GIPC1
entrez
10755
canonical
uniprot
O14908
canonical
ensembl
ENSG00000123159
resolver
ensp
ENSP00000340698
resolver
ensp
ENSP00000376748
resolver
ensp
ENSP00000376753
resolver
ensp
ENSP00000466747
resolver
ensp
ENSP00000467077
resolver
ensp
ENSP00000555980
resolver
genesymbol
GIPC1
resolver
genesymbol_syn
C19orf3
resolver
genesymbol_syn
GIPC
resolver
genesymbol_syn
RGS19IP1
resolver
hgnc
HGNC:1226
resolver
uniprot
A8K2I7
resolver
uniprot
A8K4I3
resolver
uniprot
A8MZG3
resolver
uniprot
Q9BTC9
resolver
uniprot_entry
A8K2I7_HUMAN
resolver
uniprot_entry
GIPC1_HUMAN
resolver
uniprot_sec
A8K4I3
resolver
uniprot_sec
A8MZG3
resolver
uniprot_sec
Q9BTC9
resolver
amino_acid_sequence
MPLGLGRRKKAPPLVENEEAEPGRGGLGVGEPGPLGGGGSGGPQMGLPPPPPALRPRLVFHTQLAHGSPTGRIEGFTNVKELYGKIAEAFRLPTAEVMFCTLNTHKVDMDKLLGGQIGLEDFIFAHVKGQRKEVEVFKSEDALGLTITDNGAGYAFIKRIKEGSVIDHIHLISVGDMIEAINGQSLLGCRHYEVARLLKELPRGRTFTLKLTEPRKAFDMISQRSAGGRPGSGPQLGTGRGTLRLRSRGPATVEDLPSAFEEKAIEKVDDLLESYMGIRDTELAATMVELGKDKRNPDELAEALDERLGDFAFPDEFVFDVWGAIGDAKVGRY
uniprot
proteins
disease_involvement
DISEASE: Oculopharyngodistal myopathy 2 (OPDM2) [MIM:618940]: A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM2 inheritance pattern is autosomal dominant. {ECO:0000269|PubMed:32413282}. Note=The disease may be caused by variants affecting the gene represented in this entry. GGC repeat expansions in the 5'-UTR ranging from 73 to 164 were reported in patients, compared with a normal range from 12 to 32 in unaffected individuals. Patient skeletal muscle showed similar protein levels to those of unaffected individuals. {ECO:0000269|PubMed:32413282}.
uniprot
proteins
function
FUNCTION: May be involved in G protein-linked signaling.
uniprot
proteins
mass_dalton
36049
uniprot
proteins
protein_family
GIPC family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
32413282
uniprot
proteins
pubmed
9482110
uniprot
proteins
pubmed
9770488
uniprot
proteins
sequence_length
333
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:32413282, ECO:0000269|PubMed:9770488}. Membrane {ECO:0000269|PubMed:9770488}; Peripheral membrane protein.
uniprot
proteins