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G protein-coupled receptor 143 (ocular albinism type 1 protein, GPR143, OA1)
Function:
- unknown
- binds heterotrimeric G proteins
Structure: belongs to the G-protein coupled receptor OA family
Compartment:
- melanosome membrane
Expression: exclusively expressed in pigment cell
Pathology:
- mutations in gene associated with:
a) ocular albinism with late-onset sensorineural deafness (OASD)
b) ocular albinism type 1
Related
GPR143 gene mutation
ocular albinism type 1 (OA1); Nettleship-Falls type ocular albinism
ocular albinism with late-onset sensorineural deafness (OASD)
General
glycoprotein
G-protein coupled receptor; serpentine receptor
Properties
SIZE: MW = 44 kD
entity length = 404 aa
COMPARTMENT: cellular membrane
MOTIF: exoplasmic domain {1-28}
transmembrane domain {29-49}
cytoplasmic loop {50-78}
transmembrane domain {79-99}
exoplasmic loop {100-124}
MOTIF: N-glycosylation site {N106}
transmembrane domain {125-145}
cytoplasmic loop {146-149}
transmembrane domain {150-170}
exoplasmic loop {171-191}
transmembrane domain {192-212}
cytoplasmic loop {213-248}
transmembrane domain {249-269}
exoplasmic loop {270-292}
transmembrane domain {293-313}
cytoplasmic domain {314-404}
Database Correlations
OMIM correlations
UniProt P51810
Pfam PF02101
References
UniProt :accession P51810