GPR143

GPR143
Identifiers
AliasesGPR143, NYS6, OA1, G protein-coupled receptor 143
External IDsOMIM: 300808; MGI: 107193; GeneCards: GPR143
Orthologs
DatabasesNCBI: entry
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
Wikidata
View/Edit HumanView/Edit Mouse
Ocular albinism type 1 protein
Identifiers
SymbolOcular_alb
PfamPF02101
Pfam clanCL0192
InterProIPR001414
Available protein structures:
PDB  IPR001414 PF02101 (ECOD; PDBsum)  
AlphaFold

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. This protein encoded by the GPR143 gene, whose variants can lead to Ocular albinism type 1.

The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.

L-DOPA is an endogenous ligand for OA1.

Interactions

GPR143 has been shown to interact with GNAI1.

References

  1. 1 2 3 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. 1 2 3 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. hdl:11380/451153. PMID 10471510. S2CID 6604295.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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.

Further reading