTGGCCTCTACTCA
CTGGATGTGGGTGAAGAAGGGGACCAGGCCATCGCCGAGGCCCTTGCTGCCCCTAGCCGG
TTTGTGCTAAAGCCCCAGAGAGAGGGTGGAGGTAACAACCTATATGGGGAGGAAATGGTA
CAGGCCCTGAAACAGCTGAAGGACAGTGAGGAGAGGGCCTCCTACATCCTCATGGAGAAG
ATCGAACCTGAGCCTTTTGAGAATTGCCTGCTACGGCCTGGCAGCCCTGCCCGAGTGGTC
CAGTGCATTTCAGAGCTGGGCATCTTTGGGGTCTATGTCAGGCAGGAAAAGACACTCGTG
ATGAACAAGCACGTGGGGCATCTACTTCGAACCAAAGCCATCGAGCATGCAGATGGTGGT
GTGGCAGCGGGAGTGGCAGTCCTGGACAACCCATACCCTGTGTGA

1. Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. [PubMed ]
2. Gali RR, Board PG: Sequencing and expression of a cDNA for human glutathione synthetase. Biochem J. 1995 Aug 15;310 ( Pt 1):353-8. [PubMed ]
3. Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW: Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet. 1996 Nov;14(3):361-5. [PubMed ]
4. Dahl N, Pigg M, Ristoff E, Gali R, Carlsson B, Mannervik B, Larsson A, Board P: Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. Hum Mol Genet. 1997 Jul;6(7):1147-52. [PubMed ]

1. Ducruix C, Junot C, Fievet JB, Villiers F, Ezan E, Bourguignon J: New insights into the regulation of phytochelatin biosynthesis in A. thaliana cells from metabolite profiling analyses. Biochimie. 2006 Nov;88(11):1733-42. Epub 2006 Sep 7. [PubMed ]
2. Pai CH, Chiang BY, Ko TP, Chou CC, Chong CM, Yen FJ, Chen S, Coward JK, Wang AH, Lin CH: Dual binding sites for translocation catalysis by Escherichia coli glutathionylspermidine synthetase. EMBO J. 2006 Dec 13;25(24):5970-82. Epub 2006 Nov 23. [PubMed ]
3. Ristoff E, Larsson A: Inborn errors in the metabolism of glutathione. Orphanet J Rare Dis. 2007 Mar 30;2:16. [PubMed ]
4. Janaky R, Dohovics R, Saransaari P, Oja SS: Modulation of [3H]dopamine release by glutathione in mouse striatal slices. Neurochem Res. 2007 Aug;32(8):1357-64. Epub 2007 Mar 31. [PubMed ]
5. Herrera K, Cahoon RE, Kumaran S, Jez J: Reaction mechanism of glutathione synthetase from Arabidopsis thaliana: site-directed mutagenesis of active site residues. J Biol Chem. 2007 Jun 8;282(23):17157-65. Epub 2007 Apr 22. [PubMed ]

1. EC 2.1.2.1
2. Glycine hydroxymethyltransferase
3. SHMT
4. Serine hydroxymethyltransferase, mitochondrial precursor
5. Serine methylase

MLYFSLFWAARPLQRCGQLVRMAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELL
QREKDRQCRGLELIASENFCSRAALEALGSCLNNKYSEGYPGKRYYGGAEVVDEIELLCQ
RRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDV
KRISATSIFFESMPYKLNPKTGLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREV
CDEVKAHLLADMAHISGLVAAKVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVD
PKTGREIPYTFEDRINFAVFPSLQGGPHNHAIAAVAVALKQACTPMFREYSLQVLKNARA
MADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAIT
PGGLRLGAPALTSRQFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQ
RLANLRQRVEQFARAFPMPGFDEH

• 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine

• SHMT (PF00464 )

• None

• None

• Mitochondrion

ATGGCCATTCGGGCTCAGCACAGCAACGCAGCCCAGACTCAGACTGGGGAAGCAAACAGG
GGCTGGACAGGCCAGGAGAGCCTGTCGGACAGTGATCCTGAGATGTGGGAGTTGCTGCAG
AGGGAGAAGGACAGGCAGTGTCGTGGCCTGGAGCTCATTGCCTCAGAGAACTTCTGCAGC
CGAGCTGCGCTGGAGGCCCTGGGGTCCTGTCTGAACAACAAGTACTCGGAGGGTTATCCT
GGCAAGAGATACTATGGGGGAGCAGAGGTGGTGGATGAAATTGAGCTGCTGTGCCAGCGC
CGGGCCTTGGAAGCCTTTGACCTGGATCCTGCACAGTGGGGAGTCAATGTCCAGCCCTAC
TCCGGGTCCCCAGCCAACCTGGCCGTCTACACAGCCCTTCTGCAACCTCACGACCGGATC
ATGGGGCTGGACCTGCCCGATGGGGGCCATCTCACCCACGGCTACATGTCTGACGTCAAG
CGGATATCAGCCACGTCCATCTTCTTCGAGTCTATGCCCTATAAGCTCAACCCCAAAACT
GGCCTCATTGACTACAACCAGCTGGCACTGACTGCTCGACTTTTCCGGCCACGGCTCATC
ATAGCTGGCACCAGCGCCTATGCTCGCCTCATTGACTACGCCCGCATGAGAGAGGTGTGT
GATGAAGTCAAAGCACACCTGCTGGCAGACATGGCCCACATCAGTGGCCTGGTGGCTGCC
AAGGTGATTCCCTCGCCTTTCAAGCACGCGGACATCGTCACCACCACTACTCACAAGACT
CTTCGAGGGGCCAGGTCAGGGCTCATCTTCTACCGGAAAGGGGTGAAGGCTGTGGACCCC
AAGACTGGCCGGGAGATCCCTTACACATTTGAGGACCGAATCAACTTTGCCGTGTTCCCA
TCCCTGCAGGGGGGCCCCCACAATCATGCCATTGCTGCAGTAGCTGTGGCCCTAAAGCAG
GCCTGCACCCCCATGTTCCGGGAGTACTCCCTGCAGGTTCTGAAGAATGCTCGGGCCATG
GCAGATGCCCTGCTAGAGCGAGGCTACTCACTGGTATCAGGTGGTACTGACAACCACCTG
GTGCTGGTGGACCTGCGGCCCAAGGGCCTGGATGGAGCTCGGGCTGAGCGGGTGCTAGAG
CTTGTATCCATCACTGCCAACAAGAACACCTGTCCTGGAGACCGAAGTGCCATCACACCG
GGCGGCCTGCGGCTTGGGGCCCCAGCCTTAACTTCTCGACAGTTCCGTGAGGATGACTTC
CGGAGAGTTGTGGACTTTATAGATGAAGGGGTCAACATTGGCTTAGAGGTGAAGAGCAAG
ACTGCCAAGCTCCAGGATTTCAAATCCTTCCTGCTTAAGGACTCAGAAACAAGTCAGCGT
CTGGCCAACCTCAGGCAACGGGTGGAGCAGTTTGCCAGGGCCTTCCCCATGCCTGGTTTT
GATGAGCATTGA

1. Snell K, Baumann U, Byrne PC, Chave KJ, Renwick SB, Sanders PG, Whitehouse SK: The genetic organization and protein crystallographic structure of human serine hydroxymethyltransferase. Adv Enzyme Regul. 2000;40:353-403. [PubMed ]
2. Garrow TA, Brenner AA, Whitehead VM, Chen XN, Duncan RG, Korenberg JR, Shane B: Cloning of human cDNAs encoding mitochondrial and cytosolic serine hydroxymethyltransferases and chromosomal localization. J Biol Chem. 1993 Jun 5;268(16):11910-6. [PubMed ]
3. Stover PJ, Chen LH, Suh JR, Stover DM, Keyomarsi K, Shane B: Molecular cloning, characterization, and regulation of the human mitochondrial serine hydroxymethyltransferase gene. J Biol Chem. 1997 Jan 17;272(3):1842-8. [PubMed ]

1. Gagnon D, Foucher A, Girard I, Ouellette M: Stage specific gene expression and cellular localization of two isoforms of the serine hydroxymethyltransferase in the protozoan parasite Leishmania. Mol Biochem Parasitol. 2006 Nov;150(1):63-71. Epub 2006 Jul 13. [PubMed ]
2. Vatsyayan R, Roy U: Molecular cloning and biochemical characterization of Leishmania donovani serine hydroxymethyltransferase. Protein Expr Purif. 2007 Apr;52(2):433-40. Epub 2006 Oct 26. [PubMed ]
3. Rajinikanth M, Harding SA, Tsai CJ: The glycine decarboxylase complex multienzyme family in Populus. J Exp Bot. 2007;58(7):1761-70. Epub 2007 Mar 12. [PubMed ]

1. AGT
2. Alanine-- glyoxylate aminotransferase
3. EC 2.6.1.44
4. EC 2.6.1.51
5. SPT

MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEI
KEGIQYVFQTRNPLTLVISGSGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIG
ARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESSTGVLQPLDGFGELCHRYKCLL
LVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHG
RLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLR
IGLLGCNATRENVDRVTEALRAALQHCPKKKL

• L-alanine + glyoxylate = pyruvate + glycine

• Aminotran_5 (PF00266 )

• None

• None

• Peroxisome. Except in some PH1 patients where AGT is found in the mitochondrial matrix

ATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATC
CCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCC
GGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGATCATGGACGAGATC
AAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGC
TCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTC
CTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGA
GCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAG
GAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACC
GGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTACAAGTGCCTGCTC
CTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGCATC
GACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATC
TCCTTCAGTGACAAGGCCAAAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTC
TACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTAC
CATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCG
GAACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGG
CGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGCGCTCCGGCTTCCCACA
GTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATA
GACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGCTGCGG
ATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTG
AGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGA

1. Amoroso A, Pirulli D, Puzzer D, Ferri L, Crovella S, Ferrettini C, Marangella M, Mazzola G, Florian F: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. Hum Genet. 1999 May;104(5):441. [PubMed ]
2. Basmaison O, Rolland MO, Cochat P, Bozon D: Identification of 5 novel mutations in the AGXT gene. Hum Mutat. 2000 Jun;15(6):577. [PubMed ]
3. Minatogawa Y, Tone S, Allsop J, Purdue PE, Takada Y, Danpur CJ, Kido R: A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1. Hum Mol Genet. 1992 Nov;1(8):643-4. [PubMed ]
4. Purdue PE, Lumb MJ, Allsop J, Minatogawa Y, Danpure CJ: A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1. Genomics. 1992 May;13(1):215-8. [PubMed ]
5. Purdue PE, Takada Y, Danpure CJ: Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol. 1990 Dec;111(6 Pt 1):2341-51. [PubMed ]
6. Nishiyama K, Funai T, Katafuchi R, Hattori F, Onoyama K, Ichiyama A: Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. Biochem Biophys Res Commun. 1991 May 15;176(3):1093-9. [PubMed ]
7. Purdue PE, Lumb MJ, Fox M, Griffo G, Hamon-Benais C, Povey S, Danpure CJ: Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. Genomics. 1991 May;10(1):34-42. [PubMed ]
8. Nishiyama K, Berstein G, Oda T, Ichiyama A: Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase. Eur J Biochem. 1990 Nov 26;194(1):9-18. [PubMed ]
9. Takada Y, Kaneko N, Esumi H, Purdue PE, Danpure CJ: Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochem J. 1990 Jun 1;268(2):517-20. [PubMed ]
10. Danpure CJ, Purdue PE, Fryer P, Griffiths S, Allsop J, Lumb MJ, Guttridge KM, Jennings PR, Scheinman JI, Mauer SM, et al.: Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. Am J Hum Genet. 1993 Aug;53(2):417-32. [PubMed ]
11. 8507692 Danpure CJ: Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Biochimie. 1993;75(3-4):309-15.
12. 9192270 von Schnakenburg C, Rumsby G: Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. J Med Genet. 1997 Jun;34(6):489-92.

1. Ricoult C, Echeverria LO, Cliquet JB, Limami AM: Characterization of alanine aminotransferase (AlaAT) multigene family and hypoxic response in young seedlings of the model legume Medicago truncatula. J Exp Bot. 2006;57(12):3079-89. Epub 2006 Aug 9. [PubMed ]
2. Han Q, Robinson H, Gao YG, Vogelaar N, Wilson SR, Rizzi M, Li J: Crystal structures of Aedes aegypti alanine glyoxylate aminotransferase. J Biol Chem. 2006 Dec 1;281(48):37175-82. Epub 2006 Sep 21. [PubMed ]
3. Lu TC, Ko YZ, Huang HW, Hung YC, Lin YC, Peng WH: Analgesic and anti-inflammatory activities of aqueous extract from Glycine tomentella root in mice. J Ethnopharmacol. 2007 Aug 15;113(1):142-8. Epub 2007 May 31. [PubMed ]

1. EC 2.1.2.1
2. Glycine hydroxymethyltransferase
3. SHMT
4. Serine methylase

MTMPVNGAHKDADLWSSHDKMLAQPLKDSDVEVYNIIKKESNRQRVGLELIASENFASRA
VLEALGSCLNNKYSEGYPGQRYYGGTEFIDELETLCQKRALQAYKLDPQCWGVNVQPYSG
SPANFAVYTALVEPHGRIMGLDLPDGGHLTHGFMTDKKKISATSIFFESMPYKVNPDTGY
INYDQLEENARLFHPKLIIAGTSCYSRNLEYARLRKIADENGAYLMADMAHISGLVAAGV
VPSPFEHCHVVTTTTHKTLRGCRAGMIFYRKGVKSVDPKTGKEILYNLESLINSAVFPGL
QGGPHNHAIAGVAVALKQAMTLEFKVYQHQVVANCRALSEALTELGYKIVTGGSDNHLIL
VDLRSKGTDGGRAEKVLEACSIACNKNTCPGDRSALRPSGLRLGTPALTSRGLLEKDFQK
VAHFIHRGIELTLQIQSDTGVRATLKEFKERLAGDKYQAAVQALREEVESFASLFPLPGL
PDF

• 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine

• SHMT (PF00464 )

• None

• None

• Cytoplasm

ATGACGATGCCAGTCAACGGGGCCCACAAGGATGCTGACCTGTGGTCCTCACATGACAAG
ATGCTGGCACAACCCCTCAAAGACAGTGATGTTGAGGTTTACAACATCATTAAGAAGGAG
AGTAACCGGCAGAGGGTTGGATTGGAGCTGATTGCCTCGGAGAATTTCGCCAGCCGAGCA
GTTTTGGAGGCCCTAGGCTCTTGCTTAAATAACAAATACTCTGAGGGGTACCCGGGCCAG
AGATACTATGGCGGGACTGAGTTTATTGATGAACTGGAGACCCTCTGTCAGAAGCGAGCC
CTGCAGGCCTATAAGCTGGACCCACAGTGCTGGGGGGTCAACGTCCAGCCCTACTCAGGC
TCCCCTGCAAACTTTGCTGTGTACACTGCCCTGGTGGAACCCCATGGGCGCATCATGGGC
CTGGACCTTCCGGATGGGGGCCACCTGACCCATGGGTTCATGACAGACAAGAAGAAAATC
TCTGCCACGTCCATCTTCTTTGAATCTATGCCCTACAAGGTGAACCCAGATACTGGCTAC
ATCAACTATGACCAGCTGGAGGAGAACGCACGCCTCTTCCACCCGAAGCTGATCATCGCA
GGAACCAGCTGCTACTCCCGAAACCTGGAATATGCCCGGCTACGGAAGATTGCAGATGAG
AACGGGGCGTATCTCATGGCGGACATGGCTCACATCAGCGGGCTGGTGGCGGCTGGCGTG
GTGCCCTCCCCATTTGAACACTGCCATGTGGTGACCACCACCACTCACAAGACCCTGCGA
GGCTGCCGAGCTGGCATGATCTTCTACAGGAAAGGAGTGAAAAGTGTGGATCCCAAGACT
GGCAAAGAGATTCTGTACAACCTGGAGTCTCTTATCAATTCTGCTGTGTTCCCTGGCCTG
CAGGGAGGTCCCCACAACCACGCCATTGCTGGGGTTGCTGTGGCACTGAAGCAAGCTATG
ACTCTGGAATTTAAAGTTTATCAACACCAGGTGGTGGCCAACTGCAGGGCTCTGTCTGAG
GCCCTGACGGAGCTGGGCTACAAAATAGTCACAGGTGGTTCTGACAACCATTTGATCCTT
GTGGATCTCCGTTCCAAAGGCACAGATGGTGGAAGGGCTGAGAAGGTGCTAGAAGCCTGT
TCTATTGCCTGCAACAAGAACACCTGTCCAGGTGACAGAAGCGCTCTGCGGCCCAGTGGA
CTGCGGCTGGGGACCCCAGCACTGACGTCCCGTGGACTTTTGGAAAAAGACTTCCAAAAA
GTAGCCCACTTTATTCACAGAGGGATAGAGCTGACCCTGCAGATCCAGAGCGACACTGGT
GTCAGAGCCACCCTGAAAGAGTTCAAGGAGAGACTGGCAGGGGATAAGTACCAGGCGGCC
GTGCAGGCTCTCCGGGAGGAGGTTGAGAGCTTCGCCTCTCTCTTCCCTCTGCCTGGCCTG
CCTGACTTCTAA

1. Garrow TA, Brenner AA, Whitehead VM, Chen XN, Duncan RG, Korenberg JR, Shane B: Cloning of human cDNAs encoding mitochondrial and cytosolic serine hydroxymethyltransferases and chromosomal localization. J Biol Chem. 1993 Jun 5;268(16):11910-6. [PubMed ]
2. Chave KJ, Snell K, Sanders PG: Isolation and characterisation of human genomic sequences encoding cytosolic serine hydroxymethyltransferase. Biochem Soc Trans. 1997 Feb;25(1):53S. [PubMed ]
3. Renwick SB, Snell K, Baumann U: The crystal structure of human cytosolic serine hydroxymethyltransferase: a target for cancer chemotherapy. Structure. 1998 Sep 15;6(9):1105-16. [PubMed ]

1. Gagnon D, Foucher A, Girard I, Ouellette M: Stage specific gene expression and cellular localization of two isoforms of the serine hydroxymethyltransferase in the protozoan parasite Leishmania. Mol Biochem Parasitol. 2006 Nov;150(1):63-71. Epub 2006 Jul 13. [PubMed ]
2. Vatsyayan R, Roy U: Molecular cloning and biochemical characterization of Leishmania donovani serine hydroxymethyltransferase. Protein Expr Purif. 2007 Apr;52(2):433-40. Epub 2006 Oct 26. [PubMed ]
3. Nijhout HF, Reed MC, Lam SL, Shane B, Gregory JF 3rd, Ulrich CM: In silico experimentation with a model of hepatic mitochondrial folate metabolism. Theor Biol Med Model. 2006 Dec 6;3:40. [PubMed ]
4. Rajinikanth M, Harding SA, Tsai CJ: The glycine decarboxylase complex multienzyme family in Populus. J Exp Bot. 2007;58(7):1761-70. Epub 2007 Mar 12. [PubMed ]
5. Chang WN, Tsai JN, Chen BH, Huang HS, Fu TF: Serine hydroxymethyltransferase isoforms are differentially inhibited by leucovorin-Characterization and comparison of recombinant zebrafish serine hydroxymethyltransferases. Drug Metab Dispos. 2007 Jul 30;. [PubMed ]

1. AT
2. EC 2.1.4.1
3. Glycine amidinotransferase, mitochondrial precursor
4. L- arginine:glycine amidinotransferase
5. Transamidinase

MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPL
PKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHL
KKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEII
EAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAA
QGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPN
PMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSM
NVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQS
YLD

• L-arginine + glycine = L-ornithine + guanidinoacetate

• Amidinotransf (PF02274 )

• None

• None

• Mitochondrion. Cytoplasm. The mitochondrial form is found in the intermembrane space probably attach

ATGCTGCGGGTGCGGTGTCTGCGCGGCGGGAGCCGCGGCGCCGAGGCGGTGCACTACATC
GGATCTCGGCTTGGACGAACCTTGACAGGATGGGTGCAGCGAACTTTCCAGAGCACCCAG
GCAGCTACGGCTTCCTCCCGGAACTCCTGTGCAGCTGACGACAAAGCCACTGAGCCTCTG
CCCAAGGACTGCCCTGTCTCTTCTTACAACGAATGGGACCCCTTAGAGGAAGTGATAGTG
GGCAGAGCAGAAAACGCCTGTGTTCCACCGTTCACCATCGAGGTGAAGGCCAACACATAT
GAAAAGTACTGGCCATTTTACCAGAAGCAAGGAGGGCATTATTTTCCCAAAGATCATTTG
AAAAAGGCTGTTGCTGAAATTGAAGAAATGTGCAATATTTTAAAAACGGAAGGAGTGACA
GTAAGGAGGCCTGACCCCATTGACTGGTCATTGAAGTATAAAACTCCTGATTTTGAGTCT
ACGGGTTTATACAGTGCAATGCCTCGAGACATCCTGATAGTTGTGGGCAATGAGATTATC
GAGGCTCCCATGGCATGGCGTTCACGCTTCTTTGAGTACCGAGCGTACAGGTCAATTATC
AAAGACTACTTCCACCGTGGCGCCAAGTGGACAACAGCTCCTAAGCCCACAATGGCTGAT
GAGCTTTATAACCAGGATTATCCCATCCACTCTGTAGAAGACAGACACAAATTGGCTGCT
CAGGGAAAATTTGTGACAACTGAGTTTGAGCCATGCTTTGATGCTGCTGACTTCATTCGA
GCTGGAAGAGATATTTTTGCACAGAGAAGCCAGGTTACAAACTACCTAGGCATTGAATGG
ATGCGTAGGCATCTTGCTCCAGACTACAGAGTGCATATCATCTCCTTTAAAGATCCCAAT
CCCATGCATATTGATGCTACCTTCAACATCATTGGACCTGGTATTGTGCTTTCCAACCCT
GACCGACCATGTCACCAGATTGATCTTTTCAAGAAAGCAGGATGGACTATCATTACTCCT
CCAACACCAATCATCCCAGACGATCATCCACTCTGGATGTCATCCAAATGGCTTTCCATG
AATGTCTTAATGCTAGATGAAAAACGTGTTATGGTGGATGCCAATGAAGTTCCAATTCAA
AAGATGTTTGAAAAGCTGGGTATCACTACCATTAAAGTTAACATTCGTAATGCCAATTCC
CTGGGAGGAGGCTTCCATTGCTGGACCTGCGATGTCCGGCGCCGAGGCACCCTACAGTCC
TACTTGGACTGA

1. Humm A, Huber R, Mann K: The amino acid sequences of human and pig L-arginine:glycine amidinotransferase. FEBS Lett. 1994 Feb 14;339(1-2):101-7. [PubMed ]
2. Humm A, Fritsche E, Mann K, Gohl M, Huber R: Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue. Biochem J. 1997 Mar 15;322 ( Pt 3):771-6. [PubMed ]
3. Humm A, Fritsche E, Steinbacher S: Structure and reaction mechanism of L-arginine:glycine amidinotransferase. Biol Chem. 1997 Mar-Apr;378(3-4):193-7. [PubMed ]
4. Humm A, Fritsche E, Steinbacher S, Huber R: Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis. EMBO J. 1997 Jun 16;16(12):3373-85. [PubMed ]
5. Fritsche E, Humm A, Huber R: The ligand-induced structural changes of human L-Arginine:Glycine amidinotransferase. A mutational and crystallographic study. J Biol Chem. 1999 Jan 29;274(5):3026-32. [PubMed ]

