GIPC3
entrez
126326
canonical
uniprot
Q8TF64
canonical
ensembl
ENSG00000179855
resolver
ensp
ENSP00000493901
resolver
ensp
ENSP00000495068
resolver
enst
ENST00000644452
resolver
enst
ENST00000644946
resolver
genesymbol
GIPC3
resolver
genesymbol_syn
C19orf64
resolver
hgnc
HGNC:18183
resolver
uniprot
A0A2R8Y651
resolver
uniprot
O75227
resolver
uniprot_entry
A0A2R8Y651_HUMAN
resolver
uniprot_entry
GIPC3_HUMAN
resolver
uniprot_sec
O75227
resolver
amino_acid_sequence
MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRELYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSGRETLRLRSGGAATVEEAPSEFEEEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFARCLDSVLGEFAFPDEFVVEVWAAIGEAREACG
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]: A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:21326233, ECO:0000269|PubMed:21660509}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion. {ECO:0000250}.
uniprot
proteins
mass_dalton
33982
uniprot
proteins
protein_family
GIPC family
uniprot
proteins
pubmed
11836571
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21326233
uniprot
proteins
pubmed
21660509
uniprot
proteins
sequence_length
312
uniprot
proteins