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.
Protein type: GPCR, OA family; Membrane protein, integral; Membrane protein, multi-pass; Receptor, GPCR
Cellular Component: Golgi apparatus; membrane; cell; lysosome; lysosomal membrane; melanosome membrane; apical plasma membrane; melanosome; integral to membrane; plasma membrane
Molecular Function: G-protein coupled receptor activity; signal transducer activity; dopamine binding
Biological Process: G-protein coupled receptor protein signaling pathway; synaptic transmission; phosphoinositide-mediated signaling; neuropeptide signaling pathway; melanosome organization and biogenesis; melanosome localization; regulation of calcium-mediated signaling; signal transduction; melanosome transport
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