9.A.14.20.1 The Ocular albinism type 1 gene product, OA1, or G-protein coupled receptor 143 (GPR143) of 404 aas and 7 established TMSs (Sone and Orlow 2007). OA1 (GPR143) is a pigment cell-specific intracellular glycoprotein that is mutated in patients with ocular albinism type 1, the most common form of ocular
albinism. Its cellular localization appears to be endolysosomal and melanosomal. It is a receptor for tyrosine, L-DOPA and dopamine. Binding of L-DOPA stimulates Ca2+ 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. It also plays a role as an
intracellular G protein-coupled receptor involved in melanosome
biogenesis, organization and transport (Palmisano et al. 2008; Giordano et al. 2009).
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Accession Number: | P51810 |
Protein Name: | G-protein coupled receptor 143 |
Length: | 404 |
Molecular Weight: | 43878.00 |
Species: | Homo sapiens (Human) [9606] |
Number of TMSs: | 6 |
Location1 / Topology2 / Orientation3: |
Melanosome membrane1 / Multi-pass membrane protein2 |
Substrate |
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1: MASPRLGTFC CPTRDAATQL VLSFQPRAFH ALCLGSGGLR LALGLLQLLP GRRPAGPGSP
61: ATSPPASVRI LRAAAACDLL GCLGMVIRST VWLGFPNFVD SVSDMNHTEI WPAAFCVGSA
121: MWIQLLYSAC FWWLFCYAVD AYLVIRRSAG LSTILLYHIM AWGLATLLCV EGAAMLYYPS
181: VSRCERGLDH AIPHYVTMYL PLLLVLVANP ILFQKTVTAV ASLLKGRQGI YTENERRMGA
241: VIKIRFFKIM LVLIICWLSN IINESLLFYL EMQTDINGGS LKPVRTAAKT TWFIMGILNP
301: AQGFLLSLAF YGWTGCSLGF QSPRKEIQWE SLTTSAAEGA HPSPLMPHEN PASGKVSQVG
361: GQTSDEALSM LSEGSDASTI EIHTASESCN KNEGDPALPT HGDL