InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GPR143

Summary

InnateDB Protein

IDBP-484952.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GPR143

Protein Name

G protein-coupled receptor 143

Synonyms

NYS6; OA1;

Species

Homo sapiens

Ensembl Protein

ENSP00000417161

InnateDB Gene

IDBG-42590 (GPR143)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:10471510, ECO:0000269PubMed:16524428, ECO:0000269PubMed:18697795, ECO:0000269PubMed:18828673, ECO:0000269PubMed:19717472}.

Subcellular Localization

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.

Disease Associations

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:0000269PubMed:11214907, ECO:0000269PubMed:16646960, ECO:0000269PubMed:17822861, ECO:0000269PubMed:17960122, ECO:0000269PubMed:18978956, ECO:0000269PubMed:8634705, ECO:0000269PubMed:9529334, ECO:0000269PubMed:9887374}. Note=The disease is caused by mutations affecting the gene represented in this entry.Nystagmus congenital X-linked 6 (NYS6) [MIM:300814]: 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:0000269PubMed:17516023}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:18828673, ECO:0000269PubMed:7647783}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004930	G-protein coupled receptor activity
GO:0005515	protein binding
GO:0035240	dopamine binding
GO:0035643	L-DOPA receptor activity
GO:0072544	L-DOPA binding
GO:0072545	tyrosine binding

Biological Process

GO:0006726	eye pigment biosynthetic process
GO:0007165	signal transduction
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007218	neuropeptide signaling pathway
GO:0007601	visual perception
GO:0032400	melanosome localization
GO:0032402	melanosome transport
GO:0032438	melanosome organization
GO:0035584	calcium-mediated signaling using intracellular calcium source
GO:0048015	phosphatidylinositol-mediated signaling
GO:0050848	regulation of calcium-mediated signaling

Cellular Component

GO:0005737	cytoplasm
GO:0005765	lysosomal membrane
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0033162	melanosome membrane
GO:0042470	melanosome