Identification
HMDB Protein ID CDBP02142
Secondary Accession Numbers Not Available
Name Gephyrin
Description Not Available
Synonyms
  1. Domain E
  2. Domain G
  3. MPT Mo-transferase
  4. MPT adenylyltransferase
  5. Molybdopterin adenylyltransferase
  6. Molybdopterin molybdenumtransferase
Gene Name GPHN
Protein Type Metal Binding
Biological Properties
General Function Involved in Mo-molybdopterin cofactor biosynthetic process
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.
GO Classification
Biological Process
molybdopterin cofactor biosynthetic process
water-soluble vitamin metabolic process
establishment of synaptic specificity at neuromuscular junction
Mo-molybdopterin cofactor biosynthetic process
Cellular Component
cytoskeleton
cytoplasm
plasma membrane
cell junction
postsynaptic membrane
Molecular Function
transferase activity
metal ion binding
ATP binding
Process
cellular metabolic process
biosynthetic process
cellular biosynthetic process
heterocycle biosynthetic process
pteridine and derivative biosynthetic process
cofactor metabolic process
coenzyme metabolic process
mo-molybdopterin cofactor biosynthetic process
metabolic process
coenzyme biosynthetic process
molybdopterin cofactor biosynthetic process
Cellular Location
  1. Cytoplasm
  2. Peripheral membrane protein
  3. Cytoplasmic side
  4. cytoskeleton
  5. Cell junction
  6. Cell junction
  7. synapse
  8. synapse
  9. postsynaptic cell membrane
Pathways
Gene Properties
Chromosome Location 14
Locus 14q23.3
SNPs GPHN
Gene Sequence
>2211 bp
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
Protein Properties
Number of Residues 736
Molecular Weight 79747.635
Theoretical pI 5.431
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Gephyrin
MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVP
DEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSL
NVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVH
DELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAAAI
AAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENIL
RASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVY
AKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCG
ADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPS
EIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYP
TINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVF
MKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKAR
LSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRLMSMRSANGLLMLPPKTEQYV
ELHKGEVVDVMVIGRL
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q9NQX3
UniProtKB/Swiss-Prot Entry Name GEPH_HUMAN
PDB IDs
GenBank Gene ID AF272663
GeneCard ID GPHN
GenAtlas ID GPHN
HGNC ID HGNC:15465
References
General References Not Available