1. Dutta U, Cohenford MA, Guha M, Dain JA: Non-enzymatic interactions of glyoxylate with lysine, arginine, and glucosamine: a study of advanced non-enzymatic glycation like compounds. Bioorg Chem. 2007 Feb;35(1):11-24. Epub 2006 Sep 12. [PubMed ]
2. Wang L, Zhang Y, Shao M, Zhang H: Spatiotemporal expression of the creatine metabolism related genes agat, gamt and ct1 during zebrafish embryogenesis. Int J Dev Biol. 2007;51(3):247-53. [PubMed ]

1. EC 2.1.1.20

VDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQRV
LDVACGTGVDSIMLVEEGFSVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMTL
DKDVPQSAEGGFDAVICLGNSFAHLPDCKGDQSEHRLALKNIASMVRAGGLLVIDHRNYD
HILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSKF
RLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD

• S-adenosyl-L-methionine + glycine = S-adenosyl-L-homocysteine + sarcosine

• Methyltransf_12 (PF08242 )

• None

• None

• Cytoplasm

ATGGTGGACAGCGTGTACCGGACCCGCTCCCTGGGGGTGGCGGCCGAAGGGCTCCCGGAC
CAGTACGCGGACGGGGAGGCGGCGCGCGTGTGGCAGCTGTATATCGGAGACACCCGCAGC
CGCACCGCCGAGTACAAGGCATGGCTGCTTGGGCTGCTGCGCCAGCACGGCTGCCAGCGG
GTGCTCGACGTAGCCTGTGGCACTGGGGTGGACTCCATTATGCTGGTGGAAGAGGGCTTC
AGTGTGACGAGTGTGGATGCCAGTGACAAGATGCTGAAGTATGCACTTAAGGAGCGCTGG
AACCGGCGGCACGAGCCCGCCTTCGACAAGTGGGTCATCGAAGAAGCCAACTGGATGACT
CTGGACAAAGATGTGCCCCAGTCAGCAGAGGGTGGCTTTGATGCTGTCATCTGCCTTGGA
AACAGTTTCGCTCACTTGCCAGACTGCAAAGGGGACCAGAGTGAGCACCGGCTGGCGCTG
AAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTAC
GACCACATCCTCAGTACAGGCTGTGCACCCCCAGGGAAGAACATCTACTATAAGAGTGAC
TTGACCAAGGACGTCACAACATCAGTGCTGATAGTGAACAACAAGGCCCACATGGTGACC
CTGGACTATACGGTGCAGGTGCCGGGGGCTGGCCAGGATGGCTCTCCTGGCTTGAGTAAG
TTCCGGCTCTCCTACTACCCACACTGTCTGGCATCCTTCACGGAGCTGCTCCAAGCAGCC
TTCGGAGGTAAGTGCCAGCACAGCGTCCTGGGCGACTTCAAGCCTTACAAGCCAGGCCAA
ACCTACATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGA

1. Chen YM, Chen LY, Wong FH, Lee CM, Chang TJ, Yang-Feng TL: Genomic structure, expression, and chromosomal localization of the human glycine N-methyltransferase gene. Genomics. 2000 May 15;66(1):43-7. [PubMed ]
2. Luka Z, Cerone R, Phillips JA 3rd, Mudd HS, Wagner C: Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. 2002 Jan;110(1):68-74. Epub 2001 Dec 7. [PubMed ]
3. Chen YM, Shiu JY, Tzeng SJ, Shih LS, Chen YJ, Lui WY, Chen PH: Characterization of glycine-N-methyltransferase-gene expression in human hepatocellular carcinoma. Int J Cancer. 1998 Mar 2;75(5):787-93. [PubMed ]

1. Velichkova P, Himo F: Methyl transfer in glycine N-methyltransferase. A theoretical study. J Phys Chem B. 2005 Apr 28;109(16):8216-9. [PubMed ]
2. Soriano A, Castillo R, Christov C, Andres J, Moliner V, Tunon I: Catalysis in glycine N-methyltransferase: testing the electrostatic stabilization and compression hypothesis. Biochemistry. 2006 Dec 19;45(50):14917-25. [PubMed ]
3. Luka Z, Pakhomova S, Loukachevitch LV, Egli M, Newcomer ME, Wagner C: 5-methyltetrahydrofolate is bound in intersubunit areas of rat liver folate-binding protein glycine N-methyltransferase. J Biol Chem. 2007 Feb 9;282(6):4069-75. Epub 2006 Dec 7. [PubMed ]

1. 5-aminolevulinate synthase, nonspecific, mitochondrial precursor
2. 5-aminolevulinic acid synthase
3. ALAS-H
4. Delta-ALA synthetase
5. Delta-aminolevulinate synthase
6. EC 2.3.1.37

MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKE
TPPASEKDKTAKAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGS
SVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQRPE
RVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSDSLI
TKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGTRNISGTSKFHVDLERELADL
HGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRHND
VSHLRELLQRSDPSVPKIVAFETVHSMDGAVCPLEELCDVAHEFGAITFVDEVHAVGLYG
ARGGGIGDRDGVMPKMDIISGTLGKAFGCVGGYIASTSSLIDTVRSYAAGFIFTTSLPPM
LLAGALESVRILKSAEGRVLRRQHQRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADAAKN
TEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTPHHTPQMMNYFLENLLVTWKQVGLE
LKPHSSAECNFCRRPLHFEVMSEREKSYFSGLSKLVSAQA

• succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO2

• Aminotran_1_2 (PF00155 )

• None

• None

• Mitochondrion
• mitochondrial matrix

ATGGAGAGTGTTGTTCGCCGCTGCCCATTCTTATCCCGAGTCCCCCAGGCCTTTCTGCAG
AAAGCAGGCAAATCTCTGTTGTTCTATGCCCAAAACTGCCCCAAGATGATGGAAGTTGGG
GCCAAGCCAGCCCCTCGGGCATTGTCCACTGCAGCAGTACACTACCAACAGATCAAAGAA
ACCCCTCCGGCCAGTGAGAAAGACAAAACTGCTAAGGCCAAGGTCCAACAGACTCCTGAT
GGATCCCAGCAGAGTCCAGATGGCACACAGCTTCCGTCTGGACACCCCTTGCCTGCCACA
AGCCAGGGCACTGCAAGCAAATGCCCTTTCCTGGCAGCACAGATGAATCAGAGAGGCAGC
AGTGTCTTCTGCAAAGCCAGTCTTGAGCTTCAGGAGGATGTGCAGGAAATGAATGCCGTG
AGGAAAGAGGTTGCTGAAACCTCAGCAGGCCCCAGTGTGGTTAGTGTGAAAACCGATGGA
GGGGATCCCAGTGGACTGCTGAAGAACTTCCAGGACATTATGCAAAAGCAAAGACCAGAA
AGAGTGTCTCATCTTCTTCAAGATAACTTGCCAAAATCTGTTTCCACTTTTCAGTATGAT
CGTTTCTTTGAGAAAAAAATTGATGAGAAAAAGAATGACCACACCTATCGAGTTTTTAAA
ACTGTGAACCGGCGAGCACACATCTTCCCCATGGCAGATGACTATTCAGACTCCCTCATC
ACCAAAAAGCAAGTGTCAGTCTGGTGCAGTAATGACTACCTAGGAATGAGTCGCCACCCA
CGGGTGTGTGGGGCAGTTATGGACACTTTGAAACAACATGGTGCTGGGGCAGGTGGTACT
AGAAATATTTCTGGAACTAGTAAATTCCATGTGGACTTAGAGCGGGAGCTGGCAGACCTC
CATGGGAAAGATGCCGCACTCTTGTTTTCCTCGTGCTTTGTGGCCAATGACTCAACCCTC
TTCACCCTGGCTAAGATGATGCCAGGCTGTGAGATTTACTCTGATTCTGGGAACCATGCC
TCCATGATCCAAGGGATTCGAAACAGCCGAGTGCCAAAGTACATCTTCCGCCACAATGAT
GTCAGCCACCTCAGAGAACTGCTGCAAAGATCTGACCCCTCAGTCCCCAAGATTGTGGCA
TTTGAAACTGTCCATTCAATGGATGGGGCGGTGTGCCCACTGGAAGAGCTGTGTGATGTG
GCCCATGAGTTTGGAGCAATCACCTTCGTGGATGAGGTCCACGCAGTGGGGCTTTATGGG
GCTCGAGGCGGAGGGATTGGGGATCGGGATGGAGTCATGCCAAAAATGGACATCATTTCT
GGAACACTTGGCAAAGCCTTTGGTTGTGTTGGAGGGTACATCGCCAGCACGAGTTCTCTG
ATTGACACCGTACGGTCCTATGCTGCTGGCTTCATCTTCACCACCTCTCTGCCACCCATG
CTGCTGGCTGGAGCCCTGGAGTCTGTGCGGATCCTGAAGAGCGCTGAGGGACGGGTGCTT
CGCCGCCAGCACCAGCGCAACGTCAAACTCATGAGACAGATGCTAATGGATGCCGGCCTC
CCTGTTGTCCACTGCCCCAGCCACATCATCCCTGTGCGGGTTGCAGATGCTGCTAAAAAC
ACAGAAGTCTGTGATGAACTAATGAGCAGACATAACATCTACGTGCAAGCAATCAATTAC
CCTACGGTGCCCCGGGGAGAAGAGCTCCTACGGATTGCCCCCACCCCTCACCACACACCC
CAGATGATGAACTACTTCCTTGAGAATCTGCTAGTCACATGGAAGCAAGTGGGGCTGGAA
CTGAAGCCTCATTCCTCAGCTGAGTGCAACTTCTGCAGGAGGCCACTGCATTTTGAAGTG
ATGAGTGAAAGAGAGAAGTCCTATTTCTCAGGCTTGAGCAAGTTGGTATCTGCTCAGGCC
TGA

1. Bishop DF: Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes. Nucleic Acids Res. 1990 Dec 11;18(23):7187-8. [PubMed ]
2. Bawden MJ, Borthwick IA, Healy HM, Morris CP, May BK, Elliott WH: Sequence of human 5-aminolevulinate synthase cDNA. Nucleic Acids Res. 1987 Oct 26;15(20):8563. [PubMed ]

1. Turbeville TD, Zhang J, Hunter GA, Ferreira GC: Histidine 282 in 5-aminolevulinate synthase affects substrate binding and catalysis. Biochemistry. 2007 May 22;46(20):5972-81. Epub 2007 May 1. [PubMed ]
2. He XM, Zhou J, Cheng Y, Fan J: [Purification and production of the extracellular 5-aminolevulinate from recombiniant Escherichia coli expressing yeast ALAS] Sheng Wu Gong Cheng Xue Bao. 2007 May;23(3):520-4. [PubMed ]

1. Glycine receptor subunit alpha-3 precursor

MAHVRHFRTLVSGFYFWEAALLLSLVATKETDSARSRSAPMSPSDFLDKLMGRTSGYDAR
IRPNFKGPPVNVTCNIFINSFGSIAETTMDYRVNIFLRQKWNDPRLAYSEYPDDSLDLDP
SMLDSIWKPDLFFANEKGANFHEVTTDNKLLRIFKNGNVLYSIRLTLTLSCPMDLKNFPM
DVQTCIMQLESFGYTMNDLIFEWQDEAPVQVAEGLTLPQFLLKEEKDLRYCTKHYNTGKF
TCIEVRFHLERQMGYYLIQMYIPSLLIVILSWVSFWINMDAAPARVALGITTVLTMTTQS
SGSRASLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRKNKTEA
FALEKFYRFSDMDDEVRESRFSFTAYGMGPCLQAKDGMTPKGPNHPVQVMPKSPDEMRKV
FIDRAKKIDTISRACFPLAFLIFNIFYWVIYKILRHEDIHQQQD

• Neur_chan_LBD (PF02931 )
• Neur_chan_memb (PF02932 )

• 1-33

• 253-279
• 286-303
• 315-341
• 434-451

• Membrane
• multi-pass membrane protein

ATGGCCCACGTGAGACACTTTCGGACATTAGTTTCGGGATTTTACTTCTGGGAAGCAGCA
CTGTTACTCAGTTTGGTTGCCACAAAGGAAACAGACAGTGCAAGATCTCGAAGTGCTCCA
ATGTCACCTTCTGATTTTCTGGATAAATTAATGGGCAGGACATCAGGATATGATGCAAGA
ATCAGACCCAATTTTAAAGGCCCTCCAGTTAATGTCACATGCAACATATTCATCAACAGT
TTCGGCTCTATCGCAGAGACGACCATGGATTACAGAGTGAATATCTTTCTTCGTCAGAAA
TGGAATGATCCCCGCCTCGCGTACAGTGAATATCCTGACGACTCTTTAGACCTCGACCCC
TCCATGTTGGACTCCATTTGGAAACCTGATTTGTTCTTTGCCAATGAAAAGGGTGCCAAC
TTTCATGAAGTCACTACAGACAACAAATTGCTAAGAATTTTCAAAAATGGAAATGTTCTT
TATTCAATAAGATTAACATTAACACTTTCCTGTCCAATGGATCTCAAGAATTTTCCCATG
GATGTACAAACATGTATAATGCAACTGGAAAGCTTTGGGTACACAATGAATGATCTCATT
TTTGAATGGCAAGATGAGGCACCCGTACAAGTGGCAGAAGGACTCACTTTGCCCCAGTTT
CTGTTGAAAGAAGAAAAAGATTTACGATACTGCACTAAACATTACAATACAGGAAAGTTT
ACGTGTATAGAAGTGCGATTCCATCTGGAGCGACAAATGGGATACTATCTGATCCAGATG
TACATTCCCAGTCTCCTGATTGTTATTCTATCCTGGGTTTCGTTCTGGATCAACATGGAT
GCAGCACCGGCCAGGGTAGCTCTGGGGATAACCACCGTGCTAACGATGACTACACAGAGT
TCAGGATCACGAGCTTCCTTGCCAAAAGTTTCATATGTCAAAGCTATTGATATTTGGATG
GCAGTATGCCTCCTTTTTGTGTTTTCAGCACTTCTGGAGTATGCAGCTGTAAATTTTGTA
TCAAGACAACACAAAGAACTTCTGAGATTTCGACGAAAGAGAAAGAATAAGACAGAAGCT
TTTGCACTGGAGAAGTTTTACCGTTTCTCAGATATGGATGATGAGGTAAGGGAAAGCCGA
TTCAGCTTCACAGCCTATGGAATGGGACCATGTCTACAAGCAAAGGATGGCATGACTCCA
AAGGGCCCCAACCACCCTGTCCAGGTAATGCCAAAAAGTCCTGATGAAATGAGGAAGGTC
TTTATCGACCGGGCCAAGAAGATTGATACCATCTCCCGAGCCTGCTTCCCATTAGCTTTT
TTGATTTTTAATATTTTCTACTGGGTTATCTATAAAATTCTTAGGCATGAGGATATTCAT
CATCAGCAGCAAGATTAA

1. Nikolic Z, Laube B, Weber RG, Lichter P, Kioschis P, Poustka A, Mulhardt C, Becker CM: The human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcripts. J Biol Chem. 1998 Jul 31;273(31):19708-14. [PubMed ]

1. Heinze L, Harvey RJ, Haverkamp S, Wassle H: Diversity of glycine receptors in the mouse retina: localization of the alpha4 subunit. J Comp Neurol. 2007 Feb 1;500(4):693-707. [PubMed ]
2. Majumdar S, Heinze L, Haverkamp S, Ivanova E, Wassle H: Glycine receptors of A-type ganglion cells of the mouse retina. Vis Neurosci. 2007 Jul-Aug;24(4):471-87. Epub 2007 May 29. [PubMed ]

1. Glycine receptor 48 kDa subunit
2. Glycine receptor strychnine-binding subunit
3. Glycine receptor subunit alpha-1 precursor

MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNF
KGPPVNVSCNIFINSFGSIAETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDS
IWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRITLTLACPMDLKNFPMDVQTC
IMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKHYNTGKFTCIEA
RFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRA
SLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKSPMLNLF
QEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKSPEEMRKLFIQRA
KKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ

• Neur_chan_LBD (PF02931 )
• Neur_chan_memb (PF02932 )

• 1-28

• 248-274
• 281-298
• 313-336
• 429-446

• Membrane
• multi-pass membrane protein

ATGTACAGCTTCAATACTCTTCGACTCTACCTTTCGGGAGCCATTGTATTCTTCAGCCTT
GCTGCTTCTAAGGAGGCTGAAGCTGCTCGCTCCGCAACCAAGCCTATGTCACCCTCGGAT
TTCCTGGATAAGCTAATGGGGAGAACCTCCGGATATGATGCCAGGATCAGGCCCAATTTT
AAAGGTCCCCCAGTGAACGTGAGCTGCAACATTTTCATCAACAGCTTTGGTTCCATTGCT
GAGACAACCATGGACTATAGGGTCAACATCTTCCTGCGGCAGCAATGGAACGACCCCCGC
CTGGCCTATAATGAATACCCTGACGACTCTCTGGACCTGGACCCATCCATGCTGGACTCC
ATCTGGAAACCTGACCTGTTCTTTGCCAACGAGAAGGGGGCCCACTTCCATGAGATCACC
ACAGACAACAAATTGCTAAGGATCTCCCGGAATGGGAATGTCCTCTACAGCATCAGAATC
ACCCTGACACTGGCCTGCCCCATGGACTTGAAGAATTTCCCCATGGATGTCCAGACATGT
ATCATGCAACTGGAAAGCTTTGGATATACGATGAATGACCTCATCTTTGAGTGGCAGGAA
CAGGGAGCCGTGCAGGTAGCAGATGGACTAACTCTGCCCCAGTTTATCTTGAAGGAAGAG
AAGGACTTGAGATACTGCACCAAGCACTACAACACAGGTAAATTCACCTGCATTGAGGCC
CGGTTCCACCTGGAGCGGCAGATGGGTTACTACCTGATTCAGATGTATATTCCCAGCCTG
CTCATTGTCATCCTCTCATGGATCTCCTTCTGGATCAACATGGATGCTGCACCTGCTCGT
GTGGGCCTAGGCATCACCACTGTGCTCACCATGACCACCCAGAGCTCCGGCTCTCGAGCA
TCTCTGCCCAAGGTGTCCTATGTGAAAGCCATTGACATTTGGATGGCAGTTTGCCTGCTC
TTTGTGTTCTCAGCCCTATTAGAATATGCTGCCGTTAACTTTGTGTCTCGGCAACATAAG
GAGCTGCTCCGATTCAGGAGGAAGCGGAGACATCACAAGGAGGATGAAGCTGGAGAAGGC
CGCTTTAACTTCTCTGCCTATGGGATGGGCCCAGCCTGTCTACAGGCCAAGGATGGCATC
TCAGTCAAGGGCGCCAACAACAGTAACACCACCAACCCCCCTCCTGCACCATCTAAGTCC
CCAGAGGAGATGCGAAAACTCTTCATCCAGAGGGCCAAGAAGATCGACAAAATATCCCGC
ATTGGCTTCCCCATGGCCTTCCTCATTTTCAACATGTTCTACTGGATCATCTACAAGATT
GTCCGTAGAGAGGACGTCCACAACCAGTGA

1. Vergouwe MN, Tijssen MA, Peters AC, Wielaard R, Frants RR: Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. Ann Neurol. 1999 Oct;46(4):634-8. [PubMed ]
2. Grenningloh G, Schmieden V, Schofield PR, Seeburg PH, Siddique T, Mohandas TK, Becker CM, Betz H: Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J. 1990 Mar;9(3):771-6. [PubMed ]
3. Shiang R, Ryan SG, Zhu YZ, Fielder TJ, Allen RJ, Fryer A, Yamashita S, O'Connell P, Wasmuth JJ: Mutational analysis of familial and sporadic hyperekplexia. Ann Neurol. 1995 Jul;38(1):85-91. [PubMed ]
4. Rees MI, Andrew M, Jawad S, Owen MJ: Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor. Hum Mol Genet. 1994 Dec;3(12):2175-9. [PubMed ]
5. Langosch D, Laube B, Rundstrom N, Schmieden V, Bormann J, Betz H: Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia. EMBO J. 1994 Sep 15;13(18):4223-8. [PubMed ]
6. Schorderet DF, Pescia G, Bernasconi A, Regli F: An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene. Hum Mol Genet. 1994 Jul;3(7):1201. [PubMed ]
7. Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ: Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet. 1993 Dec;5(4):351-8. [PubMed ]
8. Milani N, Dalpra L, del Prete A, Zanini R, Larizza L: A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. Am J Hum Genet. 1996 Feb;58(2):420-2. [PubMed ]
9. Elmslie FV, Hutchings SM, Spencer V, Curtis A, Covanis T, Gardiner RM, Rees M: Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. J Med Genet. 1996 May;33(5):435-6. [PubMed ]
10. Seri M, Bolino A, Galietta LJ, Lerone M, Silengo M, Romeo G: Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor. Hum Mutat. 1997;9(2):185-7. [PubMed ]
11. 9920650 Saul B, Kuner T, Sobetzko D, Brune W, Hanefeld F, Meinck HM, Becker CM: Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. J Neurosci. 1999 Feb 1;19(3):869-77.

1. Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H: Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. Biochem Biophys Res Commun. 2006 Sep 22;348(2):400-5. Epub 2006 Jul 26. [PubMed ]
2. Heinze L, Harvey RJ, Haverkamp S, Wassle H: Diversity of glycine receptors in the mouse retina: localization of the alpha4 subunit. J Comp Neurol. 2007 Feb 1;500(4):693-707. [PubMed ]

1. Glutamate receptor subunit epsilon-3 precursor
2. N-methyl D- aspartate receptor subtype 2C
3. NMDAR2C
4. NR2C

MGGALGPALLLTSLFGAWAGLGPGQGEQGMTVAVVFSSSGPPQAQFRARLTPQSFLDLPL
EIQPLTVGVNTTNPSSLLTQICGLLGAAHVHGIVFEDNVDTEAVAQILDFISSQTHVPIL
SISGGSAVVLTPKEPGSAFLQLGVSLEQQLQVLFKVLEEYDWSAFAVITSLHPGHALFLE
GVRAVADASHVSWRLLDVVTLELGPGGPRARTQRLLRQLDAPVFVAYCSREEAEVLFAEA
AQAGLVGPGHVWLVPNLALGSTDAPPATFPVGLISVVTESWRLSLRQKVRDGVAILALGA
HSYWRQHGTLPAPAGDCRVHPGPVSPAREAFYRHLLNVTWEGRDFSFSPGGYLVQPTMVV
IALNRHRLWEMVGRWEHGVLYMKYPVWPRYSASLQPVVDSRHLTVATLEERPFVIVESPD
PGTGGCVPNTVPCRRQSNHTFSSGDVAPYTKLCCKGFCIDILKKLARVVKFSYDLYLVTN
GKHGKRVRGVWNGMIGEVYYKRADMAIGSLTINEERSEIVDFSVPFVETGISVMVARSNG
TVSPSAFLEPYSPAVWVMMFVMCLTVVAITVFMFEYFSPVSYNQNLTRGKKSGGPAFTIG
KSVWLLWALVFNNSVPIENPRGTTSKIMVLVWAFFAVIFLASYTANLAAFMIQEQYIDTV
SGLSDKKFQRPQDQYPPFRFGTVPNGSTERNIRSNYRDMHTHMVKFNQRSVEDALTSLKM
GKLDAFIYDAAVLNYMAGKDEGCKLVTIGSGKVFATTGYGIAMQKDSHWKRAIDLALLQF
LGDGETQKLETVWLSGICQNEKNEVMSSKLDIDNMAGVFYMLLVAMGLALLVFAWEHLVY
WKLRHSVPNSSQLDFLLAFSRGIYSCFSGVQSLASPPRQASPDLTASSAQASVLKMLQAA
RDMVTTAGVSSSLDRATRTIENWGGGRRAPPPSPCPTPRSGPSPCLPTPDPPPEPSPTGW
GPPDGGRAALVRRAPQPPGRPPTPGPPLSDVSRVSRRPAWEARWPVRTGHCGRHLSASER
PLSPARCHYSSFPRADRSGRPFLPLFPELEDLPLLGKEQLARREALLHAAWARGSRPRHA
SLPSSVAEAFARPSSLPAGCTGPACARPDGHSACRRLAQAQSMCLPIYREACQEGEQAGA
PAWQHRQHVCLHAHAHLPFCWGAVCPHLPPCASHGSWLSGAWGPLGHRGRTLGLGTGYRD
SGGLDEISRVARGTQGFPGPCTWRRISSLESEV

• Lig_chan (PF00060 )
• ANF_receptor (PF01094 )

• 1-19

• 554-574
• 597-617
• 627-647
• 815-835

• Membrane
• multi-pass membrane protein

ATGGGTGGGGCCCTGGGGCCGGCCCTGTTGCTCACCTCGCTCTTCGGTGCCTGGGCAGGG
CTGGGTCCGGGGCAGGGCGAGCAGGGCATGACGGTGGCCGTGGTGTTTAGCAGCTCAGGG
CCGCCCCAGGCCCAGTTCCGTGCCCGCCTCACCCCCCAGAGCTTCCTGGACCTACCCCTG
GAGATCCAGCCGCTCACAGTTGGGGTCAACACCACCAACCCCAGCAGCCTCCTCACCCAG
ATCTGCGGCCTCCTGGGTGCTGCCCACGTCCACGGCATTGTCTTTGAGGACAACGTGGAC
ACCGAGGCGGTGGCCCAGATCCTTGACTTCATCTCCTCCCAGACCCATGTGCCCATCCTC
AGCATCAGCGGAGGCTCTGCTGTGGTCCTCACCCCCAAGGAGCCGGGCTCCGCCTTCCTG
CAGCTGGGCGTGTCCCTGGAGCAGCAGCTGCAGGTGCTGTTCAAGGTGCTGGAAGAGTAC
GACTGGAGCGCCTTCGCCGTCATCACCAGCCTGCACCCGGGCCACGCGCTCTTCCTGGAG
GGCGTGCGCGCCGTCGCCGACGCCAGCCACGTGAGTTGGCGGCTGCTGGACGTGGTCACG
CTGGAGCTGGGCCCGGGAGGGCCGCGCGCGCGCACGCAGCGCCTGCTGCGCCAGCTCGAC
GCGCCCGTGTTTGTGGCCTACTGCTCGCGCGAGGAGGCCGAGGTGCTCTTCGCCGAGGCG
GCGCAGGCCGGTCTGGTGGGGCCCGGCCACGTGTGGTTGGTGCCCAACCTGGCGCTGGGC
AGCACCGATGCGCCCCCCGCCACCTTCCCCGTGGGCCTCATCAGCGTCGTCACCGAGAGC
TGGCGCCTCAGCCTGCGCCAGAAGGTGCGCGACGGCGTGGCCATTCTGGCCCTGGGCGCC
CACAGCTACTGGCGCCAGCATGGAACCCTGCCAGCCCCGGCCGGGGACTGCCGTGTTCAC
CCTGGGCCCGTCAGCCCTGCCCGGGAGGCCTTCTACAGGCACCTACTGAATGTCACCTGG
GAGGGCCGAGACTTCTCCTTCAGCCCTGGTGGGTACCTGGTCCAGCCCACCATGGTGGTG
ATCGCCCTCAACCGGCACCGCCTCTGGGAGATGGTGGGGCGCTGGGAGCATGGCGTCCTA
TACATGAAGTACCCCGTGTGGCCTCGCTACAGTGCCTCTCTGCAGCCTGTGGTGGACAGT
CGGCACCTGACGGTGGCCACGCTGGAAGAGCGGCCCTTTGTCATCGTGGAGAGCCCTGAC
CCTGGCACAGGAGGCTGTGTCCCCAACACCGTGCCCTGCCGCAGGCAGAGCAACCACACC
TTCAGCAGCGGGGACGTGGCCCCCTACACCAAGCTCTGCTGTAAGGGATTCTGCATCGAC
ATCCTCAAGAAGCTGGCCAGAGTGGTCAAATTCTCCTACGACCTGTACCTGGTGACCAAC
GGCAAGCATGGCAAGCGGGTGCGCGGCGTATGGAACGGCATGATTGGGGAGGTGTACTAC
AAGCGGGCAGACATGGCCATCGGCTCCCTCACCATCAATGAGGAACGCTCCGAGATCGTA
GACTTCTCTGTACCCTTTGTGGAGACGGGCATCAGTGTGATGGTGGCTCGCAGCAATGGC
ACCGTCTCCCCCTCGGCCTTCTTGGAGCCATATAGCCCTGCAGTGTGGGTGATGATGTTT
GTCATGTGCCTCACTGTGGTGGCCATCACCGTCTTCATGTTCGAGTACTTCAGCCCTGTC
AGCTACAACCAGAACCTCACCAGAGGCAAGAAGTCCGGGGGCCCAGCTTTCACTATCGGC
AAGTCCGTGTGGCTGCTGTGGGCGCTGGTCTTCAACAACTCAGTGCCCATCGAGAACCCG
CGGGGCACCACCAGCAAGATCATGGTTCTGGTCTGGGCCTTCTTTGCTGTCATCTTCCTC
GCCAGCTACACGGCCAACCTGGCCGCCTTCATGATCCAAGAGCAATACATCGACACTGTG
TCGGGCCTCAGTGACAAGAAGTTTCAGCGGCCTCAAGATCAGTACCCACCTTTCCGCTTC
GGCACGGTGCCCAACGGCAGCACGGAGCGGAACATCCGCAGTAACTACCGTGACATGCAC
ACCCACATGGTCAAGTTCAACCAGCGCTCGGTGGAGGACGCGCTCACCAGCCTCAAGATG
GGGAAGCTGGATGCCTTCATCTATGATGCTGCTGTCCTCAACTACATGGCAGGCAAGGAC
GAGGGCTGCAAGCTGGTCACCATTGGGTCTGGCAAGGTCTTTGCTACCACTGGCTACGGC
ATCGCCATGCAGAAGGACTCCCACTGGAAGCGGGCCATAGACCTGGCGCTCTTGCAGTTC
CTGGGGGACGGAGAGACACAGAAACTGGAGACAGTGTGGCTCTCAGGGATCTGCCAGAAT
GAGAAGAACGAGGTGATGAGCAGCAAGCTGGACATCGACAACATGGCAGGCGTCTTCTAC
ATGCTGCTGGTGGCCATGGGGCTGGCCCTGCTGGTCTTCGCCTGGGAGCACCTGGTCTAC
TGGAAGCTGCGCCACTCGGTGCCCAACTCATCCCAGCTGGACTTCCTGCTGGCTTTCAGC
AGGGGCATCTACAGCTGCTTCAGCGGGGTGCAGAGCCTCGCCAGCCCACCGCGGCAGGCC
AGCCCGGACCTCACGGCCAGCTCGGCCCAGGCCAGCGTGCTCAAGATGCTGCAGGCAGCC
CGCGACATGGTGACCACGGCGGGCGTAAGCAGCTCCCTGGACCGCGCCACTCGCACCATC
GAGAATTGGGGTGGCGGCCGCCGTGCGCCCCCACCGTCCCCCTGCCCGACCCCGCGGTCT
GGCCCCAGCCCATGCCTGCCCACCCCCGACCCGCCCCCAGAGCCGAGCCCCACGGGCTGG
GGACCGCCAGACGGGGGTCGCGCGGCGCTTGTGCGCAGGGCTCCGCAGCCCCCGGGCCGC
CCCCCGACGCCGGGGCCGCCCCTGTCCGACGTCTCCCGAGTGTCGCGCCGCCCAGCCTGG
GAGGCGCGGTGGCCGGTGCGGACCGGGCACTGCGGGAGGCACCTCTCGGCCTCCGAGCGG
CCCCTGTCGCCCGCGCGCTGTCACTACAGCTCCTTTCCTCGAGCCGACCGATCCGGCCGC
CCCTTCCTCCCGCTCTTCCCGGAGCTGGAGGACCTGCCGCTGCTCGGTAAGGAGCAGCTG
GCCCGGCGGGAGGCCCTGCTGCACGCGGCCTGGGCCCGGGGCTCGCGCCCGCGTCACGCT
TCCCTGCCCAGCTCCGTGGCCGAGGCCTTCGCTCGGCCCAGCTCGCTGCCCGCTGGGTGC
ACCGGCCCCGCCTGCGCCCGCCCCGACGGCCACTCGGCCTGCAGGCGCTTGGCGCAGGCG
CAGTCGATGTGCTTGCCGATCTACCGGGAGGCCTGCCAGGAGGGCGAGCAGGCAGGGGCC
CCCGCCTGGCAGCACAGACAGCACGTCTGCCTGCACGCCCACGCCCACCTGCCATTTTGC
TGGGGGGCTGTCTGTCCTCACCTTCCACCCTGTGCCAGCCACGGCTCCTGGCTCTCCGGG
GCCTGGGGGCCTCTGGGGCACAGGGGCAGGACTCTGGGGCTGGGCACAGGCTACAGAGAC
AGTGGGGGACTGGACGAGATCAGCAGGGTAGCCCGTGGGACGCAAGGCTTCCCGGGACCC
TGCACCTGGAGACGGATCTCCAGTCTGGAGTCAGAAGTGTGA

1. Lin YJ, Bovetto S, Carver JM, Giordano T: Cloning of the cDNA for the human NMDA receptor NR2C subunit and its expression in the central nervous system and periphery. Brain Res Mol Brain Res. 1996 Dec 31;43(1-2):57-64. [PubMed ]

1. Malayev A, Gibbs TT, Farb DH: Inhibition of the NMDA response by pregnenolone sulphate reveals subtype selective modulation of NMDA receptors by sulphated steroids. Br J Pharmacol. 2002 Feb;135(4):901-9. [PubMed ]
2. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
3. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]
4. Widdowson PS, Gyte AJ, Upton R, Wyatt I: Failure of glycine site NMDA receptor antagonists to protect against L-2-chloropropionic acid-induced neurotoxicity highlights the uniqueness of cerebellar NMDA receptors. Brain Res. 1996 Nov 4;738(2):236-42. [PubMed ]
5. Al-Ghoul WM, Meeker RB, Greenwood RS: Differential expression of five N-methyl-D-aspartate receptor subunit mRNAs in vasopressin and oxytocin neuroendocrine cells. Brain Res Mol Brain Res. 1997 Mar;44(2):262-72. [PubMed ]

1. 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial precursor
2. AKB ligase
3. Aminoacetone synthetase
4. EC 2.3.1.29
5. Glycine acetyltransferase

MWPGNAWRAALFWVPRGRRAQSALAQLRGILEGELEGIRGAGTWKSERVITSRQGPHIRV
DGVSGGILNFCANNYLGLSSHPEVIQAGLQALEEFGAGLSSVRFICGTQSIHKNLEAKIA
RFHQREDAILYPSCYDANAGLFEALLTPEDAVLSDELNHASIIDGIRLCKAHKYRYRHLD
MADLEAKLQEAQKHRLRLVATDGAFSMDGDIAPLQEICCLASRYGALVFMDECHATGFLG
PTGRGTDELLGVMDQVTIINSTLGKALGGASGGYTTGPGPLVSLLRQRARPYLFSNSLPP
AVVGCASKALDLLMGSNTIVQSMAAKTQRFRSKMEAAGFTISGASHPICPVMLGDARLAS
RMADDMLKRGIFVIGFSYPVVPKGKARIRVQISAVHSEEDIDRCVEAFVEVGRLHGALP

• acetyl-CoA + glycine = CoA + 2-amino-3-oxobutanoate

• Aminotran_1_2 (PF00155 )

• None

• None

• Mitochondrion

ATGTGGCCTGGGAACGCCTGGCGCGCCGCACTCTTCTGGGTGCCCCGCGGCCGCCGCGCA
CAGTCAGCGCTGGCCCAGCTGCGTGGCATTCTGGAGGGGGAGCTGGAAGGCATCCGCGGA
GCTGGCACTTGGAAGAGTGAGCGGGTCATCACGTCCCGTCAGGGGCCGCACATCCGCGTG
GACGGCGTCTCCGGAGGAATCCTCAACTTCTGTGCCAACAACTACCTGGGCCTGAGCAGC
CACCCTGAGGTGATTCAGGCAGGTCTGCAGGCTCTGGAGGAGTTTGGAGCTGGCCTTAGC
TCGGTCCGCTTCATCTGTGGAACCCAGAGCATCCACAAGAATCTAGAAGCAAAAATAGCC
CGCTTCCACCAGCGGGAGGATGCCATCCTCTATCCCAGCTGTTATGACGCCAACGCCGGC
CTCTTTGAGGCCCTGCTGACCCCAGAGGACGCAGTCCTGTCGGACGAGCTGAACCATGCC
TCCATCATCGACGGCATCCGGCTGTGCAAGGCCCACAAGTACCGCTATCGCCACCTGGAC
ATGGCCGACCTAGAAGCCAAGCTGCAGGAGGCCCAGAAGCATCGGCTGCGCCTGGTGGCC
ACCGATGGGGCCTTTTCCATGGATGGCGACATCGCACCCCTGCAGGAGATCTGCTGCCTC
GCCTCTAGATATGGTGCCCTGGTCTTCATGGATGAATGCCATGCCACTGGTTTCCTGGGG
CCCACAGGACGGGGCACAGATGAGCTGCTGGGTGTGATGGACCAGGTCACCATCATCAAC
TCCACCCTGGGGAAGGCCCTGGGTGGAGCATCAGGGGGCTACACGACAGGGCCTGGGCCC
CTGGTGTCACTGCTGCGGCAGCGCGCCCGGCCATACCTCTTCTCCAACAGTCTGCCACCT
GCTGTCGTTGGCTGCGCCTCCAAGGCCCTAGATCTGCTGATGGGGAGTAACACCATTGTC
CAGTCTATGGCTGCCAAGACCCAGAGGTTCCGTAGTAAGATGGAAGCTGCTGGCTTCACT
ATCTCAGGAGCCAGTCACCCCATCTGCCCTGTGATGCTGGGTGATGCCCGGCTGGCCTCT
CGCATGGCGGATGACATGCTGAAGAGAGGCATCTTTGTCATCGGGTTCAGCTACCCCGTG
GTCCCCAAGGGCAAGGCCCGGATCCGGGTACAGATCTCAGCAGTGCATAGCGAGGAAGAC
ATTGACCGCTGCGTGGAGGCCTTCGTGGAAGTGGGGCGACTGCACGGGGCACTGCCCTGA

1. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al.: The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. [PubMed ]
2. Edgar AJ, Polak JM: Molecular cloning of the human and murine 2-amino-3-ketobutyrate coenzyme A ligase cDNAs. Eur J Biochem. 2000 Mar;267(6):1805-12. [PubMed ]

1. Bashir Q, Rashid N, Akhtar M: Mechanism and substrate stereochemistry of 2-amino-3-oxobutyrate CoA ligase: implications for 5-aminolevulinate synthase and related enzymes. Chem Commun (Camb). 2006 Dec 28;(48):5065-7. Epub 2006 Oct 13. [PubMed ]

1. Glutamate receptor subunit 3B precursor
2. N-methyl-D-aspartate receptor subtype NR3B
3. NMDAR3B
4. NR3B

MEFVRALWLGLALALGPGSAGGHPQPCGVLARLGGSVRLGALLPRAPLARARARAALARA
ALAPRLPHNLSLELVVAAPPARDPASLTRGLCQALVPPGVAALLAFPEARPELLQLHFLA
AATETPVLSLLRREARAPLGAPNPFHLQLHWASPLETLLDVLVAVLQAHAWEDVGLALCR
TQDPGGLVALWTSRAGRPPQLVLDLSRRDTGDAGLRARLAPMAAPVGGEAPVPAAVLLGC
DIARARRVLEAVPPGPHWLLGTPLPPKALPTAGLPPGLLALGEVARPPLEAAIHDIVQLV
ARALGSAAQVQPKRALLPAPVNCGDLQPAGPESPGRFLARFLANTSFQGRTGPVWVTGSS
QVHMSRHFKVWSLRRDPRGAPAWATVGSWRDGQLDLEPGGASARPPPPQGAQVWPKLRVV
TLLEHPFVFARDPDEDGQCPAGQLCLDPGTNDSATLDALFAALANGSAPRALRKCCYGYC
IDLLERLAEDTPFDFELYLVGDGKYGALRDGRWTGLVGDLLAGRAHMAVTSFSINSARSQ
VVDFTSPFFSTSLGIMVRARDTASPIGAFMWPLHWSTWLGVFAALHLTALFLTVYEWRSP
YGLTPRGRNRSTVFSYSSALNLCYAILFRRTVSSKTPKCPTGRLLMNLWAIFCLLVLSSY
TANLAAVMVGDKTFEELSGIHDPKLHHPAQGFRFGTVWESSAEAYIKKSFPDMHAHMRRH
SAPTTPRGVAMLTSDPPKLNAFIMDKSLLDYEVSIDADCKLLTVGKPFAIEGYGIGLPQN
SPLTSNLSEFISRYKSSGFIDLLHDKWYKMVPCGKRVFAVTETLQMSIYHFAGLFVLLCL
GLGSALLSSLGEHAFFRLALPRIRKGSRLQYWLHTSQKIHRALNTEPPEGSKEETAEAEP
SGPEVEQQQQQQDQPTAPEGWKRARRAVDKERRVRFLLEPAVVVAPEADAEAEAAPREGP
VWLCSYGRPPAARPTGAPQPGELQELERRIEVARERLRQALVRRGQLLAQLGDSARHRPR
RLLQARAAPAEAPPHSGRPGSQE

• Lig_chan (PF00060 )

• 1-22

• 565-585
• 649-669
• 831-851

• Cell membrane
• multi-pass membrane protein. Requires the presence of GRIN1 to be targeted at the pla

ATGGAGTTTGTGCGGGCGCTGTGGCTGGGCCTGGCGCTGGCGCTGGGGCCGGGGTCCGCG
GGGGGCCACCCTCAGCCGTGCGGCGTCCTGGCGCGCCTCGGGGGCTCCGTGCGCCTGGGC
GCCCTCCTGCCCCGCGCGCCTCTCGCCCGCGCCCGCGCCCGCGCCGCCCTGGCCCGGGCC
GCCCTGGCGCCGCGGCTGCCGCACAACCTGAGCTTGGAGCTGGTGGTCGCCGCGCCCCCC
GCCCGCGACCCCGCCTCGCTGACCCGCGGCCTGTGCCAGGCGCTGGTGCCTCCGGGCGTG
GCGGCCCTGCTCGCCTTTCCCGAGGCTCGGCCCGAGCTGCTGCAGCTGCACTTCCTGGCG
GCGGCCACCGAGACCCCCGTGCTCAGCCTGCTGCGGCGGGAGGCGCGCGCGCCCCTCGGA
GCCCCGAACCCATTCCACCTGCAGCTGCACTGGGCCAGCCCCCTGGAGACGCTGCTGGAT
GTGCTGGTGGCGGTGCTGCAGGCGCACGCCTGGGAAGACGTCGGCCTGGCCCTGTGCCGC
ACTCAGGACCCCGGCGGCCTGGTGGCCCTCTGGACAAGCCGGGCTGGCCGGCCCCCACAG
CTGGTCCTGGACCTAAGCCGGCGGGACACGGGAGATGCAGGACTGCGGGCACGCCTGGCC
CCGATGGCGGCGCCAGTGGGGGGTGAAGCACCGGTACCCGCGGCGGTCCTCCTCGGCTGT
GACATCGCCCGTGCCCGTCGGGTGCTGGAGGCCGTACCTCCCGGCCCCCACTGGCTGTTG
GGGACACCACTGCCGCCCAAGGCCCTGCCCACCGCGGGGCTGCCACCAGGGCTGCTGGCG
CTGGGCGAGGTGGCACGACCCCCGCTGGAGGCCGCCATCCATGACATTGTGCAACTGGTG
GCCCGGGCGCTGGGCAGTGCGGCCCAGGTGCAGCCGAAGCGAGCCCTCCTCCCCGCCCCG
GTCAACTGCGGGGACCTGCAGCCGGCCGGGCCCGAGTCCCCGGGGCGCTTCTTGGCACGG
TTCCTGGCCAACACGTCCTTCCAGGGCCGCACGGGCCCCGTGTGGGTGACAGGCAGCTCC
CAGGTACACATGTCTCGGCACTTTAAGGTGTGGAGCCTTCGCCGGGACCCACGGGGCGCC
CCGGCCTGGGCCACGGTGGGCAGCTGGCGGGACGGCCAGCTGGACTTGGAACCGGGAGGT
GCCTCTGCACGGCCCCCGCCCCCACAGGGTGCCCAGGTCTGGCCCAAGCTGCGTGTGGTA
ACGCTGTTGGAACACCCATTTGTGTTTGCCCGTGATCCAGACGAAGACGGGCAGTGCCCA
GCGGGGCAGCTGTGCCTGGACCCTGGCACCAACGACTCGGCCACCCTGGACGCACTGTTC
GCCGCGCTGGCCAACGGCTCAGCGCCCCGTGCCCTGCGCAAGTGCTGCTACGGCTACTGC
ATTGACCTGCTGGAGCGGCTGGCGGAGGACACGCCCTTCGACTTCGAGCTGTACCTCGTG
GGTGACGGCAAGTACGGCGCCCTGCGGGACGGCCGCTGGACCGGCCTGGTCGGGGACCTG
CTGGCCGGCCGGGCCCACATGGCGGTCACCAGCTTCAGTATCAACTCCGCCCGCTCACAG
GTGGTGGACTTCACCAGCCCCTTCTTCTCCACCAGCCTGGGCATCATGGTGCGGGCACGG
GACACGGCCTCACCCATCGGTGCCTTTATGTGGCCCCTGCACTGGTCCACGTGGCTGGGC
GTCTTTGCGGCCCTGCACCTCACCGCGCTCTTCCTCACCGTGTACGAGTGGCGTAGCCCC
TACGGCCTCACGCCACGTGGCCGCAACCGCAGCACCGTCTTCTCCTACTCCTCAGCCCTC
AACCTGTGCTACGCCATCCTCTTCAGACGCACCGTGTCCAGCAAGACGCCCAAGTGCCCC
ACGGGCCGCCTGCTCATGAACCTCTGGGCCATCTTCTGCCTGCTGGTGCTGTCCAGCTAC
ACGGCCAACCTGGCTGCCGTCATGGTCGGGGACAAGACCTTCGAGGAGCTGTCGGGGATC
CACGACCCCAAGCTGCACCACCCGGCGCAGGGCTTCCGCTTCGGCACCGTGTGGGAGAGC
AGCGCCGAGGCGTACATCAAGAAGAGCTTCCCCGACATGCACGCACACATGCGGCGCCAC
AGCGCGCCCACCACGCCCCGCGGCGTCGCCATGCTCACGAGCGACCCCCCCAAGCTCAAC
GCCTTCATCATGGACAAGTCGCTCCTGGACTACGAGGTCTCCATCGACGCCGACTGCAAA
CTGCTGACCGTGGGAAAGCCCTTCGCCATTGAGGGCTATGGGATCGGACTGCCCCAGAAC
TCGCCGCTCACCTCCAACCTGTCCGAGTTCATCAGCCGCTACAAGTCCTCCGGCTTCATC
GACCTGCTCCACGACAAGTGGTACAAGATGGTGCCTTGCGGCAAGCGGGTCTTTGCGGTT
ACAGAGACCCTGCAGATGAGCATCTACCACTTCGCGGGCCTCTTCGTGTTGCTGTGCCTG
GGCCTGGGCAGCGCTCTGCTCAGCTCGCTGGGCGAGCACGCCTTCTTCCGCCTGGCGCTG
CCGCGCATCCGCAAGGGGAGCAGGCTGCAGTACTGGCTGCACACCAGCCAGAAAATCCAC
CGCGCCCTCAACACGGAGCCACCAGAGGGGTCGAAGGAGGAGACGGCAGAGGCGGAGCCC
AGCGGCCCCGAGGTGGAGCAGCAGCAGCAGCAGCAGGACCAGCCAACGGCTCCGGAGGGC
TGGAAACGGGCGCGCCGGGCCGTGGACAAGGAGCGCCGCGTGCGCTTCCTGCTGGAGCCC
GCCGTGGTTGTGGCACCCGAAGCGGACGCGGAGGCGGAGGCTGCGCCGCGAGAGGGCCCC
GTCTGGCTGTGCTCCTACGGCCGCCCGCCCGCCGCAAGGCCCACGGGGGCCCCCCAGCCC
GGGGAGCTGCAGGAGCTGGAGCGCCGCATCGAAGTCGCGCGTGAGCGGCTCCGCCAGGCC
CTGGTGCGGCGCGGCCAGCTCCTGGCACAGCTCGGGGACAGCGCACGTCACCGGCCTCGG
CGCTTGCTTCAGGCCAGAGCGGCCCCCGCGGAGGCCCCACCACACTCTGGCCGACCGGGG
AGCCAGGAATGA

