Galactokinase

Details

Name
Galactokinase
Synonyms
  • 2.7.1.6
  • Galactose kinase
  • GALK
Gene Name
GALK1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0006427|Galactokinase
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELM
TVLVGSPRKDGLVSLLTTSEGADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAA
PLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDSGTIAARAQVCQQAEHSFAGM
PCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDY
RAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASA
APHAMRHIQEHYGGTATFYLSQAADGAKVLCL
Number of residues
392
Molecular Weight
42271.805
Theoretical pI
6.42
GO Classification
Functions
ATP binding / galactokinase activity / galactose binding
Processes
carbohydrate metabolic process / galactitol metabolic process / galactose catabolic process / galactose metabolic process / small molecule metabolic process
Components
cytoplasm / cytosol / extracellular exosome / membrane
General Function
Galactose binding
Specific Function
Major enzyme for galactose metabolism.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Not Available
Gene sequence
>lcl|BSEQ0012302|Galactokinase (GALK1)
ATGGCTGCTTTGAGACAGCCCCAGGTCGCGGAGCTGCTGGCCGAGGCCCGGCGAGCCTTC
CGGGAGGAGTTCGGGGCCGAGCCCGAGCTGGCCGTGTCAGCGCCGGGCCGCGTCAACCTC
ATCGGGGAACACACGGACTACAACCAGGGCCTGGTGCTGCCTATGGCTCTGGAGCTCATG
ACGGTGCTGGTGGGCAGCCCCCGCAAGGATGGGCTGGTGTCTCTCCTCACCACCTCTGAG
GGTGCCGATGAGCCCCAGCGGCTGCAGTTTCCACTGCCCACAGCCCAGCGCTCGCTGGAG
CCTGGGACTCCTCGGTGGGCCAACTATGTCAAGGGAGTGATTCAGTACTACCCAGCTGCC
CCCCTCCCTGGCTTCAGTGCAGTGGTGGTCAGCTCAGTGCCCCTGGGGGGTGGCCTGTCC
AGCTCAGCATCCTTGGAAGTGGCCACGTACACCTTCCTCCAGCAGCTCTGTCCAGACTCG
GGCACAATAGCTGCCCGCGCCCAGGTGTGTCAGCAGGCCGAGCACAGCTTCGCAGGGATG
CCCTGTGGCATCATGGACCAGTTCATCTCACTTATGGGACAGAAAGGCCACGCGCTGCTC
ATTGACTGCAGGTCCTTGGAGACCAGCCTGGTGCCACTCTCGGACCCCAAGCTGGCCGTG
CTCATCACCAACTCTAATGTCCGCCACTCCCTGGCCTCCAGCGAGTACCCTGTGCGGCGG
CGCCAATGTGAAGAAGTGGCCCGGGCGCTGGGCAAGGAAAGCCTCCGGGAGGTACAACTG
GAAGAGCTAGAGGCTGCCAGGGACCTGGTGAGCAAAGAGGGCTTCCGGCGGGCCCGGCAC
GTGGTGGGGGAGATTCGGCGCACGGCCCAGGCAGCGGCCGCCCTGAGACGTGGCGACTAC
AGAGCCTTTGGCCGCCTCATGGTGGAGAGCCACCGCTCACTCAGAGACGACTATGAGGTG
AGCTGCCCAGAGCTGGACCAGCTGGTGGAGGCTGCGCTTGCTGTGCCTGGGGTTTATGGC
AGCCGCATGACGGGCGGTGGCTTCGGTGGCTGCACGGTGACACTGCTGGAGGCCTCCGCT
GCTCCCCACGCCATGCGGCACATCCAGGAGCACTACGGCGGGACTGCCACCTTCTACCTC
TCTCAAGCAGCCGATGGAGCCAAGGTGCTGTGCTTGTGA
Chromosome Location
17
Locus
17q24
External Identifiers
ResourceLink
UniProtKB IDP51570
UniProtKB Entry NameGALK1_HUMAN
GenBank Gene IDU26401
GenAtlas IDGALK1
HGNC IDHGNC:4118
General References
  1. Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ: Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet. 1995 Jul;10(3):307-12. [Article]
  2. Bergsma DJ, Ai Y, Skach WR, Nesburn K, Anoia E, Van Horn S, Stambolian D: Fine structure of the human galactokinase GALK1 gene. Genome Res. 1996 Oct;6(10):980-5. [Article]
  3. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
  4. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20;440(7087):1045-9. [Article]
  5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  6. Ai Y, Basu M, Bergsma DJ, Stambolian D: Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2. Biochem Biophys Res Commun. 1995 Jul 17;212(2):687-91. [Article]
  7. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [Article]
  8. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [Article]
  9. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [Article]
  10. Thoden JB, Timson DJ, Reece RJ, Holden HM: Molecular structure of human galactokinase: implications for type II galactosemia. J Biol Chem. 2005 Mar 11;280(10):9662-70. Epub 2004 Dec 7. [Article]
  11. Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R: A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet. 1999 Nov;65(5):1299-307. [Article]
  12. Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D: Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat. 2000;15(5):447-53. [Article]
  13. Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T: A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians. Am J Hum Genet. 2001 Apr;68(4):1036-42. Epub 2001 Feb 23. [Article]
  14. Hunter M, Angelicheva D, Levy HL, Pueschel SM, Kalaydjieva L: Novel mutations in the GALK1 gene in patients with galactokinase deficiency. Hum Mutat. 2001;17(1):77-8. [Article]
  15. Timson DJ, Reece RJ: Functional analysis of disease-causing mutations in human galactokinase. Eur J Biochem. 2003 Apr;270(8):1767-74. [Article]
  16. Maraini G, Hejtmancik JF, Shiels A, Mackay DS, Aldigeri R, Jiao XD, Williams SL, Sperduto RD, Reed G: Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. Mol Vis. 2003 Aug 26;9:397-400. [Article]
  17. Sangiuolo F, Magnani M, Stambolian D, Novelli G: Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004 Apr;23(4):396. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB04395Phosphoaminophosphonic Acid-Adenylate EsterexperimentalunknownDetails