GPR143

GPR143
Identifiers
AliasesGPR143, NYS6, OA1, G protein-coupled receptor 143
External IDsOMIM: 300808; MGI: 107193; HomoloGene: 230; GeneCards: GPR143; OMA:GPR143 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

4935

18241

Ensembl

n/a

ENSMUSG00000025333

UniProt

P51810

P70259

RefSeq (mRNA)

NM_000273

NM_010951

RefSeq (protein)

NP_000264

NP_035081

Location (UCSC)n/aChr X: 151.56 – 151.59 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse
Ocular albinism type 1 protein
Identifiers
SymbolOcular_alb
PfamPF02101
Pfam clanCL0192
InterProIPR001414
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary

G-protein coupled receptor 143, also known as Ocular albinism type 1 (OA1) in humans, is a conserved integral membrane protein with seven transmembrane domains and similarities with G protein-coupled receptors (GPCRs) that is expressed in the eye and epidermal melanocytes.[4][5][6] This protein encoded by the GPR143 gene,[7][8] whose variants can lead to Ocular albinism type 1.[9]

The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.[10][11]

L-DOPA is an endogenous ligand for OA1.[12]

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025333 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Entrez Gene: GPR143 G protein-coupled receptor 143".
  5. ^ Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, et al. (November 2008). "The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells". Human Molecular Genetics. 17 (22): 3487–3501. doi:10.1093/hmg/ddn241. PMC 2572695. PMID 18697795.
  6. ^ Innamorati G, Piccirillo R, Bagnato P, Palmisano I, Schiaffino MV (April 2006). "The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor". Pigment Cell Research. 19 (2): 125–135. doi:10.1111/j.1600-0749.2006.00292.x. PMC 1459912. PMID 16524428.
  7. ^ Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, et al. (May 1995). "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome". Nature Genetics. 10 (1): 13–19. doi:10.1038/ng0595-13. PMID 7647783. S2CID 205342065.
  8. ^ Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, et al. (September 1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics. 23 (1): 108–112. doi:10.1038/12715. PMID 10471510. S2CID 6604295.
  9. ^ Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, et al. (September 1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics. 23 (1): 108–112. doi:10.1038/12715. PMID 10471510. S2CID 6604295.
  10. ^ Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, et al. (August 2004). "The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis". Molecular and Cellular Biology. 24 (15): 6550–6559. doi:10.1128/MCB.24.15.6550-6559.2004. PMC 444869. PMID 15254223.
  11. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, et al. (December 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–676. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.
  12. ^ Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh GS (ed.). "L-DOPA is an endogenous ligand for OA1". PLOS Biology. 6 (9): e236. doi:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673.