1. Nishi M, Hinds H, Lu HP, Kawata M, Hayashi Y: Motoneuron-specific expression of NR3B, a novel NMDA-type glutamate receptor subunit that works in a dominant-negative manner. J Neurosci. 2001 Dec 1;21(23):RC185. [PubMed ]
2. Andersson O, Stenqvist A, Attersand A, von Euler G: Nucleotide sequence, genomic organization, and chromosomal localization of genes encoding the human NMDA receptor subunits NR3A and NR3B. Genomics. 2001 Dec;78(3):178-84. [PubMed ]

1. Smothers CT, Woodward JJ: Pharmacological characterization of glycine-activated currents in HEK 293 cells expressing N-methyl-D-aspartate NR1 and NR3 subunits. J Pharmacol Exp Ther. 2007 Aug;322(2):739-48. Epub 2007 May 14. [PubMed ]

1. Proton/amino acid transporter 1
2. Solute carrier family 36 member 1

MSTQRLRNEDYHDYSSTDVSPEESPSEGLNNLSSPGSYQRFGQSNSTTWFQTLIHLLKGN
IGTGLLGLPLAVKNAGIVMGPISLLIIGIVAVHCMGILVKCAHHFCRRLNKSFVDYGDTV
MYGLESSPCSWLRNHAHWGRRVVDFFLIVTQLGFCCVYFVFLADNFKQVIEAANGTTNNC
HNNETVILTPTMDSRLYMLSFLPFLVLLVFIRNLRALSIFSLLANITMLVSLVMIYQFIV
QRIPDPSHLPLVAPWKTYPLFFGTAIFSFEGIGMVLPLENKMKDPRKFPLILYLGMVIVT
ILYISLGCLGYLQFGANIQGSITLNLPNCWLYQSVKLLYSIGIFFTYALQFYVPAEIIIP
FFVSRAPEHCELVVDLFVRTVLVCLTCILAILIPRLDLVISLVGSVSSSALALIIPPLLE
VTTFYSEGMSPLTIFKDALISILGFVGFVVGTYEALYELIQPSNAPIFINSTCAFI

• Aa_trans (PF01490 )

• None

• 52-72
• 79-99
• 142-162
• 191-211
• 216-236
• 258-278
• 290-310
• 343-363
• 373-393
• 398-418
• 440-460

• Cell membrane
• lysosomal membrane
• multi-pass membrane protei
• multi-pass membrane protein. Lysosome

ATGTCCACGCAGAGACTTCGGAATGAAGACTACCACGACTACAGCTCCACGGACGTGAGC
CCTGAGGAGAGCCCGTCGGAAGGCCTCAACAACCTCTCCTCCCCGGGCTCCTACCAGCGC
TTTGGTCAAAGCAATAGCACAACATGGTTCCAGACCTTGATCCACCTGTTAAAAGGCAAC
ATTGGCACAGGACTCCTGGGACTCCCTCTGGCGGTGAAAAATGCAGGCATCGTGATGGGT
CCCATCAGCCTGCTGATCATAGGCATCGTGGCCGTGCACTGCATGGGTATCCTGGTGAAA
TGTGCTCACCACTTCTGCCGCAGGCTGAATAAATCCTTTGTGGATTATGGTGATACTGTG
ATGTATGGACTAGAATCCAGCCCCTGCTCCTGGCTCCGGAACCACGCACACTGGGGAAGA
CGTGTTGTGGACTTCTTCCTGATTGTCACCCAGCTGGGATTCTGCTGTGTCTATTTTGTG
TTTCTGGCTGACAACTTTAAACAGGTGATAGAAGCGGCCAATGGGACCACCAATAACTGC
CACAACAATGAGACGGTGATTCTGACGCCTACCATGGACTCGCGACTCTACATGCTCTCC
TTCCTGCCCTTCCTGGTGCTGCTGGTTTTCATCAGGAACCTCCGAGCCCTGTCCATCTTC
TCCCTGTTGGCCAACATCACCATGCTGGTCAGCTTGGTCATGATCTACCAGTTCATTGTT
CAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTC
TTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTTCTGCCCCTGGAAAAC
AAAATGAAGGATCCTCGGAAGTTCCCACTCATCCTGTACCTGGGCATGGTCATCGTCACC
ATCCTCTACATCAGCCTGGGGTGTCTGGGGTACCTGCAATTTGGAGCTAATATCCAAGGC
AGCATAACCCTCAACCTGCCCAACTGCTGGTTGTACCAGTCAGTTAAGCTGCTGTACTCC
ATCGGGATCTTTTTCACCTACGCACTCCAGTTCTACGTCCCGGCTGAGATCATCATCCCC
TTCTTTGTGTCCCGAGCGCCCGAGCACTGTGAGTTAGTGGTGGACCTGTTTGTGCGCACA
GTGCTGGTCTGCCTGACATGCATCTTGGCCATCCTCATCCTCCGCCTGGACCTGGTCATC
TCCCTGGTGGGCTCCGTGAGCAGCAGCGCCCTGGCCCTCATCATCCCACCGCTCCTGGAG
GTCACCACCTTCTACTCAGAGGGCATGAGCCCCCTCACCATCTTTAAGGACGCCCTGATC
AGCATCCTGGGCTTCGGGGGCTTTGGGGGGGGGACCTATGAGGCTCTCTATGAGCTGATC
CAGCCAAGCAATGCTCCCATCTTCATCAATTCCACCTGTGCCTTCATATAG

1. Boll M, Foltz M, Rubio-Aliaga I, Daniel H: A cluster of proton/amino acid transporter genes in the human and mouse genomes. Genomics. 2003 Jul;82(1):47-56. [PubMed ]

1. Metzner L, Kalbitz J, Brandsch M: Transport of pharmacologically active proline derivatives by the human proton-coupled amino acid transporter hPAT1. J Pharmacol Exp Ther. 2004 Apr;309(1):28-35. Epub 2004 Jan 12. [PubMed ]
2. Bermingham JR Jr, Pennington J: Organization and expression of the SLC36 cluster of amino acid transporter genes. Mamm Genome. 2004 Feb;15(2):114-25. [PubMed ]
3. Broer A, Cavanaugh JA, Rasko JE, Broer S: The molecular basis of neutral aminoacidurias. Pflugers Arch. 2006 Jan;451(4):511-7. Epub 2005 Jul 29. [PubMed ]
4. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
5. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]

1. EC 1.4.4.2
2. Glycine cleavage system P- protein
3. Glycine decarboxylase
4. Glycine dehydrogenase , mitochondrial precursor

MQSCARAWGLRLGRGVGGGRRLAGGSGPCWAPRSRDSSSGGGDSAAAGASRLLERLLPRH
DDFARRHIGPGDKDQREMLQTLGLASIDELIEKTVPANIRLKRPLKMEDPVCENEILATL
HAISSKNQIWRSYIGMGYYNCSVPQTILRNLLENSGWITQYTPYQPEVSQGRLESLLNYQ
TMVCDITGLDMANASLLDEGTAAAEALQLCYRHNKRRKFLVDPRCHPQTIAVVQTRAKYT
GVLTELKLPCEMDFSGKDVSGVLFQYPDTEGKVEDFTELVERAHQSGSLACCATDLLALC
ILRPPGEFGVDIALGSSQRFGVPLGYGGPHAAFFAVRESLVRMMPGRMVGVTRDATGKEV
YRLALQTREQHIRRDKATSNICTAQALLANMAAMFAIYHGSHGLEHIARRVHNATLILSE
GLKRAGHQLQHDLFFDTLKIHCGCSVKEVLGRAAQRQINFRLFEDGTLGISLDETVNEKD
LDDLLWIFGCESSAELVAESMGEECRGIPGSVFKRTSPFLTHQVFNSYHSETNIVRYMKK
LENKDISLVHSMIPLGSCTMKLNSSSELAPITWKEFANIHPFVPLDQAQGYQQLFRELEK
DLCELTGHDQVCFQPNSGAQGEYAGLATIRAYLNQKGEGHRTVCLIPKSAHGTNPASAHM
AGMKIQPVEVDKYGNIDAVHLKAMVDKHKENLAAIMITYPSTNGVFEENISDVCDLIHQH
GGQVYLDGANMNAQVGICRPGDFGSDVSHLNLHKTFCIPHGGGGPGMGPIGVKKHLAPFL
PNHPVISLKRNEDACPVGTVSAAPWGSSSILPISWAYIKMMGGKGLKQATETAILNANYM
AKRLETHYRILFRGARGYVGHEFILDTRPFKKSANIEAVDVAKRLQDYGFHAPTMSWPVA
GTLMVEPTESEDKAELDRFCDAMISIRQEIADIEEGRIDPRVNPLKMSPHSLTCVTSSHW
DRPYSREVAAFPLPFVKPENKFWPTIARIDDIYGDQHLVCTCPPMEVYESPFSEQKRASS

• glycine + H-protein-lipoyllysine = H-protein-S-aminomethyldihydrolipoyllysine + CO2

• GDC-P (PF02347 )

• None

• None

• Mitochondrion

ATGCAGTCCTGTGCCAGGGCGTGGGGGCTGCGCCTGGGCCGCGGGGTCGGGGGCGGCCGC
CGCCTGGCTGGGGGATCGGGGCCGTGCTGGGCGCCGCGGAGCCGGGACAGCAGCAGTGGC
GGCGGGGACAGCGCCGCGGCTGGGGCCTCGCGCCTCCTGGAGCGCCTTCTGCCCAGACAC
GACGACTTCGCTCGGAGGCACATCGGCCCTGGGGACAAAGACCAGAGAGAGATGCTGCAG
ACCTTGGGGCTGGCGAGCATTGATGAATTGATCGAGAAGACGGTCCCTGCCAACATCCGT
TTGAAAAGACCCTTGAAAATGGAAGACCCTGTTTGTGAAAATGAAATCCTTGCAACTCTG
CATGCCATTTCAAGCAAAAACCAGATCTGGAGATCGTATATTGGCATGGGCTATTATAAC
TGCTCAGTGCCACAGACGATTTTGCGGAACTTACTGGAGAACTCAGGATGGATCACCCAG
TATACTCCATACCAGCCTGAGGTGTCTCAGGGGAGGCTGGAGAGTTTACTCAACTACCAG
ACCATGGTGTGTGACATCACAGGCCTGGACATGGCCAATGCATCCCTGCTGGATGAGGGG
ACTGCAGCCGCAGAGGCACTGCAGCTGTGCTACAGACACAACAAGAGGAGGAAATTTCTC
GTTGATCCCCGTTGCCACCCACAGACAATAGCTGTTGTCCAGACTCGAGCCAAATATACT
GGAGTCCTCACTGAGCTGAAGTTACCCTGTGAAATGGACTTCAGTGGAAAAGATGTCAGT
GGAGTGTTGTTCCAGTACCCAGACACGGAGGGGAAGGTGGAAGACTTTACGGAACTCGTG
GAGAGAGCTCATCAGAGTGGGAGCCTGGCCTGCTGTGCTACTGACCTTTTAGCTTTGTGC
ATCTTGAGGCCACCTGGAGAATTTGGGGTAGACATCGCCCTGGGCAGCTCCCAGAGATTT
GGAGTGCCACTGGGCTATGGGGGACCCCATGCAGCATTTTTTGCTGTCCGAGAAAGCTTG
GTGAGAATGATGCCTGGAAGAATGGTGGGGGTAACAAGAGATGCCACTGGGAAAGAAGTG
TATCGTCTTGCTCTTCAAACCAGGGAGCAACACATTCGGAGAGACAAGGCTACCAGCAAC
ATCTGTACAGCTCAGGCCCTCTTGGCGAATATGGCTGCCATGTTTGCAATCTACCATGGT
TCCCATGGGCTGGAGCATATTGCTAGGAGGGTACATAATGCCACTTTGATTTTGTCAGAA
GGTCTCAAGCGAGCAGGGCATCAACTCCAGCATGACCTGTTCTTTGATACCTTGAAGATT
CATTGTGGCTGCTCAGTGAAGGAGGTCTTGGGCAGGGCGGCTCAGCGGCAGATCAATTTT
CGGCTTTTTGAGGATGGCACACTTGGTATTTCTCTTGATGAAACAGTCAATGAAAAAGAT
CTGGACGATTTGTTGTGGATCTTTGGTTGTGAGTCATCTGCAGAACTGGTTGCTGAAAGC
ATGGGAGAGGAGTGCAGAGGTATTCCAGGGTCTGTGTTCAAGAGGACCAGCCCGTTCCTC
ACCCATCAAGTGTTCAACAGCTACCACTCTGAAACAAACATTGTCCGGTACATGAAGAAA
CTGGAAAATAAAGACATTTCCCTTGTTCACAGCATGATTCCACTGGGATCCTGCACCATG
AAACTGAACAGTTCGTCTGAACTCGCACCTATCACATGGAAAGAATTTGCAAACATCCAC
CCCTTTGTGCCTCTGGATCAAGCTCAAGGATATCAGCAGCTTTTCCGAGAGCTTGAGAAG
GATTTGTGTGAACTCACAGGTCATGACCAGGTCTGTTTCCAGCCAAACAGCGGAGCCCAG
GGAGAATATGCTGGACTGGCCACTATCCGAGCCTACTTAAACCAGAAAGGAGAGGGGCAC
AGAACGGTTTGCCTCATTCCGAAATCAGCACATGGGACCAACCCAGCAAGTGCCCACATG
GCAGGCATGAAGATTCAGCCTGTGGAGGTGGATAAATATGGGAATATCGATGCAGTTCAC
CTCAAGGCCATGGTGGATAAGCACAAGGAGAACCTAGCAGCTATCATGATTACATACCCA
TCCACCAATGGGGTGTTTGAAGAGAACATCAGTGACGTGTGTGACCTCATCCATCAACAT
GGAGGACAGGTCTACCTAGACGGGGCAAATATGAATGCTCAGGTGGGAATCTGTCGCCCT
GGAGACTTCGGGTCTGATGTCTCGCACCTAAATCTTCACAAGACCTTCTGCATTCCCCAC
GGAGGAGGTGGTCCTGGCATGGGGCCCATCGGAGTGAAGAAACATCTCGCCCCGTTTTTG
CCCAATCATCCCGTCATTTCACTAAAGCGGAATGAGGATGCCTGTCCTGTGGGAACCGTC
AGTGCGGCCCCATGGGGCTCCAGTTCCATCTTGCCCATTTCCTGGGCTTATATCAAGATG
ATGGGAGGCAAGGGTCTTAAACAAGCCACGGAAACTGCGATATTAAATGCCAACTACATG
GCCAAGCGATTAGAAACACACTACAGAATTCTTTTCAGGGGTGCAAGAGGTTATGTGGGT
CATGAATTTATTTTGGACACGAGACCCTTCAAAAAGTCTGCAAATATTGAGGCTGTGGAT
GTGGCCAAGAGACTCCAGGATTATGGATTTCACGCCCCTACCATGTCCTGGCCTGTGGCA
GGGACCCTCATGGTGGAGCCCACTGAGTCGGAGGACAAGGCAGAGCTGGACAGATTCTGT
GATGCCATGATCAGCATTCGGCAGGAAATTGCTGACATTGAGGAGGGCCGCATCGACCCC
AGGGTCAATCCGCTGAAGATGTCTCCACACTCCCTGACCTGCGTTACATCTTCCCACTGG
GACCGGCCTTATTCCAGAGAGGTGGCAGCATTCCCACTCCCCTTCGTGAAACCAGAGAAC
AAATTCTGGCCAACGATTGCCCGGATTGATGACATATATGGAGATCAGCACCTGGTTTGT
ACCTGCCCACCCATGGAAGTTTATGAGTCTCCATTTTCTGAACAAAAGAGGGCGTCTTCT
TAG

1. Toone JR, Applegarth DA, Coulter-Mackie MB, James ER: Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). Mol Genet Metab. 2001 Apr;72(4):322-5. [PubMed ]
2. Applegarth DA, Toone JR: Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab. 2001 Sep-Oct;74(1-2):139-46. [PubMed ]
3. Kure S, Takayanagi M, Narisawa K, Tada K, Leisti J: Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. J Clin Invest. 1992 Jul;90(1):160-4. [PubMed ]
4. Kume A, Koyata H, Sakakibara T, Ishiguro Y, Kure S, Hiraga K: The glycine cleavage system. Molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures. J Biol Chem. 1991 Feb 15;266(5):3323-9. [PubMed ]
5. Kure S, Narisawa K, Tada K: Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia. Biochem Biophys Res Commun. 1991 Feb 14;174(3):1176-82. [PubMed ]

1. Mukherjee M, Brown MT, McArthur AG, Johnson PJ: Proteins of the glycine decarboxylase complex in the hydrogenosome of Trichomonas vaginalis. Eukaryot Cell. 2006 Dec;5(12):2062-71. [PubMed ]
2. Kanno J, Hutchin T, Kamada F, Narisawa A, Aoki Y, Matsubara Y, Kure S: Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet. 2007 Mar;44(3):e69. [PubMed ]
3. Engel N, van den Daele K, Kolukisaoglu U, Morgenthal K, Weckwerth W, Parnik T, Keerberg O, Bauwe H: Deletion of glycine decarboxylase in Arabidopsis is lethal under nonphotorespiratory conditions. Plant Physiol. 2007 Jul;144(3):1328-35. Epub 2007 May 11. [PubMed ]

1. Glycine receptor subunit alpha-2 precursor

MNRQLVNILTALFAFFLETNHFRTAFCKDHDSRSGKQPSQTLSPSDFLDKLMGRTSGYDA
RIRPNFKGPPVNVTCNIFINSFGSVTETTMDYRVNIFLRQQWNDSRLAYSEYPDDSLDLD
PSMLDSIWKPDLFFANEKGANFHDVTTDNKLLRISKNGKVLYSIRLTLTLSCPMDLKNFP
MDVQTCTMQLESFGYTMNDLIFEWLSDGPVQVAEGLTLPQFILKEEKELGYCTKHYNTGK
FTCIEVKFHLERQMGYYLIQMYIPSLLIVILSWVSFWINMDAAPARVALGITTVLTMTTQ
SSGSRASLPKVSYVKAIDIWMAVCLLFVFAALLEYAAVNFVSRQHKEFLRLRRRQKRQNK
EEDVTRESRFNFSGYGMGHCLQVKDGTAVKATPANPLPQPPKDGDAIKKKFVDRAKRIDT
ISRAAFPLAFLIFNIFYWITYKIIRHEDVHKK

• Neur_chan_LBD (PF02931 )
• Neur_chan_memb (PF02932 )

• 1-27

• 254-280
• 287-304
• 319-342
• 424-441

• Membrane
• multi-pass membrane protein

ATGAACCGGCAGCTAGTGAACATTTTGACAGCCTTGTTTGCATTTTTCTTAGAGACAAAC
CACTTCAGGACGGCTTTCTGCAAAGACCATGACTCCAGGTCTGGAAAACAACCTTCACAG
ACCCTATCTCCTTCAGATTTCTTGGACAAGTTAATGGGAAGGACATCAGGATATGATGCA
AGAATCAGGCCAAATTTTAAAGGTCCTCCAGTAAACGTTACTTGCAATATTTTTATCAAC
AGTTTTGGATCAGTCACAGAAACGACCATGGACTACCGAGTGAATATTTTTCTGAGACAA
CAGTGGAATGATTCACGGCTGGCGTACAGTGAGTACCCAGATGACTCCCTGGACTTGGAC
CCATCCATGCTAGACTCCATTTGGAAACCAGATTTGTTCTTTGCCAATGAGAAGGGTGCC
AACTTCCACGATGTCACCACTGACAACAAATTGCTACGGATTTCGAAAAATGGCAAAGTG
CTCTACAGTATCAGACTCACCTTGACCTTATCCTGTCCCATGGACTTGAAGAACTTTCCG
ATGGATGTCCAGACCTGTACAATGCAGCTGGAGAGTTTTGGGTACACGATGAATGACCTG
ATATTTGAGTGGTTAAGTGATGGTCCAGTGCAAGTTGCTGAAGGATTGACCCTGCCCCAG
TTTATTTTGAAAGAAGAGAAGGAACTTGGCTACTGTACAAAGCACTACAACACTGGAAAG
TTTACCTGCATTGAGGTCAAGTTTCACCTGGAACGCCAAATGGGATATTATTTGATCCAG
ATGTACATCCCAAGCCTGCTTATAGTAATTTTGTCCTGGGTTTCCTTTTGGATAAATATG
GATGCAGCCCCTGCCAGGGTCGCACTGGGCATCACCACAGTCTTAACGATGACCACCCAG
AGTTCAGGCTCCAGGGCATCTCTGCCAAAGGTCTCCTATGTAAAAGCGATTGACATCTGG
ATGGCGGTGTGCCTTCTGTTTGTGTTTGCTGCCTTACTGGAATACGCAGCGGTGAACTTC
GTCTCCAGGCAACACAAGGAGTTCCTGCGCCTCCGAAGAAGACAGAAGAGGCAGAATAAG
GAAGAAGACGTTACTCGTGAAAGTCGTTTTAATTTTAGCGGTTATGGGATGGGTCACTGC
CTCCAAGTGAAAGATGGAACAGCTGTCAAGGCCACACCTGCCAACCCACTCCCACAACCG
CCAAAAGATGGAGATGCTATCAAGAAGAAGTTTGTGGACCGGGCAAAAAGGATTGACACG
ATATCTCGAGCTGCCTTCCCATTGGCCTTCCTCATTTTCAACATCTTTTACTGGATCACA
TACAAGATCATTCGGCATGAAGATGTCCACAAGAAATAG

1. Grenningloh G, Schmieden V, Schofield PR, Seeburg PH, Siddique T, Mohandas TK, Becker CM, Betz H: Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J. 1990 Mar;9(3):771-6. [PubMed ]
2. Monani U, Burghes AH: Structure of the human alpha 2 subunit gene of the glycine receptor--use of vectorette and Alu-exon PCR. Genome Res. 1996 Dec;6(12):1200-6. [PubMed ]
3. Cummings CJ, Dahle EJ, Zoghbi HY: Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. Am J Med Genet. 1998 Jun 30;78(2):176-8. [PubMed ]

1. Young-Pearse TL, Ivic L, Kriegstein AR, Cepko CL: Characterization of mice with targeted deletion of glycine receptor alpha 2. Mol Cell Biol. 2006 Aug;26(15):5728-34. [PubMed ]
2. Qi Z, Stephens NR, Spalding EP: Calcium entry mediated by GLR3.3, an Arabidopsis glutamate receptor with a broad agonist profile. Plant Physiol. 2006 Nov;142(3):963-71. Epub 2006 Sep 29. [PubMed ]
3. Majumdar S, Heinze L, Haverkamp S, Ivanova E, Wassle H: Glycine receptors of A-type ganglion cells of the mouse retina. Vis Neurosci. 2007 Jul-Aug;24(4):471-87. Epub 2007 May 29. [PubMed ]

