ID:GP143_HUMAN DESCRIPTION: RecName: Full=G-protein coupled receptor 143; AltName: Full=Ocular albinism type 1 protein; 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. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport. SUBUNIT: Interacts with heterotrimeric G(i) proteins. Interacts with ARRB1 and ARRB2. Interacts with MLANA. INTERACTION: Q16655:MLANA; NbExp=1; IntAct=EBI-2509708, EBI-2509726; SUBCELLULAR LOCATION: Golgi apparatus. Melanosome membrane; Multi- pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. 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. TISSUE SPECIFICITY: Expressed at high levels in the retina, including the retinal pigment epithelium (RPE), and in melanocytes. Weak expression is observed in brain and adrenal gland. DOMAIN: The cytoplasmic domain 3 and the C-terminus tail domain contain the lysosomal sorting signals and are necessary and sufficient for intracellular retention and delivery to lysosomal and melanosomal, respectively in melanocytic and non-melanocytic cells. PTM: Glycosylated. PTM: Phosphorylated. DISEASE: Defects in GPR143 are the cause of albinism ocular type 1 (OA1) [MIM:300500]; also known as Nettleship-Falls type ocular albinism. 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. DISEASE: Defects in GPR143 are the cause of Nystagmus congenital X-linked type 6 (NYS6) [MIM:300814]. It is 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. SIMILARITY: Belongs to the G-protein coupled receptor OA family. SEQUENCE CAUTION: Sequence=AAH68977.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA88742.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAW98773.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=Mutations of the OA1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/oa1mut.htm"; WEB RESOURCE: Name=Albinism database (ADB); Note=GPR143 mutations; URL="http://albinismdb.med.umn.edu/oa1mut.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GPR143";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00002 - 7 transmembrane receptor (Secretin family) PF02101 - Ocular albinism type 1 protein
SCOP Domains: 81321 - Family A G protein-coupled receptor-like
ModBase Predicted Comparative 3D Structure on P51810
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
