Aliases for GPR143 Gene
External Ids for GPR143 Gene
Previous HGNC Symbols for GPR143 Gene
Previous GeneCards Identifiers for GPR143 Gene
This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]
GeneCards Summary for GPR143 Gene
GPR143 (G Protein-Coupled Receptor 143) is a Protein Coding gene. Diseases associated with GPR143 include Ocular Albinism, Type I, Nettleship-Falls Type and Nystagmus 6, Congenital, X-Linked. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and tyrosine binding.
UniProtKB/Swiss-Prot for GPR143 Gene
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.