1. Glutamate receptor subunit epsilon-1 precursor
2. N-methyl D- aspartate receptor subtype 2A
3. NMDAR2A
4. NR2A
5. hNR2A

MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQA
AGLPLDVNVVALLMNRTDPKSLITHVCDLMSGARIHGLVFGDDTDQEAVAQMLDFISSHT
FVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGY
REFISFVKTTVDNSFVGWDMQNVITLDTSFEDAKTQVQLKKIHSSVILLYCSKDEAVLIL
SEARSLGLTGYDFFWIVPSLVSGNTELIPKEFPSGLISVSYDDWDYSLEARVRDGIGILT
TAASSMLEKFSYIPEAKASCYGQMERPEVPMHTLHPFMVNVTWDGKDLSFTEEGYQVHPR
LVVIVLNKDREWEKVGKWENHTLSLRHAVWPRYKSFSDCEPDDNHLSIVTLEEAPFVIVE
DIDPLTETCVRNTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVKFTYDLYLV
TNGKHGKKVNNVWNGMIGEVVYQRAVMAVGSLTINEERSEVVDFSVPFVETGISVMVSRS
NGTVSPSAFLEPFSASVWVMMFVMLLIVSAIAVFVFEYFSPVGYNRNLAKGKAPHGPSFT
IGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEFVD
QVTGLSDKKFQRPHDYSPPFRFGTVPNGSTERNIRNNYPYMHQYMTKFNQKGVEDALVSL
KTGKLDAFIYDAAVLNYKAGRDEGCKLVTIGSGYIFATTGYGIALQKGSPWKRQIDLALL
QFVGDGEMEELETLWLTGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSLITFIWEHL
FYWKLRFCFTGVCSDRPGLLFSISRGIYSCIHGVHIEEKKKSPDFNLTGSQSNMLKLLRS
AKNISSMSNMNSSRMDSPKRAADFIQRGSLIMDMVSDKGNLMYSDNRSFQGKESIFGDNM
NELQTFVANRQKDNLNNYVFQGQHPLTLNESNPNTVEVAVSTESKANSRPRQLWKKSVDS
IRQDSLSQNPVSQRDEATAENRTHSLKSPRYLPEEMAHSDISETSNRATCHREPDNSKNH
KTKDNFKRSVASKYPKDCSEVERTYLKTKSSSPRDKIYTIDGEKEPGFHLDPPQFVENVT
LPENVDFPDPYQDPSENFRKGDSTLPMNRNPLHNEEGLSNNDQYKLYSKHFTLKDKGSPH
SETSERYRQNSTHCRSCLSNMPTYSGHFTMRSPFKCDACLRMGNLYDIDEDQMLQETGNP
ATGEQVYQQDWAQNNALQLQKNKLRISRQHSYDNIVDKPRELDLSRPSRSISLKDRERLL
EGNFYGSLFSVPSSKLSGKKSSLFPQGLEDSKRSKSLLPDHTSDNPFLHSHRDDQRLVIG
RCPSDPYKHSLPSQAVNDSYLRSSLRSTASYCSRDSRGHNDVYISEHVMPYAANKNNMYS
TPRVLNSCSNRRVYKKMPSIESDV

• Lig_chan (PF00060 )

• 1-22

• 556-576
• 593-613
• 634-654
• 817-837

• Membrane
• multi-pass membrane protein

ATGGGCAGAGTGGGCTATTGGACCCTGCTGGTGCTGCCGGCCCTTCTGGTCTGGCGCGGT
CCGGCGCCGAGCGCGGCGGCGGAGAAGGGTCCCCCCGCGCTAAATATTGCGGTGATGCTG
GGTCACAGCCACGACGTGACAGAGCGCGAACTTCGAACACTGTGGGGCCCCGAGCAGGCG
GCGGGGCTGCCCCTGGACGTGAACGTGGTAGCTCTGCTGATGAACCGCACCGACCCCAAG
AGCCTCATCACGCACGTGTGCGACCTCATGTCCGGGGCACGCATCCACGGCCTCGTGTTT
GGGGACGACACGGACCAGGAGGCCGTAGCCCAGATGCTGGATTTTATCTCCTCCCACACC
TTCGTCCCCATCTTGGGCATTCATGGGGGCGCATCTATGATCATGGCTGACAAGGATCCG
ACGTCTACCTTCTTCCAGTTTGGAGCGTCCATCCAGCAGCAAGCCACGGTCATGCTGAAG
ATCATGCAGGATTATGACTGGCATGTCTTCTCCCTGGTGACCACTATCTTCCCTGGCTAC
AGGGAATTCATCAGCTTCGTCAAGACCACAGTGGACAACAGCTTTGTGGGCTGGGACATG
CAGAATGTGATCACACTGGACACTTCCTTTGAGGATGCAAAGACACAAGTCCAGCTGAAG
AAGATCCACTCTTCTGTCATCTTGCTCTACTGTTCCAAAGACGAGGCTGTTCTCATTCTG
AGTGAGGCCCGCTCCCTTGGCCTCACCGGGTATGATTTCTTCTGGATTGTCCCCAGCTTG
GTCTCTGGGAACACGGAGCTCATCCCAAAAGAGTTTCCATCGGGACTCATTTCTGTCTCC
TACGATGACTGGGACTACAGCCTGGAGGCGAGAGTGAGGGACGGCATTGGCATCCTAACC
ACCGCTGCATCTTCTATGCTGGAGAAGTTCTCCTACATCCCCGAGGCCAAGGCCAGCTGC
TACGGGCAGATGGAGAGGCCAGAGGTCCCGATGCACACCTTGCACCCATTTATGGTCAAT
GTTACATGGGATGGCAAAGACTTATCCTTCACTGAGGAAGGCTACCAGGTGCACCCCAGG
CTGGTGGTGATTGTGCTGAACAAAGACCGGGAATGGGAAAAGGTGGGCAAGTGGGAGAAC
CATACGCTGAGCCTGAGGCACGCCGTGTGGCCCAGGTACAAGTCCTTCTCCGACTGTGAG
CCGGATGACAACCATCTCAGCATCGTCACCCTGGAGGAGGCCCCATTCGTCATCGTGGAA
GACATAGACCCCCTAACCGAGACGTGTGTGAGGAACACCGTGCCATGTCGGAAGTTCGTC
AAAATCAACAATTCAACCAATGAGGGGATGAATGTGAAGAAATGCTGCAAGGGGTTCTGC
ATTGATATTCTGAAGAAGCTTTCCAGAACTGTGAAGTTTACTTACGACCTCTATCTGGTG
ACCAATGGGAAGCATGGCAAGAAAGTTAACAATGTGTGGAATGGAATGATCGGTGAAGTG
GTCTATCAACGGGCAGTCATGGCAGTTGGCTCGCTCACCATCAATGAGGAACGTTCTGAA
GTGGTGGACTTCTCTGTGCCCTTTGTGGAAACGGGAATCAGTGTCATGGTTTCAAGAAGT
AATGGCACCGTCTCACCTTCTGCTTTTCTAGAACCATTCAGCGCCTCTGTCTGGGTGATG
ATGTTTGTGATGCTGCTCATTGTTTCTGCCATAGCTGTTTTTGTCTTTGAATACTTCAGC
CCTGTTGGATACAACAGAAACTTAGCCAAAGGGAAAGCACCCCATGGGCCTTCTTTTACA
ATTGGAAAAGCTATATGGCTTCTTTGGGGCCTGGTGTTCAATAACTCCGTGCCTGTCCAG
AATCCTAAAGGGACCACCAGCAAGATCATGGTATCTGTATGGGCCTTCTTCGCTGTCATA
TTCCTGGCTAGCTACACAGCCAATCTGGCTGCCTTCATGATCCAAGAGGAATTTGTGGAC
CAAGTGACCGGCCTCAGTGACAAAAAGTTTCAGAGACCTCATGACTATTCCCCACCTTTT
CGATTTGGGACAGTGCCTAATGGAAGCACGGAGAGAAACATTCGGAATAACTATCCCTAC
ATGCATCAGTACATGACCAAATTTAATCAGAAAGGAGTAGAGGACGCCTTGGTCAGCCTG
AAAACGGGGAAGCTGGACGCTTTCATCTACGATGCCGCAGTCTTGAATTACAAGGCTGGG
AGGGATGAAGGCTGCAAGCTGGTGACCATCGGGAGTGGGTACATCTTTGCCACCACCGGT
TATGGAATTGCCCTTCAGAAAGGCTCTCCTTGGAAGAGGCAGATCGACCTGGCCTTGCTT
CAGTTTGTGGGTGATGGTGAGATGGAGGAGCTGGAGACCCTGTGGCTCACTGGGATCTGC
CACAACGAGAAGAACGAGGTGATGAGCAGCCAGCTGGACATTGACAACATGGCGGGCGTA
TTCTACATGCTGGCTGCCGCCATGGCCCTTAGCCTCATCACCTTCATCTGGGAGCACCTC
TTCTACTGGAAGCTGCGCTTCTGTTTCACGGGCGTGTGCTCCGACCGGCCTGGGTTGCTC
TTCTCCATCAGCAGGGGCATCTACAGCTGCATTCATGGAGTGCACATTGAAGAAAAGAAG
AAGTCTCCAGACTTCAATCTGACGGGATCCCAGAGCAACATGTTAAAACTCCTCCGGTCA
GCCAAAAACATTTCCAGCATGTCCAACATGAACTCCTCAAGAATGGACTCACCCAAAAGA
GCTGCTGACTTCATCCAAAGAGGTTCCCTCATCATGGACATGGTTTCAGATAAGGGGAAT
TTGATGTACTCAGACAACAGGTCCTTTCAGGGGAAAGAGAGCATTTTTGGAGACAACATG
AACGAACTCCAAACATTTGTGGCCAACCGGCAGAAGGATAACCTCAATAACTATGTATTC
CAGGGACAACATCCTCTTACTCTCAATGAGTCCAACCCTAACACGGTGGAGGTGGCCGTG
AGCACAGAATCCAAAGCGAACTCTAGACCCCGGCAGCTGTGGAAGAAATCCGTAGATTCC
ATACGCCAGGATTCACTATCCCAGAATCCAGTCTCCCAGAGGGATGAGGCAACAGCAGAG
AATAGGACCCACTCCCTAAAGAGCCCTAGGTATCTTCCAGAAGAGATGGCCCACTCTGAC
ATTTCAGAAACGTCAAATCGGGCCACGTGCCACAGGGAACCTGACAACAGTAAGAACCAC
AAAACCAAGGACAACTTTAAAAGGTCAGTGGCCTCCAAATACCCCAAGGACTGTAGTGAG
GTCGAGCGCACCTACCTGAAAACCAAATCAAGCTCCCCTAGAGACAAGATCTACACTATA
GATGGTGAGAAGGAGCCTGGTTTCCACTTAGATCCACCCCAGTTTGTTGAAAATGTGACC
CTGCCCGAGAACGTGGACTTCCCGGACCCCTACCAGGATCCCAGTGAAAACTTCCGCAAG
GGGGACTCCACGCTGCCAATGAACCGGAACCCCTTGCATAATGAAGAGGGGCTTTCCAAC
AACGACCAGTATAAACTCTACTCCAAGCACTTCACCTTGAAAGACAAGGGTTCCCCGCAC
AGTGAGACCAGCGAGCGATACCGGCAGAACTCCACGCACTGCAGAAGCTGCCTTTCCAAC
ATGCCCACCTATTCAGGCCACTTCACCATGAGGTCCCCCTTCAAGTGCGATGCCTGCCTG
CGGATGGGGAATCTCTATGACATCGATGAAGACCAGATGCTTCAGGAGACAGGTAACCCA
GCCACCGGGGAGCAGGTCTACCAGCAGGACTGGGCACAGAACAATGCCCTTCAATTACAA
AAGAACAAGCTAAGGATTAGCCGTCAGCATTCCTACGATAACATTGTCGACAAACCTAGG
GAGCTAGACCTTAGCAGGCCCTCCCGGAGCATAAGCCTCAAGGACAGGGAACGGCTTCTG
GAGGGAAATTTTTACGGCAGCCTGTTTAGTGTCCCCTCAAGCAAACTCTCGGGGAAAAAA
AGCTCCCTTTTCCCCCAAGGTCTGGAGGACAGCAAGAGGAGCAAGTCTCTCTTGCCAGAC
CACACCTCCGATAACCCTTTCCTCCACTCCCACAGGGATGACCAACGCTTGGTTATTGGG
AGATGCCCCTCGGACCCTTACAAACACTCGTTGCCATCCCAGGCGGTGAATGACAGCTAT
CTTCGGTCGTCCTTGAGGTCAACGGCATCGTACTGTTCCAGGGACAGTCGGGGCCACAAT
GATGTGTATATTTCGGAGCATGTTATGCCTTATGCTGCAAATAAGAATAATATGTACTCT
ACCCCCAGGGTTTTAAATTCCTGCAGCAATAGACGCGTGTACAAGAAAATGCCTAGTATC
GAATCTGATGTTTAA

1. Foldes RL, Adams SL, Fantaske RP, Kamboj RK: Human N-methyl-D-aspartate receptor modulatory subunit hNR2A: cloning and sequencing of the cDNA and primary structure of the protein. Biochim Biophys Acta. 1994 Aug 11;1223(1):155-9. [PubMed ]
2. Hess SD, Daggett LP, Crona J, Deal C, Lu CC, Urrutia A, Chavez-Noriega L, Ellis SB, Johnson EC, Velicelebi G: Cloning and functional characterization of human heteromeric N-methyl-D-aspartate receptors. J Pharmacol Exp Ther. 1996 Aug;278(2):808-16. [PubMed ]

1. Liu Y, Wong TP, Aarts M, Rooyakkers A, Liu L, Lai TW, Wu DC, Lu J, Tymianski M, Craig AM, Wang YT: NMDA receptor subunits have differential roles in mediating excitotoxic neuronal death both in vitro and in vivo. J Neurosci. 2007 Mar 14;27(11):2846-57. [PubMed ]
2. Domingues A, Almeida S, da Cruz e Silva EF, Oliveira CR, Rego AC: Toxicity of beta-amyloid in HEK293 cells expressing NR1/NR2A or NR1/NR2B N-methyl-D-aspartate receptor subunits. Neurochem Int. 2007 May;50(6):872-80. Epub 2007 Mar 7. [PubMed ]
3. Gabra BH, Kessler FK, Ritter JK, Dewey WL, Smith FL: Decrease in N-methyl-D-aspartic acid receptor-NR2B subunit levels by intrathecal short-hairpin RNA blocks group I metabotropic glutamate receptor-mediated hyperalgesia. J Pharmacol Exp Ther. 2007 Jul;322(1):186-94. Epub 2007 Apr 3. [PubMed ]
4. Brosnan RJ, Yang L, Milutinovic PS, Zhao J, Laster MJ, Eger EI 2nd, Sonner JM: Ammonia has anesthetic properties. Anesth Analg. 2007 Jun;104(6):1430-3, table of contents. [PubMed ]
5. Milutinovic PS, Yang L, Cantor RS, Eger EI 2nd, Sonner JM: Anesthetic-like modulation of a gamma-aminobutyric acid type A, strychnine-sensitive glycine, and N-methyl-d-aspartate receptors by coreleased neurotransmitters. Anesth Analg. 2007 Aug;105(2):386-92. [PubMed ]

1. 5-aminolevulinate synthase, erythroid-specific, mitochondrial precursor
2. 5-aminolevulinic acid synthase
3. ALAS-E
4. Delta- aminolevulinate synthase
5. Delta-ALA synthetase
6. EC 2.3.1.37

MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGG
DSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQ
EQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQH
FSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELE
QELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSDAGNHASMIQGIRNSGAAKF
VFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQYGALTFVDEVH
AVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFT
TSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRV
GNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAW
TAVGLPLQDVSVAACNFCRRPVHFELMSEWERSYFGNMGPQYVTTYA

• succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO2

• Aminotran_1_2 (PF00155 )
• Preseq_ALAS (PF09029 )

• None

• None

• Mitochondrion
• mitochondrial matrix

ATGCTGCTACAGTGCTGCCCAGTGCTTGCCCGGGGCCCCACAAGCCTCCTAGGCAAGGTG
GTTAAGACTCACCAGTTCCTGTTTGGTATTGGACGCTGTCCCATCCTGGCTACCCAAGGA
CCAAACTGTTCTCAAATCCACCTTAAGGCAACAAAGGCTGGAGGAGATTCTCCATCTTGG
GCGAAGGGCCACTGTCCCTTCATGCTGTCGGAACTCCAGGATGGGAAGAGCAAGATTGTG
CAGAAGGCAGCCCCAGAAGTCCAGGAAGATGTGAAGGCTTTCAAGACAGATCTGCCTAGC
TCCCTGGTCTCAGTCAGCCTAAGGAAGCCATTTTCCGGTCCCCAGGAGCAGGAGCAGATC
TCTGGGAAGGTCACACACCTGATTCAGAACAATATGCCTGGAAACTATGTCTTCAGTTAT
GACCAGTTTTTCAGGGACAAGATCATGGAGAAGAAACAGGATCACACCTACCGTGTGTTC
AAGACTGTGAACCGCTGGGCTGATGCATATCCCTTTGCCCAACATTTCTTTGAGGCATCT
GTGGCCTCAAAGGATGTGTCCGTCTGGTGTAGTAATGATTACCTGGGCATGAGCCGACAC
CCTCAGGTCTTGCAAGCCACACAGGAGACCCTGCAGCGTCATGGTGCTGGAGCTGGTGGC
ACCCGCAACATCTCAGGCACCAGTAAGTTTCATGTGGAGCTTGAGCAGGAGCTGGCTGAG
CTGCACCAGAAGGACTCAGCCCTGCTCTTCTCCTCCTGCTTTGTTGCCAATGACTCTACT
CTCTTCACCTTGGCCAAGATCCTGCCAGGGTGCGAGATTTACTCAGACGCAGGCAACCAT
GCTTCCATGATCCAAGGTATCCGTAACAGTGGAGCAGCCAAGTTTGTCTTCAGGCACAAT
GACCCTGACCACCTAAAGAAACTTCTAGAGAAGTCTAACCCTAAGATACCCAAAATTGTG
GCCTTTGAGACTGTCCACTCCATGGATGGTGCCATCTGTCCCCTCGAGGAGTTGTGTGAT
GTGTCCCACCAGTATGGGGCCCTGACCTTCGTGGATGAGGTCCATGCTGTAGGACTGTAT
GGGTCCCGGGGCGCTGGGATTGGGGAGCGTGATGGAATTATGCATAAGATTGACATCATC
TCTGGAACTCTTGGCAAGGCCTTTGGCTGTGTGGGCGGCTACATTGCCAGCACCCGTGAC
TTGGTGGACATGGTGCGCTCCTATGCTGCAGGCTTCATCTTTACCACTTCTCTGCCCCCC
ATGGTGCTCTCTGGAGCTCTAGAATCTGTGCGGCTGCTCAAGGGAGAGGAGGGCCAAGCC
CTGAGGCGAGCCCACCAGCGCAATGTCAAGCACATGCGCCAGCTACTCATGGACAGGGGC
CTTCCTGTCATCCCCTGCCCCAGCCACATCATCCCCATCCGGGTGGGCAATGCAGCACTC
AACAGCAAGCTCTGTGATCTCCTGCTCTCCAAGCATGGCATCTATGTGCAGGCCATCAAC
TACCCAACTGTCCCCCGGGGTGAAGAGCTCCTGCGCTTGGCACCCTCCCCCCACCACAGC
CCTCAGATGATGGAAGATTTTGTGGAGAAGCTGCTGCTGGCTTGGACTGCGGTGGGGCTG
CCCCTCCAGGATGTGTCTGTGGCTGCCTGCAATTTCTGTCGCCGTCCTGTACACTTTGAG
CTCATGAGTGAGTGGGAACGTTCCTACTTCGGGAACATGGGGCCCCAGTATGTCACCACC
TATGCCTGA

1. Cotter PD, May A, Li L, Al-Sabah AI, Fitzsimons EJ, Cazzola M, Bishop DF: Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Blood. 1999 Mar 1;93(5):1757-69. [PubMed ]
2. Harigae H, Furuyama K, Kudo K, Hayashi N, Yamamoto M, Sassa S, Sasaki T: A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. Am J Hematol. 1999 Oct;62(2):112-4. [PubMed ]
3. Cotter PD, Baumann M, Bishop DF: Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci U S A. 1992 May 1;89(9):4028-32. [PubMed ]
4. Cox TC, Bawden MJ, Martin A, May BK: Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA. EMBO J. 1991 Jul;10(7):1891-902. [PubMed ]
5. Bishop DF: Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes. Nucleic Acids Res. 1990 Dec 11;18(23):7187-8. [PubMed ]
6. Cox TC, Bottomley SS, Wiley JS, Bawden MJ, Matthews CS, May BK: X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. N Engl J Med. 1994 Mar 10;330(10):675-9. [PubMed ]
7. Surinya KH, Cox TC, May BK: Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase 2 gene. J Biol Chem. 1998 Jul 3;273(27):16798-809. [PubMed ]
8. Furuyama K, Uno R, Urabe A, Hayashi N, Fujita H, Kondo M, Sassa S, Yamamoto M: R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. Br J Haematol. 1998 Dec;103(3):839-41. [PubMed ]

1. Shoolingin-Jordan PM, Al-Daihan S, Alexeev D, Baxter RL, Bottomley SS, Kahari ID, Roy I, Sarwar M, Sawyer L, Wang SF: 5-Aminolevulinic acid synthase: mechanism, mutations and medicine. Biochim Biophys Acta. 2003 Apr 11;1647(1-2):361-6. [PubMed ]
2. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
3. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]
4. Hungerer C, Troup B, Romling U, Jahn D: Regulation of the hemA gene during 5-aminolevulinic acid formation in Pseudomonas aeruginosa. J Bacteriol. 1995 Mar;177(6):1435-43. [PubMed ]
5. Munakata H, Yamagami T, Nagai T, Yamamoto M, Hayashi N: Purification and structure of rat erythroid-specific delta-aminolevulinate synthase. J Biochem (Tokyo). 1993 Jul;114(1):103-11. [PubMed ]

1. GlyT-1
2. GlyT1
3. Solute carrier family 6 member 9

MAAAHGPVAPSSPEQVTLLPVQRSFFLPPFSGATPSTSLAESVLKVWHGAYNSGLLPQLM
AQHSLAMAQNGAVPSEATKRDQNLKRGNWGNQIEFVLTSVGYAVGLGNVWRFPYLCYRNG
GGAFMFPYFIMLIFCGIPLFFMELSFGQFASQGCLGVWRISPMFKGVGYGMMVVSTYIGI
YYNVVICIAFYYFFSSMTHVLPWAYCNNPWNTHDCAGVLDASNLTNGSRPAALPSNLSHL
LNHSLQRTSPSEEYWRLYVLKLSDDIGNFGEVRLPLLGCLGVSWLVVFLCLIRGVKSSGK
VVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQWDKILEAKVWGDAASQIFYSLAC
AWGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFVIFSILGFMANHLGVDVSRVAD
HGPGLAFVAYPEALTLLPISPLWSLLFFFMLILLGLGTQFCLLETLVTAIVDEVGNEWIL
QKKTYVTLGVAVAGFLLGIPLTSQAGIYWLLLMDNYAASFSLVVISCIMCVAIMYIYGHR
NYFQDIQMMLGFPPPLFFQICWRFVSPAIIFFILVFTVIQYQPITYNHYQYPGWAVAIGF
LMALSSVLCIPLYAMFRLCRTDGDTLLQRLKNATKPSRDWGPALLEHRTGRYAPTIAPSP
EDGFEVQSLHPDKAQIPIVGSNGSSRLQDSRI

