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GPR143 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. Defects in GPR143 are the cause of albinism ocular type 1 (OA1); 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. Defects in GPR143 are the cause of Nystagmus congenital X-linked type 6 (NYS6). 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. Belongs to the G-protein coupled receptor OA family. Note: This description may include information from UniProtKB.
Protein type: GPCR, OA family; Membrane protein, integral; Membrane protein, multi-pass; Receptor, GPCR
Chromosomal Location of Human Ortholog: Xp22.2
Cellular Component: apical plasma membrane; cytoplasm; Golgi apparatus; integral component of membrane; lysosomal membrane; melanosome; melanosome membrane; membrane; plasma membrane
Molecular Function: dopamine binding; G-protein coupled receptor activity; protein binding
Biological Process: eye pigment biosynthetic process; G-protein coupled receptor signaling pathway; melanosome localization; melanosome organization; melanosome transport; neuropeptide signaling pathway; phosphoinositide-mediated signaling; regulation of calcium-mediated signaling; signal transduction; visual perception
Disease: Albinism, Ocular, Type I; Nystagmus 6, Congenital, X-linked
Reference #:  P51810 (UniProtKB)
Alt. Names/Synonyms: G protein-coupled receptor 143; G-protein coupled receptor 143; GP143; GPR143; OA1; Ocular albinism type 1 protein
Gene Symbols: GPR143
Molecular weight: 43,878 Da
Basal Isoelectric point: 7.53  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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