Gipc3
entrez
209047
canonical
uniprot
Q8R5M0
canonical
ensembl
ENSMUSG00000034872
resolver
ensp
ENSMUSP00000049236
resolver
enst
ENSMUST00000045102
resolver
genesymbol
Gipc3
resolver
genesymbol_syn
Rgs19ip3
resolver
uniprot_entry
GIPC3_MOUSE
resolver
amino_acid_sequence
MDSAAPREPGATEPPARARPRLVFRTQLAHGSPTGRIEGFTNVRELYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPRRAFDMIGQRSRSSKCPVEAKVSSGRETLRLRSGGAATVEEAPSDVEAAAARRVDDLLESYMGIRDPELAAAVVETARSSAGAQAFARGLDAVLGEFAFPDEFVVEVWAAIGEAHDACG
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in GIPC3 underlie the age-related hearing loss 5 (ahl5) and juvenile audiogenic monogenic seizure (jams1) phenotypes. Ahl5 mice show irregular structure of the stereocilia bundle of outer and inner hair cells, late-onset degeneration of the organ of Corti. The spiral ganglion exhibits a severe loss of neurons. {ECO:0000269|PubMed:21326233}.
uniprot
proteins
function
FUNCTION: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion. {ECO:0000269|PubMed:21326233}.
uniprot
proteins
mass_dalton
32108
uniprot
proteins
protein_family
GIPC family
uniprot
proteins
pubmed
11836631
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21326233
uniprot
proteins
sequence_length
297
uniprot
proteins