• SNF (PF00209 )

• None

• 95-115
• 123-142
• 166-186
• 274-292
• 301-318
• 354-371
• 383-404
• 437-456
• 485-503
• 519-539
• 560-579
• 598-616

• Membrane
• multi-pass membrane protein

ATGGCCGCGGCTCATGGACCTGTGGCCCCCTCTTCCCCAGAACAGGTGACGCTTCTCCCT
GTTCAGAGATCCTTCTTCCTGCCACCCTTTTCTGGAGCCACTCCCTCTACTTCCCTAGCA
GAGTCTGTCCTCAAAGTCTGGCATGGGGCCTACAACTCTGGTCTCCTTCCCCAACTCATG
GCCCAGCACTCCCTAGCCATGGCCCAGAATGGTGCTGTGCCCAGCGAGGCCACCAAGAGG
GACCAGAACCTCAAACGGGGCAACTGGGGCAACCAGATCGAGTTTGTACTGACGAGCGTG
GGCTATGCCGTGGGCCTGGGCAATGTCTGGCGCTTCCCATACCTCTGCTATCGCAACGGG
GGAGGCGCCTTCATGTTCCCCTACTTCATCATGCTCATCTTCTGCGGGATCCCCCTCTTC
TTCATGGAGCTCTCCTTCGGCCAGTTTGCAAGCCAGGGGTGCCTGGGGGTCTGGAGGATC
AGCCCCATGTTCAAAGGAGTGGGCTATGGTATGATGGTGGTGTCCACCTACATCGGCATC
TACTACAATGTGGTCATCTGCATCGCCTTCTACTACTTCTTCTCGTCCATGACGCACGTG
CTGCCCTGGGCCTACTGCAATAACCCCTGGAACACGCATGACTGCGCCGGTGTACTGGAC
GCCTCCAACCTCACCAATGGCTCTCGGCCAGCCGCCTTGCCCAGCAACCTCTCCCACCTG
CTCAACCACAGCCTCCAGAGGACCAGCCCCAGCGAGGAGTACTGGAGGCTGTACGTGCTG
AAGCTGTCAGATGACATTGGGAACTTTGGGGAGGTGCGGCTGCCCCTCCTTGGCTGCCTC
GGTGTCTCCTGGTTGGTCGTCTTCCTCTGCCTCATCCGAGGGGTCAAGTCTTCAGGGAAA
GTGGTGTACTTCACGGCCACGTTCCCCTACGTGGTGCTGACCATTCTGTTTGTCCGCGGA
GTGACCCTGGAGGGAGCCTTTGACGGCATCATGTACTACCTAACCCCGCAGTGGGACAAG
ATCCTGGAGGCCAAGGTGTGGGGTGATGCTGCCTCCCAGATCTTCTACTCACTGGCGTGC
GCGTGGGGAGGCCTCATCACCATGGCTTCCTACAACAAGTTCCACAATAACTGTTACCGG
GACAGTGTCATCATCAGCATCACCAACTGTGCCACCAGCGTCTATGCTGGCTTCGTCATC
TTCTCCATCCTCGGCTTCATGGCCAATCACCTGGGCGTGGATGTGTCCCGTGTGGCAGAC
CACGGCCCTGGCCTGGCCTTCGTGGCTTACCCCGAGGCCCTCACACTACTTCCCATCTCC
CCGCTGTGGTCTCTGCTCTTCTTCTTCATGCTTATCCTGCTGGGGCTGGGCACTCAGTTC
TGCCTCCTGGAGACGCTGGTCACAGCCATTGTGGATGAGGTGGGGAATGAGTGGATCCTG
CAGAAAAAGACCTATGTGACCTTGGGCGTGGCTGTGGCTGGCTTCCTGCTGGGCATCCCC
CTCACCAGCCAGGCAGGCATCTATTGGCTGCTGCTGATGGACAACTATGCGGCCAGCTTC
TCCTTGGTGGTCATCTCCTGCATCATGTGTGTGGCCATCATGTACATCTACGGGCACCGG
AACTACTTCCAGGACATCCAGATGATGCTGGGATTCCCACCACCCCTCTTCTTTCAGATC
TGCTGGCGCTTCGTCTCTCCCGCCATCATCTTCTTTATTCTAGTTTTCACTGTGATCCAG
TACCAGCCGATCACCTACAACCACTACCAGTACCCAGGCTGGGCCGTGGCCATTGGCTTC
CTCATGGCTCTGTCCTCCGTCCTCTGCATCCCCCTCTACGCCATGTTCCGGCTCTGCCGC
ACAGACGGGGACACCCTCCTCCAGCGTTTGAAAAATGCCACAAAGCCAAGCAGAGACTGG
GGCCCTGCCCTCCTGGAGCACCGGACAGGGCGCTACGCCCCCACCATAGCCCCCTCTCCT
GAGGACGGCTTCGAGGTCCAGTCACTGCACCCGGACAAGGCGCAGATCCCCATTGTGGGC
AGTAATGGCTCCAGCCGCCTCCAGGACTCCCGGATATAG

1. Kim KM, Kingsmore SF, Han H, Yang-Feng TL, Godinot N, Seldin MF, Caron MG, Giros B: Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes. Mol Pharmacol. 1994 Apr;45(4):608-17. [PubMed ]

1. Wiles AL, Pearlman RJ, Rosvall M, Aubrey KR, Vandenberg RJ: N-Arachidonyl-glycine inhibits the glycine transporter, GLYT2a. J Neurochem. 2006 Nov;99(3):781-6. Epub 2006 Aug 8. [PubMed ]
2. Lindsley CW, Wolkenberg SE, Kinney GG: Progress in the preparation and testing of glycine transporter type-1 (GlyT1) inhibitors. Curr Top Med Chem. 2006;6(17):1883-96. [PubMed ]
3. Igartua I, Solis JM, Bustamante J: Glycine-induced long-term synaptic potentiation is mediated by the glycine transporter GLYT1. Neuropharmacology. 2007 Jun;52(8):1586-95. Epub 2007 Mar 14. [PubMed ]
4. Sur C, Kinney GG: Glycine transporter 1 inhibitors and modulation of NMDA receptor-mediated excitatory neurotransmission. Curr Drug Targets. 2007 May;8(5):643-9. [PubMed ]
5. Raiteri L, Stigliani S, Usai C, Diaspro A, Paluzzi S, Milanese M, Raiteri M, Bonanno G: Functional expression of release-regulating glycine transporters GLYT1 on GABAergic neurons and GLYT2 on astrocytes in mouse spinal cord. Neurochem Int. 2007 May 16;. [PubMed ]

1. EC 6.1.1.14
2. GlyRS
3. Glycine--tRNA ligase

MPSPRPVLLRGARAALLLLLPPRLLARPSLLLRRSLSAASCAPISLPAAASRSSMDGAGA
EEVLAPLRLAVRQQGDLVRKLKEDKAPQVDVDKAVAELKARKRVLEAKELALQPKDDIVD
RAKMEDTLKRRFFYDQAFAIYGGVSGLYDFGPVGCALKNNIIQTWRQHFIQEEQILEIDC
TMLTPEPVLKTSGHVDKFADFMVKDVKNGECFRADHLLKAHLQKLMSDKKCSVEKKSEME
SVLAQLDNYGQQELADLFVNYNVKSPITGNDLSPPVSFNLMFKTFIGPGGNMPGYLRPET
AQGIFLNFKRLLEFNQGKLPFAAAQIGNSFRNEISPRSGLIRVREFTMAEIEHFVDPSEK
DHPKFQNVADLHLYLYSAKAQVSGQSARKMRLGDAVEQGVINNTVLGYFIGRIYLYLTKV
GISPDKLRFRQHMENEMAHYACDCWDAESKTSYGWIEIVGCADRSCYDLSCHARATKVPL
VAEKPLKEPKTVNVVQFEPSKGAIGKAYKKDAKLVMEYLAICDECYITEMEMLLNEKGEF
TIETEGKTFQLTKDMINVKRFQKTLYVEEVVPNVIEPSFGLGRIMYTVFEHTFHVREGDE
QRTFFSFPAVVAPFKCSVLPLSQNQEFMPFVKELSEALTRHGVSHKVDDSSGSIGRRYAR
TDEIGVAFGVTIDFDTVNKTPHTATLRDRDSMRQIRAEISELPSIVQDLANGNITWADVE
ARYPLFEGQETGKKETIEE

• ATP + glycine + tRNAGly = AMP + diphosphate + glycyl-tRNAGly

• WHEP-TRS (PF00458 )
• tRNA-synt_2b (PF00587 )
• HGTP_anticodon (PF03129 )

• None

• None

ATGCCCTCTCCGCGTCCAGTGCTGCTTAGAGGTGCTCGCGCCGCTCTGCTGCTGCTGCTG
CCGCCCCGGCTCTTAGCCCGACCCTCGCTCCTGCTCCGCCGGTCCCTCAGCGCGGCCTCC
TGCGCCCCGATCTCCTTGCCCGCCGCCGCCTCCCGGAGCAGCATGGACGGCGCGGGGGCT
GAGGAGGTGCTGGCACCTCTGAGGCTAGCAGTGCGCCAGCAGGGAGATCTTGTGCGAAAA
CTCAAAGAAGATAAAGCACCCCAAGTAGACGTAGACAAAGCAGTGGCTGAGCTCAAAGCC
CGCAAGAGGGTTCTGGAAGCAAAGGAGCTGGCGTTACAGCCCAAAGATGATATTGTAGAC
CGAGCAAAAATGGAAGATACCCTGAAGAGGAGGTTTTTCTATGATCAAGCTTTTGCTATT
TATGGAGGTGTTAGTGGTCTGTATGACTTTGGGCCAGTTGGCTGTGCTTTGAAGAACAAT
ATTATTCAGACCTGGAGGCAGCACTTTATCCAAGAGGAACAGATCCTGGAGATCGATTGC
ACCATGCTCACCCCTGAGCCAGTTTTAAAGACCTCTGGCCATGTAGACAAATTTGCTGAC
TTCATGGTGAAAGACGTAAAAAATGGAGAATGTTTTCGTGCTGACCATCTATTAAAAGCT
CATTTACAGAAATTGATGTCTGATAAGAAGTGTTCTGTCGAAAAGAAATCAGAAATGGAA
AGTGTTTTGGCCCAGCTTGATAACTATGGACAGCAAGAACTTGCGGATCTTTTTGTGAAC
TATAATGTAAAATCTCCCATTACTGGAAATGATCTATCCCCTCCAGTGTCTTTTAACTTA
ATGTTCAAGACTTTCATTGGGCCTGGAGGAAACATGCCTGGGTACTTGAGACCAGAAACT
GCACAGGGGATTTTCTTGAATTTCAAACGACTTTTGGAGTTCAACCAAGGAAAGTTGCCT
TTTGCTGCTGCCCAGATTGGAAATTCTTTTAGAAATGAGATCTCCCCTCGATCTGGACTG
ATCAGAGTCAGAGAATTCACAATGGCAGAAATTGAGCACTTTGTAGATCCCAGTGAGAAA
GACCACCCCAAGTTCCAGAATGTGGCAGACCTTCACCTTTATTTGTATTCAGCAAAAGCC
CAGGTCAGCGGACAGTCCGCTCGGAAAATGCGCCTGGGAGATGCTGTTGAACAGGGTGTG
ATTAATAACACAGTATTAGGCTATTTCATTGGCCGCATCTACCTCTACCTCACGAAGGTT
GGAATATCTCCAGATAAACTCCGCTTCCGGCAGCACATGGAGAATGAGATGGCCCATTAT
GCCTGTGACTGTTGGGATGCAGAATCCAAAACATCCTACGGTTGGATTGAGATTGTTGGA
TGTGCTGATCGTTCCTGTTATGACCTCTCCTGTCATGCACGAGCCACCAAAGTCCCACTT
GTAGCTGAGAAACCTCTGAAAGAACCCAAAACAGTCAATGTTGTTCAGTTTGAACCCAGT
AAGGGAGCAATTGGTAAGGCATATAAGAAGGATGCAAAACTGGTGATGGAGTATCTTGCC
ATTTGTGATGAGTGCTACATTACAGAAATGGAGATGCTGCTGAATGAGAAAGGGGAATTC
ACAATTGAAACTGAAGGGAAAACATTTCAGTTAACAAAAGACATGATCAATGTGAAGAGA
TTCCAGAAAACACTATATGTGGAAGAAGTTGTTCCGAATGTAATTGAACCTTCCTTCGGC
CTGGGTAGGATCATGTATACGGTATTTGAACATACATTCCATGTACGAGAAGGAGATGAA
CAGAGAACATTCTTCAGTTTCCCTGCTGTAGTTGCTCCATTCAAATGTTCCGTCCTCCCA
CTGAGCCAAAACCAGGAGTTCATGCCATTTGTCAAGGAATTATCGGAAGCCCTGACCAGG
CATGGAGTATCTCACAAAGTAGACGATTCCTCTGGGTCAATCGGAAGGCGCTATGCCAGG
ACTGATGAGATTGGCGTGGCTTTTGGTGTCACCATTGACTTTGACACAGTGAACAAGACC
CCCCACACTGCAACTCTGAGGGACCGTGACTCAATGCGGCAGATAAGAGCAGAGATCTCT
GAGCTGCCCAGCATAGTCCAAGACCTAGCCAATGGCAACATCACATGGGCTGATGTGGAG
GCCAGGTATCCTCTGTTTGAAGGGCAAGAGACTGGTAAAAAAGAGACAATCGAGGAATGA

1. Williams J, Osvath S, Khong TF, Pearse M, Power D: Cloning, sequencing and bacterial expression of human glycine tRNA synthetase. Nucleic Acids Res. 1995 Apr 25;23(8):1307-10. [PubMed ]
2. Ge Q, Trieu EP, Targoff IN: Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis. J Biol Chem. 1994 Nov 18;269(46):28790-7. [PubMed ]
3. Shiba K, Schimmel P, Motegi H, Noda T: Human glycyl-tRNA synthetase. Wide divergence of primary structure from bacterial counterpart and species-specific aminoacylation. J Biol Chem. 1994 Nov 25;269(47):30049-55. [PubMed ]

1. Scherer SS: Inherited neuropathies: new genes don't fit old models. Neuron. 2006 Sep 21;51(6):672-4. [PubMed ]
2. Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED: Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci. 2006 Oct 11;26(41):10397-406. [PubMed ]
3. Okamoto K, Kuno A, Hasegawa T: Recognition sites of glycine tRNA for glycyl-tRNA synthetase from hyperthermophilic archaeon, Aeropyrum pernix K1. Nucleic Acids Symp Ser (Oxf). 2005;(49):299-300. [PubMed ]
4. Tsang SW, Vinters HV, Cummings JL, Wong PT, Chen CP, Lai MK: Alterations in NMDA receptor subunit densities and ligand binding to glycine recognition sites are associated with chronic anxiety in Alzheimer's disease. Neurobiol Aging. 2007 Apr 10;. [PubMed ]
5. Cader MZ, Ren J, James PA, Bird LE, Talbot K, Stammers DK: Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. FEBS Lett. 2007 Jun 26;581(16):2959-64. Epub 2007 May 29. [PubMed ]

1. Mitochondrial

MLYFSLFWAARPLQRCGQLVRMAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELL
QREKDRQCRGLELIASENFCSRAALEALGSCLNNKYSEGYPGKRYYGGAEVVDEIELLCQ
RRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDV
KRISATSIFFESMPYKLNPKTGLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREV
CDEVKAHLLADMAHISGLVAAKVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVD
PKTGREIPYTFEDRINFAVFPSLQGGPHNHAIAAVAVALKQACTPMFREYSLQVLKNARA
MADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAIT
PGGLRLGAPALTSRQFHEDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQ
RLANLRQRVEQFARAFPMPGFDEH

• SHMT (PF00464 )

• None

• None

ATGCTGTACTTCTCTTTGTTTTGGGCGGCTCGGCCTCTGCAGAGATGTGGGCAGCTGGTC
AGGATGGCCATTCGGGCTCAGCACAGCAACGCAGCCCAGACTCAGACTGGGGAAGCAAAC
AGGGGCTGGACAGGCCAGGAGAGCCTGTCGGACAGTGATCCTGAGATGTGGGAGTTGCTG
CAGAGGGAGAAGGACAGGCAGTGTCGTGGCCTGGAGCTCATTGCCTCAGAGAACTTCTGC
AGCCGAGCTGCGCTGGAGGCCCTGGGGTCCTGTCTGAACAACAAGTACTCGGAGGGTTAT
CCTGGCAAGAGATACTATGGGGGAGCAGAGGTGGTGGATGAAATTGAGCTGCTGTGCCAG
CGCCGGGCCTTGGAAGCCTTTGACCTGGATCCTGCACAGTGGGGAGTCAATGTCCAGCCC
TACTCCGGGTCCCCAGCCAACCTGGCCGTCTACACAGCCCTTCTGCAACCTCACGACCGG
ATCATGGGGCTGGACCTGCCCGATGGGGGCCATCTCACCCACGGCTACATGTCTGACGTC
AAGCGGATATCAGCCACGTCCATCTTCTTCGAGTCTATGCCCTATAAGCTCAACCCCAAA
ACTGGCCTCATTGACTACAACCAGCTGGCACTGACTGCTCGACTTTTCCGGCCACGGCTC
ATCATAGCTGGCACCAGCGCCTATGCTCGCCTCATTGACTACGCCCGCATGAGAGAGGTG
TGTGATGAAGTCAAAGCACACCTGCTGGCAGACATGGCCCACATCAGTGGCCTGGTGGCT
GCCAAGGTGATTCCCTCGCCTTTCAAGCACGCGGACATCGTCACCACCACTACTCACAAG
ACTCTTCGAGGGGCCAGGTCAGGGCTCATCTTCTACCGGAAAGGGGTGAAGGCTGTGGAC
CCCAAGACTGGCCGGGAGATCCCTTACACATTTGAGGACCGAATCAACTTTGCCGTGTTC
CCATCCCTGCAGGGGGGCCCCCACAATCATGCCATTGCTGCAGTAGCTGTGGCCCTAAAG
CAGGCCTGCACCCCCATGTTCCGGGAGTACTCCCTGCAGGTTCTGAAGAATGCTCGGGCC
ATGGCAGATGCCCTGCTAGAGCGAGGCTACTCACTGGTATCAGGTGGTACTGACAACCAC
CTGGTGCTGGTGGACCTGCGGCCCAAGGGCCTGGATGGAGCTCGGGCTGAGCGGGTGCTA
GAGCTTGTATCCATCACTGCCAACAAGAACACCTGTCCTGGAGACCGAAGTGCCATCACA
CCGGGCGGCCTGCGGCTTGGGGCCCCAGCCTTAACTTCTCGACAGTTCCATGAGGATGAC
TTCCGGAGAGTTGTGGACTTTATAGATGAAGGGGTCAACATTGGCTTAGAGGTGAAGAGC
AAGACTGCCAAGCTCCAGGATTTCAAATCCTTCCTGCTTAAGGACTCAGAAACAAGTCAG
CGTCTGGCCAACCTCAGGCAACGGGTGGAGCAGTTTGCCAGGGCCTTCCCCATGCCTGGT
TTTGATGAGCATTGA

1. Maruyama K, Sugano S: Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. Gene. 1994 Jan 28;138(1-2):171-4. [PubMed ]
2. Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S: Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. Gene. 1997 Oct 24;200(1-2):149-56. [PubMed ]

1. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
2. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]
3. Kon K, Ikejima K, Okumura K, Aoyama T, Arai K, Takei Y, Lemasters JJ, Sato N: Role of apoptosis in acetaminophen hepatotoxicity. J Gastroenterol Hepatol. 2007 Jun;22 Suppl 1:S49-52. [PubMed ]
4. Chang WN, Tsai JN, Chen BH, Huang HS, Fu TF: Serine hydroxymethyltransferase isoforms are differentially inhibited by leucovorin-Characterization and comparison of recombinant zebrafish serine hydroxymethyltransferases. Drug Metab Dispos. 2007 Jul 30;. [PubMed ]
5. Bouwman RA, Musters RJ, van Beek-Harmsen BJ, de Lange JJ, Lamberts RR, Loer SA, Boer C: Sevoflurane-induced cardioprotection depends on PKC-{alpha} activation via production of reactive oxygen species. Br J Anaesth. 2007 Sep 27;. [PubMed ]

ELRCCTSLCFGRLGLCRDVGSWSGWPFGLSTATQPRLRLGKQTGAGQARRACRTVILRCG
SCCRGRRTGSVVAWSSLPQRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPYSGS
PANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDVKRISATSIFFESMPYKLNPKTGLI
DYNQLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLADMAHISGLVAAKVI
PSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVFPSLQ
GGPHNHAIAAVAVALKQACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHLVLV
DLRPKGLDGARAERVLELVSITANKNTCPGDRSAITPGGLRLGAPALTSRQFREDDFRRV
VDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVEQFARAFPMPGFDEH

• SHMT (PF00464 )

• None

• None

CCGAGTTGCGATGCTGTACTTCTCTTTGTTTTGGGCGGCTCGGCCTCTGCAGAGATGTGG
GCAGCTGGTCAGGATGGCCATTCGGGCTCAGCACAGCAACGCAGCCCAGACTCAGACTGG
GGAAGCAAACAGGGGCTGGACAGGCCAGGAGAGCCTGTCGGACAGTGATCCTGAGATGTG
GGAGTTGCTGCAGAGGGAGAAGGACAGGCAGTGTCGTGGCCTGGAGCTCATTGCCTCAGA
GATACTATGGGGGAGCAGAGGTGGTGGATGAAATTGAGCTGCTGTGCCAGCGCCGGGCCT
TGGAAGCCTTTGACCTGGATCCTGCACAGTGGGGAGTCAATGTCCAGCCCTACTCCGGGT
CCCCAGCCAACCTGGCCGTCTACACAGCCCTTCTGCAACCTCACGACCGGATCATGGGGC
TGGACCTGCCCGATGGGGGCCATCTCACCCACGGCTACATGTCTGACGTCAAGCGGATAT
CAGCCACGTCCATCTTCTTCGAGTCTATGCCCTATAAGCTCAACCCCAAAACTGGCCTCA
TTGACTACAACCAGCTGGCACTGACTGCTCGACTTTTCCGGCCACGGCTCATCATAGCTG
GCACCAGCGCCTATGCTCGCCTCATTGACTACGCCCGCATGAGAGAGGTGTGTGATGAAG
TCAAAGCACACCTGCTGGCAGACATGGCCCACATCAGTGGCCTGGTGGCTGCCAAGGTGA
TTCCCTCGCCTTTCAAGCACGCGGACATCGTCACCACCACTACTCACAAGACTCTTCGAG
GGGCCAGGTCAGGGCTCATCTTCTACCGGAAAGGGGTGAAGGCTGTGGACCCCAAGACTG
GCCGGGAGATCCCTTACACATTTGAGGACCGAATCAACTTTGCCGTGTTCCCATCCCTGC
AGGGGGGCCCCCACAATCATGCCATTGCTGCAGTAGCTGTGGCCCTAAAGCAGGCCTGCA
CCCCCATGTTCCGGGAGTACTCCCTGCAGGTTCTGAAGAATGCTCGGGCCATGGCAGATG
CCCTGCTAGAGCGAGGCTACTCACTGGTATCAGGTGGTACTGACAACCACCTGGTGCTGG
TGGACCTGCGGCCCAAGGGCCTGGATGGAGCTCGGGCTGAGCGGGTGCTAGAGCTTGTAT
CCATCACTGCCAACAAGAACACCTGTCCTGGAGACCGAAGTGCCATCACACCGGGCGGCC
TGCGGCTTGGGGCCCCAGCCTTAACTTCTCGACAGTTCCGTGAGGATGACTTCCGGAGAG
TTGTGGACTTTATAGATGAAGGGGTCAACATTGGCTTAGAGGTGAAGAGCAAGACTGCCA
AGCTCCAGGATTTCAAATCCTTCCTGCTTAAGGACTCAGAAACAAGTCAGCGTCTGGCCA
ACCTCAGGCAACGGGTGGAGCAGTTTGCCAGGGCCTTCCCCATGCCTGGTTTTGATGAGC
ATTGA

1. Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA: Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. [PubMed ]

1. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
2. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]

MAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELLQREKDRQCRGLELIASENFCS
RAALEALGSCLNNKYPEGYPGKRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPY
SGSPANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDVKRISATSIFFESMPYKLNPKT
GLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLADMAHISGLVAA
KVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVFP
SLQGGPHNHAIAAVAVALKQACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHL
VLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAITPGGLRLGAPALTSRQFREDDF
RRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVEQFARAFPMPGF
DEH

• SHMT (PF00464 )

• None

• None

ATGGCCATTCGGGCTCAGCACAGCAACGCAGCCCAGACTCAGACTGGGGAAGCAAACAGG
GGCTGGACAGGCCAGGAGAGCCTGTCGGACAGTGATCCTGAGATGTGGGAGTTGCTGCAG
AGGGAGAAGGACAGGCAGTGTCGTGGCCTGGAGCTCATTGCCTCAGAGAACTTCTGCAGC
CGAGCTGCGCTGGAGGCCCTGGGGTCCTGTCTGAACAACAAGTACCCGGAGGGTTATCCT
GGCAAGAGATACTATGGGGGAGCAGAGGTGGTGGATGAAATTGAGCTGCTGTGCCAGCGC
CGGGCCTTGGAAGCCTTTGACCTGGATCCTGCACAGTGGGGAGTCAATGTCCAGCCCTAC
TCCGGGTCCCCAGCCAACCTGGCCGTCTACACAGCCCTTCTGCAACCTCACGACCGGATC
ATGGGGCTGGACCTGCCCGATGGGGGCCATCTCACCCACGGCTACATGTCTGACGTCAAG
CGGATATCAGCCACGTCCATCTTCTTCGAGTCTATGCCCTATAAGCTCAACCCCAAAACT
GGCCTCATTGACTACAACCAGCTGGCACTGACTGCTCGACTTTTCCGGCCACGGCTCATC
ATAGCTGGCACCAGCGCCTATGCTCGCCTCATTGACTACGCCCGCATGAGAGAGGTGTGT
GATGAAGTCAAAGCACACCTGCTGGCAGACATGGCCCACATCAGTGGCCTGGTGGCTGCC
AAGGTGATTCCCTCGCCTTTCAAGCACGCGGACATCGTCACCACCACTACTCACAAGACT
CTTCGAGGGGCCAGGTCAGGGCTCATCTTCTACCGGAAAGGGGTGAAGGCTGTGGACCCC
AAGACTGGCCGGGAGATCCCTTACACATTTGAGGACCGAATCAACTTTGCCGTGTTCCCA
TCCCTGCAGGGGGGCCCCCACAATCATGCCATTGCTGCAGTAGCTGTGGCCCTAAAGCAG
GCCTGCACCCCCATGTTCCGGGAGTACTCCCTGCAGGTTCTGAAGAATGCTCGGGCCATG
GCAGATGCCCTGCTAGAGCGAGGCTACTCACTGGTATCAGGTGGTACTGACAACCACCTG
GTGCTGGTGGACCTGCGGCCCAAGGGCCTGGATGGAGCTCGGGCTGAGCGGGTGCTAGAG
CTTGTATCCATCACTGCCAACAAGAACACCTGTCCTGGAGACCGAAGTGCCATCACACCG
GGCGGCCTGCGGCTTGGGGCCCCAGCCTTAACTTCTCGACAGTTCCGTGAGGATGACTTC
CGGAGAGTTGTGGACTTTATAGATGAAGGGGTCAACATTGGCTTAGAGGTGAAGAGCAAG
ACTGCCAAGCTCCAGGATTTCAAATCCTTCCTGCTTAAGGACTCAGAAACAAGTCAGCGT
CTGGCCAACCTCAGGCAACGGGTGGAGCAGTTTGCCAGGGCCTTCCCCATGCCTGGTTTT
GATGAGCATTGA

1. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
2. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]

MLYFSLFWAARPLQRCGQLVRMAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELL
QREKDRQCRGLELIASENFCSRAALEALGSCLNNKYSEGYPGKRYYGGAEVVDEIELLCQ
RRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDV
KRISATSIFFESMPYKLNLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLA
DMAHISGLVAAKVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYT
FEDRINFAVFPSLQGGPHNHAIAAVAVALKQACTPMFREYSLQVLKNARAMADALLERGY
SLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAITPGGLRLGAPA
LTSRQFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVE
QFARAFPMPGFDEH

• SHMT (PF00464 )

• None

• None

ATGCTGTACTTCTCTTTGTTTTGGGCGGCTCGGCCTCTGCAGAGATGTGGGCAGCTGGTC
AGGATGGCCATTCGGGCTCAGCACAGCAACGCAGCCCAGACTCAGACTGGGGAAGCAAAC
AGGGGCTGGACAGGCCAGGAGAGCCTGTCGGACAGTGATCCTGAGATGTGGGAGTTGCTG
CAGAGGGAGAAGGACAGGCAGTGTCGTGGCCTGGAGCTCATTGCCTCAGAGAACTTCTGC
AGCCGAGCTGCGCTGGAGGCCCTGGGGTCCTGTCTGAACAACAAGTACTCGGAGGGTTAT
CCTGGCAAGAGATACTATGGGGGAGCAGAGGTGGTGGATGAAATTGAGCTGCTGTGCCAG
CGCCGGGCCTTGGAAGCCTTTGACCTGGATCCTGCACAGTGGGGAGTCAATGTCCAGCCC
TACTCCGGGTCCCCAGCCAACCTGGCCGTCTACACAGCCCTTCTGCAACCTCACGACCGG
ATCATGGGGCTGGACCTGCCCGATGGGGGCCATCTCACCCACGGCTACATGTCTGACGTC
AAGCGGATATCAGCCACGTCCATCTTCTTCGAGTCTATGCCCTATAAGCTCAACCTGGCA
CTGACTGCTCGACTTTTCCGGCCACGGCTCATCATAGCTGGCACCAGCGCCTATGCTCGC
CTCATTGACTACGCCCGCATGAGAGAGGTGTGTGATGAAGTCAAAGCACACCTGCTGGCA
GACATGGCCCACATCAGTGGCCTGGTGGCTGCCAAGGTGATTCCCTCGCCTTTCAAGCAC
GCGGACATCGTCACCACCACTACTCACAAGACTCTTCGAGGGGCCAGGTCAGGGCTCATC
TTCTACCGGAAAGGGGTGAAGGCTGTGGACCCCAAGACTGGCCGGGAGATCCCTTACACA
TTTGAGGACCGAATCAACTTTGCCGTGTTCCCATCCCTGCAGGGGGGCCCCCACAATCAT
GCCATTGCTGCAGTAGCTGTGGCCCTAAAGCAGGCCTGCACCCCCATGTTCCGGGAGTAC
TCCCTGCAGGTTCTGAAGAATGCTCGGGCCATGGCAGATGCCCTGCTAGAGCGAGGCTAC
TCACTGGTATCAGGTGGTACTGACAACCACCTGGTGCTGGTGGACCTGCGGCCCAAGGGC
CTGGATGGAGCTCGGGCTGAGCGGGTGCTAGAGCTTGTATCCATCACTGCCAACAAGAAC
ACCTGTCCTGGAGACCGAAGTGCCATCACACCGGGCGGCCTGCGGCTTGGGGCCCCAGCC
TTAACTTCTCGACAGTTCCGTGAGGATGACTTCCGGAGAGTTGTGGACTTTATAGATGAA
GGGGTCAACATTGGCTTAGAGGTGAAGAGCAAGACTGCCAAGCTCCAGGATTTCAAATCC
TTCCTGCTTAAGGACTCAGAAACAAGTCAGCGTCTGGCCAACCTCAGGCAACGGGTGGAG
CAGTTTGCCAGGGCCTTCCCCATGCCTGGTTTTGATGAGCATTGA

1. Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA: Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. [PubMed ]

1. Gagnon D, Foucher A, Girard I, Ouellette M: Stage specific gene expression and cellular localization of two isoforms of the serine hydroxymethyltransferase in the protozoan parasite Leishmania. Mol Biochem Parasitol. 2006 Nov;150(1):63-71. Epub 2006 Jul 13. [PubMed ]
2. Mukherjee M, Sievers SA, Brown MT, Johnson PJ: Identification and biochemical characterization of serine hydroxymethyl transferase in the hydrogenosome of Trichomonas vaginalis. Eukaryot Cell. 2006 Dec;5(12):2072-8. Epub 2006 Sep 15. [PubMed ]
3. Vatsyayan R, Roy U: Molecular cloning and biochemical characterization of Leishmania donovani serine hydroxymethyltransferase. Protein Expr Purif. 2007 Apr;52(2):433-40. Epub 2006 Oct 26. [PubMed ]
4. Rajinikanth M, Harding SA, Tsai CJ: The glycine decarboxylase complex multienzyme family in Populus. J Exp Bot. 2007;58(7):1761-70. Epub 2007 Mar 12. [PubMed ]
5. Chang WN, Tsai JN, Chen BH, Huang HS, Fu TF: Serine hydroxymethyltransferase isoforms are differentially inhibited by leucovorin-Characterization and comparison of recombinant zebrafish serine hydroxymethyltransferases. Drug Metab Dispos. 2007 Jul 30;. [PubMed ]

1. Glycine cleavage system H protein, mitochondrial precursor

MALRVVRSVRALLCTLRAVPLPAAPCPPRPWQLGVGAVRTLRTGPALLSVRKFTEKHEWV
TTENGIGTVGISNFAQEALGDVVYCSLPEVGTKLNKQDEFGALESVKAASELYSPLSGEV
TEINEALAENPGLVNKSCYEDGWLIKMTLSNPSELDELMSEEAYEKYIKSIEE

• GCV_H (PF01597 )

• None

• None

• Mitochondrion

ATGGCGCTGCGAGTGGTGCGGAGCGTGCGGGCCCTGCTCTGCACCCTGCGCGCGGTCCCG
TTACCCGCCGCGCCCTGCCCGCCGAGGCCCTGGCAGCTGGGGGTGGGCGCCGTCCGTACG
CTGCGCACTGGACCCGCTCTGCTCTCGGTGCGTAAATTCACAGAGAAACACGAATGGGTA
ACAACAGAAAATGGCATTGGAACAGTGGGAATCAGCAATTTTGCACAGGAAGCGTTGGGA
GATGTTGTTTATTGTAGTCTCCCTGAAGTTGGGACAAAATTGAACAAACAAGATGAGTTT
GGTGCTTTGGAAAGTGTGAAAGCTGCTAGTGAACTCTATTCTCCTTTATCAGGAGAAGTA
ACTGAAATTAATGAAGCTCTTGCAGAAAATCCAGGACTTGTAAACAAATCTTGTTATGAA
GATGGTTGGCTGATCAAGATGACACTGAGTAACCCTTCAGAACTAGATGAACTTATGAGT
GAAGAAGCATATGAGAAATACATAAAATCTATTGAGGAGTGA

1. Koyata H, Hiraga K: The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias. Am J Hum Genet. 1991 Feb;48(2):351-61. [PubMed ]
2. Fujiwara K, Okamura-Ikeda K, Hayasaka K, Motokawa Y: The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning. Biochem Biophys Res Commun. 1991 Apr 30;176(2):711-6. [PubMed ]

1. Kanno J, Hutchin T, Kamada F, Narisawa A, Aoki Y, Matsubara Y, Kure S: Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet. 2007 Mar;44(3):e69. [PubMed ]

1. BACAT
2. BAT
3. EC 2.3.1.65
4. EC 3.1.2.2
5. Glycine N-choloyltransferase
6. Long-chain fatty-acyl-CoA hydrolase

MIQLTATPVSALVDEPVHIRATGLIPFQMVSFQASLEDENGDMFYSQAHYRANEFGEVDL
NHASSLGGDYMGVHPMGLFWSLKPEKLLTRLLKRDVMNRPFQVQVKLYDLELIVNNKVAS
APKASLTLERWYVAPGVTRIKVREGRLRGALFLPPGEGLFPGVIDLFGGLGGLLEFRASL
LASRGFASLALAYHNYEDLPRKPEVTDLEYFEEAANFLLRHPKVFGSGVGVVSVCQGVQI
GLSMAIYLKQVTATVLINGTNFPFGIPQVYHGQIHQPLPHSAQLISTNALGLLELYRTFE
TTQVGASQYLFPIEEAQGQFLFIVGEGDKTINSKAHAEQAIGQLKRHGKNNWTLLSYPGA
GHLIEPPYSPLCCASTTHDLRLHWGGEVIPHAAAQEHAWKEIQRFLRKHLIPDVTSQL

• palmitoyl-CoA + H2O = CoA + palmitate

• Bile_Hydr_Trans (PF04775 )
• BAAT_C (PF08840 )

• None

• None

• Cytoplasm

ATGATCCAGTTGACAGCTACCCCTGTGAGTGCACTTGTTGATGAGCCAGTGCATATCCGA
GCTACAGGCCTGATTCCCTTTCAGATGGTGAGTTTTCAGGCATCACTGGAAGATGAAAAC
GGAGACATGTTTTATTCTCAAGCCCACTATAGGGCCAATGAATTCGGTGAGGTGGACCTG
AATCATGCTTCTTCACTTGGAGGGGATTATATGGGAGTCCACCCCATGGGTCTCTTCTGG
TCTCTGAAACCTGAAAAGCTATTAACAAGACTGTTGAAAAGAGATGTGATGAATAGGCCT
TTCCAGGTCCAAGTAAAACTTTATGACTTAGAGTTAATAGTGAACAATAAAGTTGCCAGT
GCTCCAAAGGCCAGCCTGACTTTGGAGAGGTGGTATGTGGCACCTGGTGTCACACGAATT
AAGGTTCGAGAAGGCCGCCTTCGAGGAGCTCTCTTTCTCCCTCCAGGAGAGGGTCTCTTC
CCAGGGGTAATTGATTTGTTTGGTGGTTTGGGTGGGCTGCTTGAATTTCGGGCCAGCCTC
CTAGCCAGTCGTGGCTTCGCCTCCTTGGCCTTGGCTTACCATAACTATGAAGACCTGCCC
CGCAAACCAGAAGTAACAGATTTGGAATATTTTGAGGAGGCTGCCAACTTTCTCCTGAGA
CATCCAAAGGTCTTTGGCTCAGGCGTTGGGGTAGTCTCTGTATGTCAAGGAGTACAGATT
GGACTATCTATGGCTATTTACCTAAAGCAAGTCACAGCCACGGTACTTATTAATGGGACC
AACTTTCCTTTTGGCATTCCACAGGTATATCATGGTCAGATCCATCAGCCCCTTCCCCAT
TCTGCACAATTAATATCCACCAATGCCTTGGGGTTACTAGAGCTCTATCGCACTTTTGAG
ACAACTCAAGTTGGGGCCAGTCAATATTTGTTTCCTATTGAAGAGGCCCAGGGGCAATTC
CTCTTCATTGTAGGAGAAGGTGATAAGACTATCAACAGCAAAGCACACGCTGAACAAGCC
ATAGGACAGCTGAAGAGACATGGGAAGAACAACTGGACCCTGCTATCTTACCCTGGGGCA
GGCCACCTGATAGAACCTCCCTATTCTCCTCTGTGCTGTGCCTCAACGACCCACGATTTG
AGGTTACACTGGGGAGGAGAGGTGATCCCACACGCAGCTGCACAGGAACATGCTTGGAAG
GAGATCCAGAGATTTCTCAGGAAGCACCTCATTCCAGATGTGACCAGTCAACTCTAA

1. Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN: Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003 May;34(1):91-6. [PubMed ]
2. Falany CN, Johnson MR, Barnes S, Diasio RB: Glycine and taurine conjugation of bile acids by a single enzyme. Molecular cloning and expression of human liver bile acid CoA:amino acid N-acyltransferase. J Biol Chem. 1994 Jul 29;269(30):19375-9. [PubMed ]

1. Nakamura K, Morrison SF: Central efferent pathways mediating skin cooling-evoked sympathetic thermogenesis in brown adipose tissue. Am J Physiol Regul Integr Comp Physiol. 2007 Jan;292(1):R127-36. Epub 2006 Aug 24. [PubMed ]
2. Pellicoro A, van den Heuvel FA, Geuken M, Moshage H, Jansen PL, Faber KN: Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport. Hepatology. 2007 Feb;45(2):340-8. [PubMed ]
3. Styles NA, Falany JL, Barnes S, Falany CN: Quantification and regulation of the subcellular distribution of bile acid coenzyme A:amino acid N-acyltransferase activity in rat liver. J Lipid Res. 2007 Jun;48(6):1305-15. Epub 2007 Mar 22. [PubMed ]
4. Visser WF, van Roermund CW, Ijlst L, Waterham HR, Wanders RJ: Demonstration of bile acid transport across the mammalian peroxisomal membrane. Biochem Biophys Res Commun. 2007 Jun 1;357(2):335-40. Epub 2007 Mar 26. [PubMed ]

1. G-protein coupled receptor 18
2. NAGly receptor

MITLNNQDQPVPFNSSHPDEYKIAALVFYSCIFIIGLFVNITALWVFSCTTKKRTTVTIY
MMNVALVDLIFIMTLPFRMFYYAKDEWPFGEYFCQILGALTVFYPSIALWLLAFISADRY
MAIVQPKYAKELKNTCKAVLACVGVWIMTLTTTTPLLLLYKDPDKDSTPATCLKISDIIY
LKAVNVLNLTRLTFFFLIPLFIMIGCYLVIIHNLLHGRTSKLKPKVKEKSIRIIITLLVQ
VLVCFMPFHICFAFLMLGTGENSYNPWGAFTTFLMNLSTCLDVILYYIVSKQFQARVISV
MLYRNYLRSMRRKSFRSGSLRSLSNINSEML

• 7tm_1 (PF00001 )

• None

• 27-47
• 57-77
• 96-116
• 139-159
• 192-212
• 233-253
• 269-289

• Membrane

ATGATCACCCTGAACAATCAAGATCAACCTGTCACTTTTAACAGCTCACATCCAGATGAA
TACAAAATTGCAGCCCTTGTCTTCTATAGCTGTATCTTCATAATTGGATTATTTGTTAAC
ATCACTGCATTATGGGTTTTCAGTTGTACCACCAAGAAGAGAACCACGGTAACCATCTAT
ATGATGAATGTGGCATTAGTGGACTTGATATTTATAATGACTTTACCCTTTCGAATGTTT
TATTATGCAAAAGATGCATGGCCATTTGGAGAGTACTTCTGCCAGATTATTGGAGCTCTC
ACAGTGTTTTACCCAAGCATTGCTTTATGGCTTCTTGCCTTTATTAGTGCTGACAGATAC
ATGGCCATTGTACAGCCGAAGTACGCCAAAGAACTTAAAAACACGTGCAAAGCCGTGCTG
GCGTGTGTGGGAGTCTGGATAATGACCCTGACCACGACCACCCCTCTGCTACTGCTCTAT
AAAGACCCAGATAAAGACTCCACTCCCGCCACCTGCCTCAAGATTTCTGACATCATCTAT
CTAAAAGCTGTGAACGTGCTGAACCTCACTCGACTGACATTTTTTTTCTTGATTCCTTTG
TTCATCATGATTGGGTGCTACTTGGTCATTATTCATAATCTCCTTCACGGCAGGACGTCT
AAGCTGAAACCCAAAGTCAAGGAGAAGTCCATAAGGATCATCATCACGCTGCTGGTGCAG
GTGCTCGTCTGCTTTATGCCCTTCCACATCTGTTTCGCTTTCCTGATGCTGGGAACGGGG
GAGAACAGTTACAATCCCTGGGGAGCCTTTACCACCTTCCTCATGAACCTCAGCACGTGT
CTGGATGTGATTCTCTACTACATCGTTTCAAAACAATTTCAGGCTCGAGTCATTAGTGTC
ATGCTATACCGTAATTACCTTCGAAGCCTGCGCAGAAAAAGTTTCCGATCTGGTAGTCTA
AGGTCACTAAGCAATATAAACAGTGAAATGTTA

1. Gantz I, Muraoka A, Yang YK, Samuelson LC, Zimmerman EM, Cook H, Yamada T: Cloning and chromosomal localization of a gene (GPR18) encoding a novel seven transmembrane receptor highly expressed in spleen and testis. Genomics. 1997 Jun 15;42(3):462-6. [PubMed ]

1. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
2. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]

1. AAc
2. Acyl-CoA:glycine N- acyltransferase
3. Aralkyl acyl-CoA N-acyltransferase
4. Aralkyl acyl-CoA:amino acid N-acyltransferase
5. EC 2.3.1.13
6. HRP-1(CLP)

MMLPLQGAQMLQMLEKSLRKSLPASLKVYGTVFHINHGNPFNLKAVVDKWPDFNTVVVCP
QEQDMTDDLDHYTNTYQIYSKDPQNCQEFLGSPELINWKQHLQIQSSQPSLNEAIQNLAA
IKSFKVKQTQRILYMAAETAKELTPFLLKSKILSPSGGKPKAINQEMFKLSSMDVTHAHL
VNKFWHFGGNERSQRFIERCIQTFPTCCLLGPEGTPVCWDLMDQTGEMRMAGTLPEYRLH
GLVTYVIYSHAQKLGKLGFPVYSHVDYSNEAMQKMSYTLQHVPIPRSWNQWNCVPL

• acyl-CoA + glycine = CoA + N-acylglycine

• None

• None

• Mitochondrion

ATGTTACCATTGCAAGGTGCCCAGATGCTGCAGATGCTGGAGAAATCCTTGAGGAAGAGC
CTCCCAGCATCCTTAAAGGTTTATGGAACTGTCTTTCACATAAACCATGGAAATCCATTC
AATCTGAAGGCTGTGGTGGACAAGTGGCCTGATTTTAATACAGTGGTTGTCTGCCCTCAG
GAGCAGGATATGACAGATGACCTTGATCACTATACCAATACTTACCAAATCTACTCCAAA
GATCCCCAAAACTGTCAGGAATTCCTTGGATCACCAGAACTCATCAACTGGAAACAGCAT
TTACAGATTCAAAGTTCACAGCCTAGCCTGAATGAGGCTATACAAAATCTTGCAGCCATT
AAGTCCTTCAAAGTCAAACAAACACAACGCATTCTCTATATGGCAGCTGAAACAGCCAAG
GAACTGACTCCTTTCCTGCTGAAATCAAAGATTTTATCTCCCAGTGGTGGCAAACCCAAG
GCCATGTGA

1. Zhou CX, Gao Y: Frequent genetic alterations and reduced expression of the Axin1 gene in oral squamous cell carcinoma: involvement in tumor progression and metastasis. Oncol Rep. 2007 Jan;17(1):73-9. [PubMed ]
2. Narasipura SD, Ren P, Dyavaiah M, Auger I, Chaturvedi V, Chaturvedi S: An efficient method for homologous gene reconstitution in Cryptococcus gattii using URA5 auxotrophic marker. Mycopathologia. 2006 Dec;162(6):401-9. [PubMed ]

1. Acyl- CoA:glycine N-acyltransferase-like protein 2
2. EC 2.3.1.13

MLVLHNSQKLQILYKSLEKSIPESIKVYGAIFNIKDKNPFNMEVLVDAWPDYQIVITRPQ
KQEMKDDQDHYTNTYHIFTKAPDKLEEVLSYSNVISWEQTLQIQGCQEGLDEAIRKVATS
KSVQVDYMKTILFIPELPKKHKTSSNDKMELFEVDDDNKEGNFSNMFLDASHAGLVNEHW
AFGKNERSLKYIERCLQDFLGFGVLGPEGQLVSWIVMEQSCELRMGYTVPKYRHQGNMLQ
IGYHLEKYLSQKEIPFYFHVADNNEKSLQALNNLGFKICPCGWHQWKCTPKKYC

