GPHN
entrez
10243
canonical
uniprot
Q9NQX3
canonical
ensembl
ENSG00000171723
resolver
ensp
ENSP00000312771
resolver
ensp
ENSP00000417901
resolver
ensp
ENSP00000573981
resolver
ensp
ENSP00000573985
resolver
ensp
ENSP00000573987
resolver
ensp
ENSP00000630441
resolver
ensp
ENSP00000630446
resolver
genesymbol
GPHN
resolver
genesymbol_syn
GPH
resolver
genesymbol_syn
KIAA1385
resolver
hgnc
HGNC:15465
resolver
uniprot
Q96KU4
resolver
uniprot
Q9H4E9
resolver
uniprot
Q9P2G2
resolver
uniprot_entry
GEPH_HUMAN
resolver
uniprot_sec
Q96KU4
resolver
uniprot_sec
Q9H4E9
resolver
uniprot_sec
Q9P2G2
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by copper and tungsten. {ECO:0000250}.
uniprot
proteins
amino_acid_sequence
MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRLMSMRSANGLLMLPPKTEQYVELHKGEVVDVMVIGRL
uniprot
proteins
disease_involvement
DISEASE: Molybdenum cofactor deficiency, type C (MOCODC) [MIM:615501]: A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. {ECO:0000269|PubMed:11095995, ECO:0000269|PubMed:22040219, ECO:0000269|PubMed:26613940}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.10.1.1
uniprot
proteins
ec_number
2.7.7.75
uniprot
proteins
function
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). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940). {ECO:0000250|UniProtKB:Q03555, ECO:0000269|PubMed:25025157, ECO:0000269|PubMed:26613940}.; FUNCTION: Also has a catalytic activity and 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. {ECO:0000269|PubMed:26613940}.
uniprot
proteins
mass_dalton
79748
uniprot
proteins
mutagenesis
MUTAGEN 212; /note="C->S: Decreased palmitoylation. Decreased clustering at synaptic membranes. Decreased function in gamma-aminobutyric acid receptor clustering. Loss of palmitoylation, decreased clustering at synaptic membranes and loss of function in gamma-aminobutyric acid receptor clustering; when associated with S-284."; /evidence="ECO:0000269|PubMed:25025157"; MUTAGEN 284; /note="C->S: Decreased palmitoylation. Decreased clustering at synaptic membranes. Decreased function in gamma-aminobutyric acid receptor clustering. Loss of palmitoylation, decreased clustering at synaptic membranes and loss of function in gamma-aminobutyric acid receptor clustering; when associated with S-212."; /evidence="ECO:0000269|PubMed:25025157
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; molybdopterin biosynthesis. {ECO:0000269|PubMed:11095995, ECO:0000269|PubMed:22040219, ECO:0000269|PubMed:26613940}.
uniprot
proteins
post_translational_modification
PTM: Palmitoylated (PubMed:25025157). Palmitoylation is stimulated by GABA type A receptors activity (By similarity). Palmitoylation by ZDHHC12 regulates clustering at synapses (PubMed:25025157). {ECO:0000250|UniProtKB:Q8BUV3, ECO:0000269|PubMed:25025157}.
uniprot
proteins
protein_family
MoaB/Mog family; MoeA family
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
10839351
uniprot
proteins
pubmed
11095995
uniprot
proteins
pubmed
11418245
uniprot
proteins
pubmed
11554796
uniprot
proteins
pubmed
12684523
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22040219
uniprot
proteins
pubmed
22270318
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25025157
uniprot
proteins
pubmed
26613940
uniprot
proteins
pubmed
29196314
uniprot
proteins
sequence_length
736
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000269|PubMed:25025157, ECO:0000269|PubMed:26613940}; Lipid-anchor {ECO:0000269|PubMed:25025157}; Cytoplasmic side {ECO:0000305|PubMed:25025157}. Cell membrane {ECO:0000250|UniProtKB:Q03555}; Lipid-anchor {ECO:0000250|UniProtKB:Q03555}; Cytoplasmic side {ECO:0000250|UniProtKB:Q03555}. Cytoplasm, cytosol {ECO:0000269|PubMed:22270318, ECO:0000269|PubMed:25025157}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q03555}. Cell projection, dendrite {ECO:0000269|PubMed:26613940}. Postsynaptic density {ECO:0000250|UniProtKB:Q8BUV3}. Note=Cytoplasmic face of glycinergic postsynaptic membranes (By similarity). Forms clusters at synapses (PubMed:25025157). {ECO:0000250|UniProtKB:Q03555, ECO:0000269|PubMed:25025157}.
uniprot
proteins