Gephyrin
Details
- Name
- Gephyrin
- Synonyms
- GPH
- KIAA1385
- Gene Name
- GPHN
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0005202|Gephyrin MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVP DEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSL NVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVH DELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAAAI AAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENIL RASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVY AKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCG ADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPS EIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYP TINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVF MKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKAR LSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRLMSMRSANGLLMLPPKTEQYV ELHKGEVVDVMVIGRL
- Number of residues
- 736
- Molecular Weight
- 79747.635
- Theoretical pI
- 5.09
- GO Classification
- FunctionsATP binding / metal ion binding / molybdopterin adenylyltransferase activity / molybdopterin molybdotransferase activityProcessesestablishment of synaptic specificity at neuromuscular junction / glycine receptor clustering / Mo-molybdopterin cofactor biosynthetic process / molybdenum incorporation into molybdenum-molybdopterin complex / molybdopterin cofactor biosynthetic process / small molecule metabolic process / vitamin metabolic process / water-soluble vitamin metabolic processComponentscell junction / cytoplasm / cytoskeleton / plasma membrane / postsynaptic membrane
- General Function
- Molybdopterin molybdotransferase activity
- Specific Function
- Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.
- Pfam Domain Function
- Transmembrane Regions
- Not Available
- Cellular Location
- Cell junction
- Gene sequence
>lcl|BSEQ0021679|Gephyrin (GPHN) ATGGCGACCGAGGGAATGATCCTTACTAACCACGACCATCAAATCCGTGTCGGAGTCCTT ACAGTGAGTGATAGTTGCTTCAGGAATCTTGCAGAAGACCGCAGTGGGATAAATCTCAAA GATCTCGTACAAGATCCTTCTTTGTTGGGTGGGACTATATCAGCATACAAGATAGTACCA GATGAAATAGAAGAAATCAAGGAAACCCTGATAGATTGGTGTGATGAAAAGGAACTTAAT TTGATATTAACAACTGGAGGAACAGGATTTGCACCACGAGATGTCACTCCAGAGGCCACA AAAGAAGTAATAGAACGGGAAGCACCAGGGATGGCCCTGGCAATGCTGATGGGATCACTT AATGTTACACCTCTGGGCATGCTCTCTAGGCCTGTATGTGGAATCAGAGGGAAAACGCTC ATAATTAACCTGCCAGGTAGCAAGAAAGGATCTCAGGAATGCTTTCAATTCATACTGCCA GCTCTACCTCATGCCATTGACCTTTTACGTGATGCCATTGTAAAAGTAAAGGAGGTGCAT GATGAACTTGAAGATTTGCCTTCCCCACCTCCCCCTCTTTCCCCTCCTCCTACTACCAGC CCCCATAAACAGACAGAAGACAAAGGAGTTCAATGTGAGGAAGAGGAAGAAGAGAAGAAA GACAGTGGTGTTGCTTCAACAGAAGATAGTTCCTCATCACATATAACTGCAGCAGCCATT GCTGCCAAGATTCCAGACTCCATCATTTCTCGTGGTGTTCAGGTGCTCCCACGAGACACA GCCTCCCTCAGCACTACTCCTTCAGAATCGCCTCGTGCTCAGGCTACATCTCGCCTCTCT ACAGCTTCCTGCCCAACACCAAAAGTCCAGTCCAGGTGCAGCAGCAAGGAGAACATTCTC AGAGCCAGTCACAGTGCTGTCGATATCACCAAGGTGGCTAGAAGACATCGCATGTCTCCT TTTCCTCTGACATCTATGGACAAAGCCTTTATCACAGTCCTGGAGATGACTCCGGTGCTT GGGACAGAAATCATCAATTACCGAGATGGAATGGGGCGAGTCCTTGCTCAAGATGTATAT GCAAAAGACAATTTACCCCCCTTCCCAGCATCAGTAAAAGATGGCTATGCTGTCCGAGCT GCTGATGGCCCAGGAGATCGTTTCATCATTGGGGAATCCCAAGCTGGTGAACAGCCAACT CAGACAGTAATGCCAGGACAAGTCATGCGGGTTACAACAGGTGCTCCAATACCCTGCGGT GCTGATGCAGTAGTACAAGTGGAAGATACCGAACTTATCAGGGAATCAGATGATGGCACT GAAGAACTTGAAGTGCGAATTCTGGTGCAAGCTCGGCCAGGCCAAGATATCAGACCCATC GGCCATGACATTAAAAGAGGGGAATGTGTTTTGGCCAAAGGAACCCACATGGGCCCCTCA GAGATTGGTCTTCTGGCAACTGTAGGTGTCACAGAGGTTGAAGTTAATAAGTTTCCAGTG GTTGCAGTCATGTCAACAGGGAATGAGCTGCTAAATCCTGAAGATGACCTCTTACCAGGG AAGATTCGAGACAGCAATCGTTCAACTCTTCTAGCAACAATTCAGGAACATGGTTACCCC ACGATCAACTTGGGTATTGTAGGAGACAACCCAGATGACTTACTCAATGCCTTGAATGAG GGTATCAGTCGTGCTGATGTCATCATCACATCAGGGGGTGTATCCATGGGGGAAAAGGAC TATCTCAAGCAGGTGCTGGACATTGATCTTCATGCTCAGATCCATTTTGGCAGGGTTTTT ATGAAACCAGGCTTGCCAACAACATTTGCAACTTTGGATATTGATGGTGTAAGAAAAATA ATCTTTGCACTACCTGGGAATCCTGTATCGGCTGTGGTCACCTGCAATCTCTTTGTTGTG CCTGCACTGAGGAAAATGCAGGGCATCTTGGATCCTCGGCCAACCATCATCAAAGCAAGG TTATCATGTGATGTAAAACTTGATCCTCGTCCAGAATACCATCGGTGTATACTAACTTGG CATCACCAAGAACCACTACCTTGGGCACAGAGTACAGGTAATCAAATGAGCAGCCGTCTG ATGAGCATGCGCAGTGCCAATGGATTGTTGATGCTACCTCCAAAGACAGAACAGTACGTG GAGCTCCACAAAGGCGAGGTGGTGGATGTCATGGTCATTGGACGGCTATGA
- Chromosome Location
- 14
- Locus
- 14q23.3
- External Identifiers
Resource Link UniProtKB ID Q9NQX3 UniProtKB Entry Name GEPH_HUMAN GenBank Gene ID AF272663 GenAtlas ID GPHN HGNC ID HGNC:15465 - General References
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- Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG: Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. J Biol Chem. 2003 Jul 4;278(27):24688-96. Epub 2003 Apr 8. [Article]
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