GPR143
entrez
4935
canonical
uniprot
P51810
canonical
ensembl
ENSG00000101850
resolver
ensp
ENSP00000390546
resolver
ensp
ENSP00000417161
resolver
ensp
ENSP00000713840
resolver
enst
ENST00000467482
resolver
genesymbol
GPR143
resolver
genesymbol_syn
OA1
resolver
hgnc
HGNC:20145
resolver
uniprot
Q6NTI7
resolver
uniprot_entry
GP143_HUMAN
resolver
uniprot_sec
Q6NTI7
resolver
amino_acid_sequence
MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSPATSPPASVRILRAAAACDLLGCLGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIMAWGLATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVASLLKGRQGIYTENERRMGAVIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNPAQGFLLSLAFYGWTGCSLGFQSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPTHGDL
uniprot
proteins
disease_involvement
DISEASE: Albinism ocular 1 (OA1) [MIM:300500]: Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented. {ECO:0000269|PubMed:11115845, ECO:0000269|PubMed:11214907, ECO:0000269|PubMed:16524428, ECO:0000269|PubMed:16621890, ECO:0000269|PubMed:16646960, ECO:0000269|PubMed:17822861, ECO:0000269|PubMed:17960122, ECO:0000269|PubMed:18697795, ECO:0000269|PubMed:18978956, ECO:0000269|PubMed:8634705, ECO:0000269|PubMed:9529334, ECO:0000269|PubMed:9887374}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Nystagmus 6, congenital, X-linked (NYS6) [MIM:300814]: A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. {ECO:0000269|PubMed:17516023}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Also plays a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport. {ECO:0000269|PubMed:10471510, ECO:0000269|PubMed:16524428, ECO:0000269|PubMed:18697795, ECO:0000269|PubMed:18828673, ECO:0000269|PubMed:19717472}.
uniprot
proteins
mass_dalton
43878
uniprot
proteins
mutagenesis
MUTAGEN 223..224; /note="LL->AA: Delivered to both at the cell surface and in vesicles of melanocytic and non-melanocytic cells. Strongly delivered at the cell surface of melanocytic and non-melanocytic cells; when associated with 329-A-A-330."; MUTAGEN 329..330; /note="WE->AA: Mostly delivered at the cell surface of melanocytic and non-melanocytic cells. Strongly delivered at the cell surface of melanocytic and non-melanocytic cells; when associated with 224-A-A-225."; /evidence="ECO:0000269|PubMed:16621890
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:11115845}.; PTM: Phosphorylated. {ECO:0000269|PubMed:16524428}.
uniprot
proteins
protein_family
G protein-coupled receptor OA family
uniprot
proteins
pubmed
10094567
uniprot
proteins
pubmed
10471510
uniprot
proteins
pubmed
11115845
uniprot
proteins
pubmed
11214907
uniprot
proteins
pubmed
11793467
uniprot
proteins
pubmed
12643545
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16524428
uniprot
proteins
pubmed
16621890
uniprot
proteins
pubmed
16646960
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
17516023
uniprot
proteins
pubmed
17822861
uniprot
proteins
pubmed
17960122
uniprot
proteins
pubmed
18697795
uniprot
proteins
pubmed
18828673
uniprot
proteins
pubmed
18978956
uniprot
proteins
pubmed
19717472
uniprot
proteins
pubmed
7647783
uniprot
proteins
pubmed
8634705
uniprot
proteins
pubmed
9529334
uniprot
proteins
pubmed
9887374
uniprot
proteins
sequence_length
404
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Melanosome membrane {ECO:0000269|PubMed:10471510, ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:16524428, ECO:0000269|PubMed:16621890, ECO:0000269|PubMed:17081065}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:16524428, ECO:0000269|PubMed:16621890}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000269|PubMed:18828673}; Multi-pass membrane protein {ECO:0000255}. Note=Distributed throughout the endo-melanosomal system but most of endogenous protein is localized in unpigmented stage II melanosomes. Its expression on the apical cell membrane is sensitive to tyrosine (PubMed:18828673). {ECO:0000269|PubMed:18828673}.
uniprot
proteins
transmembrane_region
TRANSMEM 29..49; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 79..99; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 125..145; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 150..170; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 192..212; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 249..269; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 293..313; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins