Identification |
HMDB Protein ID
| CDBP02142 |
Secondary Accession Numbers
| Not Available |
Name
| Gephyrin |
Description
| Not Available |
Synonyms
|
- Domain E
- Domain G
- MPT Mo-transferase
- MPT adenylyltransferase
- Molybdopterin adenylyltransferase
- 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
|
- Cytoplasm
- Peripheral membrane protein
- Cytoplasmic side
- cytoskeleton
- Cell junction
- Cell junction
- synapse
- synapse
- postsynaptic cell membrane
|
Pathways
|
Name | SMPDB/Pathwhiz | KEGG | molybdopterin biosynthesis | Not Available | Not Available | GABAergic synapse | Not Available | |
|
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
|
External Links |
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 |