• acyl-CoA + glycine = CoA + N-acylglycine

• Gly_acyl_tr_N (PF06021 )
• Gly_acyl_tr_C (PF08444 )

• None

• None

• Mitochondrion

ATGCTTGTGCTTCATAACTCTCAGAAGCTGCAGATTCTGTATAAATCCTTAGAAAAGAGC
ATCCCTGAATCCATAAAGGTATATGGCGCCATTTTCAACATAAAAGATAAAAACCCTTTC
AACATGGAGGTGCTGGTAGATGCCTGGCCAGATTACCAGATCGTCATTACCCGGCCTCAG
AAACAGGAGATGAAAGATGACCAGGATCATTATACCAACACTTACCACATCTTCACCAAA
GCTCCTGACAAATTAGAGGAAGTCCTGTCATACTCCAATGTAATCAGCTGGGAGCAAACT
TTGCAGATCCAAGGTTGCCAAGAGGGCTTGGATGAAGCAATAAGAAAGGTTGCAACTTCA
AAATCAGTGCAGGTAGATTACATGAAAACCATCCTCTTTATACCGGAATTACCAAAGAAA
CACAAGACCTCAAGTAATGACAAGATGGAGTTATTTGAAGTGGATGATGATAACAAGAAA
GGAAACTTTTCAAACATGTTCTTAGATGCTTCACATGCAGGTCTTGTGAATGAACACTGG
GCCTTTGGGAAAAATGAGAGGAGCTTGAAATATATTGAACGCTGCCTCCAGGATTTTCTA
GGATTTGGCGTGCTGGGTCCAGAGGGCCAGCTTGTCTCTTGGATTGTGATGGAACGGTCC
TGTGAGTTGAGAATGGGTTATACTGTCCCCAAATACAGACACCAAGGCAACATGTTGCAA
ATTGGTTACCATCTTGAAAAGTATCTTTCTCAGAAAGAAATCCCATTTTATTTCCATGTG
GCAGATAATAATGAGAAAAGCCTACAGGCACTGAACAATTTGGGGTTTAAGATTTGTCCC
TGTGGCTGGCATCAGTGGAAATGCACCCCCAAGAAATGTTGTTGA

1. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
2. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]

1. Acyl- CoA:glycine N-acyltransferase-like protein 1
2. EC 2.3.1.13

MILLNNSHKLLALYKSLARSIPESLKVYGSVYHINHGNPFNMEVLVDSWPEYQMVIIRPQ
KQEMTDDMDSYTNVYRMFSKEPQKSEEVLKNCEIVNWKQRLQIQGLQESLGEGIRVATFS
KSVKVEHSRALLLVTEDILKLNASSKSKLGSWAETGHPDDEFESETPNFKYAQLDVSYSG
LVNDNWKRGKNERSLHYIKRCIEDLPAACMLGPEGVPVSWVTMDPSCEVGMAYSMEKYRR
TGNMARVMVRYMKYLRQKNIPFYISVLEENEDSRRFVGQFGFFEASCEWHQWTCYPQNLV
PF

• acyl-CoA + glycine = CoA + N-acylglycine

• Gly_acyl_tr_N (PF06021 )
• Gly_acyl_tr_C (PF08444 )

• None

• None

• Mitochondrion

ATGATCCTACTGAATAACTCCCATAAGCTGCTGGCCCTATACAAATCCTTGGCCAGGAGC
ATCCCTGAGTCCCTGAAGGTGTATGGCTCTGTGTATCACATCAATCACGGGAACCCCTTC
AACATGGAGGTGCTGGTGGATTCCTGGCCTGAATATCAGATGGTTATTATCCGGCCTCAA
AAGCAGGAGATGACTGATGACATGGATTCATACACAAACGTATATCGTATGTTCTCCAAA
GAGCCTCAAAAATCAGAAGAAGTTTTGAAAAATTGTGAGATCGTAAACTGGAAACAGAGA
CTCCAAATCCAAGGTCTTCAAGAAAGTTTAGGTGAGGGGATAAGAGTGGCTACATTTTCA
AAGTCAGTGAAAGTAGAGCATTCGAGAGCACTCCTCTTGGTTACGGAAGATATTCTGAAG
CTCAATGCCTCCAGTAAAAGCAAGCTTGGAAGCTGGGCTGAGACAGGCCACCCAGATGAT
GAATTTGAAAGTGAAACTCCCAACTTTAAGTATGCCCAGCTGGATGTCTCTTATTCTGGG
CTGGTAAATGACAACTGGAAGCGAGGGAAGAATGAGAGGAGCCTGCATTACATCAAGCGC
TGCATAGAAGACCTGCCAGCAGCCTGTATGCTCGGCCCAGAGGGAGTCCCGGTCTCATGG
GTAACCATGGACCCTTCTTGTGAAGTAGGAATGGCCTACAGCATGGAAAAATACCGAAGG
ACAGGCAACATGGCACGAGTGATGGTGCGATACATGAAATATCTGCGTCAGAAGAATATT
CCATTTTACATCTCTGTGTTGGAAGAAAATGAAGACTCCCGCAGATTTGTGGGGCAGTTT
GGTTTCTTTGAGGCCTCCTGTGAGTGGCACCAATGGACTTGCTACCCACAGAATCTAGTT
CCATTTTAG

1. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
2. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]

1. GABA and glycine transporter
2. Solute carrier family 32 member 1
3. Vesicular GABA transporter
4. hVIAAT

MATLLRSKLSNVATSVSNKSQAKMSGMFARMGFQAATDEEAVGFAHCDDLDFEHRQGLQM
DILKAEGEPCGDEGAEAPVEGDIHYQRGSGAPLPPSGSKDQVGGGGEFGGHDKPKITAWE
AGWNVTNAIQGMFVLGLPYAILHGGYLGLFLIIFAAVVCCYTGKILIACLYEENEDGEVV
RVRDSYVAIANACCAPRFPTLGGRVVNVAQIIELVMTCILYVVVSGNLMYNSFPGLPVSQ
KSWSIIATAVLLPCAFLKNLKAVSKFSLLCTLAHFVINILVIAYCLSRARDWAWEKVKFY
IDVKKFPISIGIIVFSYTSQIFLPSLEGNMQQPSEFHCMMNWTHIAACVLKGLFALVAYL
TWADETKEVITDNLPGSIRAVVNIFLVAKALLSYPLPFFAAVEVLEKSLFQEGSRAFFPA
CYSGDGRLKSWGLTLRCALVVFTLLMAIYVPHFALLMGLTGSLTGAGLCFLLPSLFHLRL
LWRKLLWHQVFFDVAIFVIGGICSVSGFVHSLEGLIEAYRTNAED

• Aa_trans (PF01490 )

• None

• 134-154
• 205-225
• 243-263
• 266-286
• 306-326
• 342-362
• 384-404
• 439-459
• 462-482
• 490-510

• Cytoplasmic vesicle

ATGGCCACCTTGCTCCGCAGCAAGCTGTCCAACGTGGCCACGTCCGTGTCCAACAAGTCC
CAGGCCAAGATGAGCGGCATGTTCGCCAGGATGGGTTTTCAGGCGGCCACGGATGAGGAG
GCGGTGGGCTTCGCGCATTGCGACGACCTCGACTTTGAGCACCGCCAGGGCCTGCAGATG
GACATCCTGAAAGCCGAGGGAGAGCCCTGCGGGGACGAGGGCGCTGAAGCGCCCGTCGAG
GGAGACATCCATTATCAGCGAGGCAGCGGAGCTCCTCTGCCGCCCTCCGGCTCCAAGGAC
CAGGTGGGAGGTGGTGGCGAATTCGGGGGCCACGACAAGCCCAAAATCACGGCGTGGGAG
GCAGGCTGGAACGTGACCAACGCCATCCAGGGCATGTTCGTGCTGGGCCTACCCTACGCC
ATCCTGCACGGCGGCTACCTGGGGTTGTTTCTCATCATCTTCGCCGCCGTTGTGTGCTGC
TACACCGGCAAGATCCTCATCGCGTGCCTGTACGAGGAGAATGAAGACGGCGAGGTGGTG
CGCGTGCGGGACTCGTACGTGGCCATAGCCAACGCCTGCTGCGCCCCGCGCTTCCCAACG
CTGGGCGGCCGAGTGGTGAACGTAGCGCAGATCATCGAGCTGGTGATGACGTGCATCCTG
TACGTGGTGGTGAGTGGCAACCTCATGTACAACAGCTTCCCGGGGCTGCCCGTGTCGCAG
AAGTCCTGGTCCATTATCGCCACGGCCGTGCTGCTGCCTTGCGCCTTCCTTAAGAACCTC
AAGGCCGTGTCCAAGTTCAGTCTGCTGTGCACTCTGGCCCACTTCGTCATCAATATCCTG
GTCATAGCCTACTGTCTATCGCGGGCGCGCGACTGGGCCTGGGAGAAGGTCAAGTTCTAC
ATCGACGTCAAGAAGTTCCCCATCTCCATTGGCATCATCGTGTTCAGCTACACGTCTCAG
ATCTTCCTGCCTTCGCTGGAGGGCAATATGCAGCAGCCCAGCGAGTTCCACTGCATGATG
AACTGGACGCACATCGCAGCCTGCGTGCTCAAGGGCCTCTTCGCGCTCGTCGCCTACCTC
ACCTGGGCCGACGAGACCAAGGAGGTCATCACGGATAACCTGCCCGGCTCCATCCGCGCC
GTGGTCAACATCTTTCTGGTGGCCAAGGCGCTGTTGTCCTATCCTCTGCCATTCTTTGCC
GCTGTCGAGGTGCTGGAGAAGTCGCTCTTCCAGGAAGGCAGCCGCGCCTTTTTCCCGGCC
TGCTACAGCGGCGACGGGCGCCTGAAGTCCTGGGGGCTGACGCTGCGCTGCGCGCTCGTC
GTCTTCACGCTGCTCATGGCCATTTATGTGCCGCACTTCGCGCTGCTCATGGGCCTCACC
GGCAGCCTCACGGGCGCCGGCCTCTGTTTCTTGCTGCCCAGCCTCTTTCACCTGCGCCTG
CTCTGGCGCAAGCTGCTGTGGCACCAAGTCTTCTTCGACGTCGCCATCTTCGTCATCGGC
GGCATCTGCAGCGTGTCCGGCTTCGTGCACTCCCTCGAGGGCCTCATCGAAGCCTACCGA
ACCAACGCGGAGGACTAG

1. Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. [PubMed ]
2. Chessler SD, Simonson WT, Sweet IR, Hammerle LP: Expression of the vesicular inhibitory amino acid transporter in pancreatic islet cells: distribution of the transporter within rat islets. Diabetes. 2002 Jun;51(6):1763-71. [PubMed ]
3. Jellali A, Stussi-Garaud C, Gasnier B, Rendon A, Sahel JA, Dreyfus H, Picaud S: Cellular localization of the vesicular inhibitory amino acid transporter in the mouse and human retina. J Comp Neurol. 2002 Jul 15;449(1):76-87. [PubMed ]

1. Fujii M, Arata A, Kanbara-Kume N, Saito K, Yanagawa Y, Obata K: Respiratory activity in brainstem of fetal mice lacking glutamate decarboxylase 65/67 and vesicular GABA transporter. Neuroscience. 2007 May 25;146(3):1044-52. Epub 2007 Apr 5. [PubMed ]
2. Aubrey KR, Rossi FM, Ruivo R, Alboni S, Bellenchi GC, Le Goff A, Gasnier B, Supplisson S: The transporters GlyT2 and VIAAT cooperate to determine the vesicular glycinergic phenotype. J Neurosci. 2007 Jun 6;27(23):6273-81. [PubMed ]
3. Uchigashima M, Fukaya M, Watanabe M, Kamiya H: Evidence against GABA release from glutamatergic mossy fiber terminals in the developing hippocampus. J Neurosci. 2007 Jul 25;27(30):8088-100. [PubMed ]

1. EC 1.5.3.1
2. EC 1.5.3.7
3. L-pipecolate oxidase
4. L-pipecolic acid oxidase
5. PSO

MAAQKDLWDAIVIGAGIQGCFTAYHLAKHRKRILLLEQFFLPHSRGSSHGQSRIIRKAYL
EDFYTRMMHECYQIWAQLEHEAGTQLHRQTGLLLLGMKENQELKTIQANLSRQRVEHQCL
SSEELKQRFPNIRLPRGEVGLLDNSGGVIYAYKALRALQDAIRQLGGIVRDGEKVVEINP
GLLVTVKTTSRSYQAKSLVITAGPWTNQLLRPLGIEMPLQTLRINVCYWREMVPGSYGVS
QAFPCFLWLGLCPHHIYGLPTGEYPGLMKVSYHHGNHADPEERDCPTARTDIGDVQILSS
FVRDHLPDLKPEPAVIESCMYTNTPDEQFILDRHPKYDNIVIGAGFSGHGFKLAPVVGKI
LYELSMKLTPSYDLAPFRISRFPSLGKAHL

• L-pipecolate + O2 = 2,3,4,5-tetrahydropyridine-2-carboxylate + H2O2

• DAO (PF01266 )

• None

• None

• Peroxisome

ATGGCGGCTCAGAAAGATCTCTGGGACGCCATTGTGATTGGGGCGGGGATCCAGGGCTGC
TTCACTGCATACCACCTCGCCAAACACAGGAAGAGGATCCTCCTGCTGGAGCAGTTCTTT
CTACCACACTCCCGAGGAAGCTCCCATGGACAAAGCCGGATAATCCGAAAGGCGTACCTG
GAAGACTTTTACACCCGGATGATGCATGAGTGCTATCAGATATGGGCCCAGCTGGAGCAC
GAGGCTGGAACCCAATTGCACAGGCAGACTGGATTACTGCTGCTGGGAATGAAAGAGAAT
CAAGAATTAAAGACAATCCAGGCCAATCTGTCGAGGCAGAGGGTAGAACACCAGTGTCTT
TCATCTGAGGAACTGAAGCAACGTTTCCCAAATATTCGGTTGCCCAGGGGAGAAGTGGGG
CTCTTGGACAATTCCGGAGGAGTTATCTATGCATATAAGGCCCTCAGAGCCCTGCAGGAT
GCAATTCGACAGCTAGGAGGCATAGTGCGTGACGGAGAGAAGGTGGTGGAGATAAACCCA
GGGCTACTGGTCACGGTGAAAACCACCTCCAGGAGCTACCAAGCTAAGAGCTTGGTCATC
ACAGCAGGTCCTTGGACCAACCAGCTCCTCCGTCCCCTGGGCATTGAGATGCCTCTCCAG
ACCCTGCGGATCAACGTGTGTTACTGGCGAGAGATGGTTCCTGGGAGCTATGGTGTGTCC
CAGGCCTTTCCGTGCTTCCTGTGGCTGGGCTTGTGTCCCCACCACATCTACGGACTGCCC
ACAGGAGAGTACCCAGGGCTGATGAAGGTCAGCTATCACCACGGCAACCACGCAGACCCT
GAGGAGCGGGACTGCCCCACAGCACGCACAGACATCGGAGACGTCCAGATCCTGAGCAGC
TTTGTCAGAGATCACTTACCTGATCTGAAGCCCGAGCCTGCTGTCATTGAGAGCTGCATG
TACACGAATACCCCTGATGAGCAGTTCATTCTCGATCGCCACCCAAAGTATGACAACATT
GTCATTGGTGCTGGATTCTCTGGGCACGGGTTCAAGCTGGCCCCTGTGGTGGGGAAGATC
CTGTATGAATTAAGCATGAAATTAACACCATCTTATGACTTGGCACCTTTTCGAATCAGC
CGTTTCCCAAGCCTGGCCAAAGCCCACCTGTGA

1. Dodt G, Kim DG, Reimann SA, Reuber BE, McCabe K, Gould SJ, Mihalik SJ: L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases. Biochem J. 2000 Feb 1;345 Pt 3:487-94. [PubMed ]
2. Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9543-8. [PubMed ]

1. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed ]
2. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed ]

1. GlyT-2
2. GlyT2
3. Solute carrier family 6 member 5

MDCSAPKEMNKLPANSPEAAAAQGHPDGPCAPRTSPEQELPAAAAPPPPRVPRSASTGAQ
TFQSADARACEAERPGVGSCKLSSPRAQAASAALRDLREAQGAQASPPPGSSGPGNALHC
KIPSLRGPEGDANVSVGKGTLERNNTPVVGWVNMSQSTVVLGTDGITSVLPGSVATVATQ
EDEQGDENKARGNWSSKLDFILSMVGYAVGLGNVWRFPYLAFQNGGGAFLIPYLMMLALA
GLPIFFLEVSLGQFASQGPVSVWKAIPALQGCGIAMLIISVLIAIYYNVIICYTLFYLFA
SFVSVLPWGSCNNPWNTPECKDKTKLLLDSCVISDHPKIQIKNSTFCMTAYPNVTMVNFT
SQANKTFVSGSEEYFKYFVLKISAGIEYPGEIRWPLALCLFLAWVIVYASLAKGIKTSGK
VVYFTATFPYVVLVILLIRGVTLPGAGAGIWYFITPKWEKLTDATVWKDAATQIFFSLSA
AWGGLITLSSYNKFHNNCYRDTLIVTCTNSATSIFAGFVIFSVIGFMANERKVNIENVAD
QGPGIAFVVYPEALTRLPLSPFWAIIFFLMLLTLGLDTMFATIETIVTSISDEFPKYLRT
HKPVFTLGCCICFFIMGFPMITQGGIYMFQLVDTYAASYALVIIAIFELVGISYVYGLQR
FCEDIEMMIGFQPNIFWKVCWAFVTPTILTFILCFSFYQWEPMTYGSYRYPNWSMVLGWL
MLACSVIWIPIMFVIKMHLAPGRFIERLKLVCSPQPDWGPFLAQHRGERYKNMIDPLGTS
SLGLKLPVKDLELGTQC

• SNF (PF00209 )

• None

• 200-220
• 228-247
• 271-291
• 394-412
• 421-438
• 474-491
• 503-524
• 557-576
• 604-622
• 638-658
• 679-698
• 717-735

• Membrane

ATGGATTGCAGTGCTCCCAAGGAAATGAATAAACTGCCAGCCAACAGCCCGGAGGCGGCG
GCGGCGCAGGGCCACCCGGATGGCCCATGCGCTCCCAGGACGAGCCCGGAGCAGGAGCTT
CCCGCGGCTGCCGCCCCGCCGCCGCCACGTGTGCCCAGGTCCGCTTCCACCGGCGCCCAA
ACTTTCCAGTCAGCGGACGCGCGAGCCTGCGAGGCTGAGCGGCCAGGAGTGGGGTCTTGC
AAACTCAGTAGCCCGCGGGCGCAGGCGGCCTCTGCAGCTCTGCGGGACTTGAGAGAGGCG
CAAGGCGCGCAGGCCTCGCCCCCTCCCGGGAGCTCCGGGCCCGGCAACGCGTTGCACTGT
AAGATCCCTTCTCTGCGAGGCCCGGAGGGGGATGCGAACGTGAGTGTGGGCAAGGGCACC
CTGGAGCGGAACAATACCCCTGTTGTGGGCTGGGTGAACATGAGCCAGAGCACCGTGGTG
CTGGGCACGGATGGAATCACGTCCGTGCTCCCGGGCAGCGTGGCCACCGTTGCCACCCAG
GAGGACGAGCAAGGGGATGAGAATAAGGCCCGAGGGAACTGGTCCAGCAAACTGGACTTC
ATCCTGTCCATGGTGGGGTACGCAGTGGGGCTGGGCAATGTCTGGAGGTTTCCCTACCTG
GCCTTCCAGAACGGGGGAGGTGCTTTCCTCATCCCTTACCTGATGATGCTGGCTCTGGCT
GGATTACCCATCTTCTTCTTGGAGGTGTCGCTGGGCCAGTTTGCCAGCCAGGGACCAGTG
TCTGTGTGGAAGGCCATCCCAGCTCTACAAGGCTGTGGCATCGCGATGCTGATCATCTCT
GTCCTAATAGCCATATACTACAATGTGATTATTTGCTATACACTTTTCTACCTGTTTGCC
TCCTTTGTGTCTGTACTACCCTGGGGCTCCTGCAACAACCCTTGGAATACACCAGAATGC
AAAGATAAAACCAAACTTTTATTAGATTCCTGTGTTATCAGTGACCATCCCAAAATACAG
ATCAAGAACTCGACTTTCTGCATGACCGCTTATCCCAACGTGACAATGGTTAATTTCACC
AGCCAGGCCAATAAGACATTTGTCAGTGGAAGTGAAGAGTACTTCAAGTACTTTGTGCTG
AAGATTTCTGCAGGGATTGAATATCCTGGCGAGATCAGGTGGCCACTAGCTCTCTGCCTC
TTCCTGGCTTGGGTCATTGTGTATGCATCGTTGGCTAAAGGAATCAAGACTTCAGGAAAA
GTGGTGTACTTCACGGCCACGTTCCCGTATGTCGTACTCGTGATCCTCCTCATCCGAGGA
GTCACCCTGCCTGGAGCTGGAGCTGGGATCTGGTACTTCATCACACCCAAGTGGGAGAAA
CTCACGGATGCCACGGTGTGGAAAGATGCTGCCACTCAGATTTTCTTCTCTTTATCTGCT
GCATGGGGAGGCCTGATCACTCTCTCTTCTTACAACAAATTCCACAACAACTGCTACAGG
GACACTCTAATTGTCACCTGCACCAACAGTGCCACAAGCATCTTTGCCGGCTTCGTCATC
TTCTCCGTTATCGGCTTCATGGCCAATGAACGCAAAGTCAACATTGAGAATGTGGCAGAC
CAAGGGCCAGGCATTGCATTTGTGGTTTACCCGGAAGCCTTAACCAGGCTGCCTCTCTCT
CCGTTCTGGGCCATCATCTTTTTCCTGATGCTCCTCACTCTTGGACTTGACACTATGTTT
GCCACCATCGAGACCATAGTGACCTCCATCTCAGACGAGTTTCCCAAGTACCTACGCACA
CACAAGCCAGTGTTTACTCTGGGCTGCTGCATTTGTTTCTTCATCATGGGTTTTCCAATG
ATCACTCAGGGTGGAATTTACATGTTTCAGCTTGTGGACACCTATGCTGCCTCCTATGCC
CTTGTCATCATTGCCATTTTTGAGCTCGTGGGGATCTCTTATGTGTATGGCTTGCAAAGA
TTCTGTGAAGATATAGAGATGATGATTGGATTCCAGCCTAACATCTTCTGGAAAGTCTGC
TGGGCATTTGTAACCCCAACCATTTTAACCTTTATCCTTTGCTTCAGCTTTTACCAGTGG
GAGCCCATGACCTATGGCTCTTACCGCTATCCTAACTGGTCCATGGTGCTCGGATGGCTA
ATGCTCGCCTGTTCCGTCATCTGGATCCCAATTATGTTTGTGATAAAAATGCATCTGGCC
CCTGGAAGATTTATTGAGAGGCTGAAGTTGGTGTGCTCGCCACAGCCGGACTGGGGCCCA
TTCTTAGCTCAACACCGCGGGGAGCGTTACAAGAACATGATCGACCCCTTGGGAACCTCT
TCCTTGGGACTCAAACTGCCAGTGAAGGATTTGGAACTGGGCACTCAGTGCTAG

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1. Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H: Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. Biochem Biophys Res Commun. 2006 Sep 22;348(2):400-5. Epub 2006 Jul 26. [PubMed ]