GPR143

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]

GPR143
Identifiers
AliasesGPR143, NYS6, OA1, G protein-coupled receptor 143
External IDsOMIM: 300808 MGI: 107193 HomoloGene: 230 GeneCards: GPR143
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

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

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

Interactions

GPR143 has been shown to interact with GNAI1.[8]

References

  1. 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, Ilaria; Bagnato, Paola; Palmigiano, Angela; Innamorati, Giulio; Rotondo, Giuseppe; Altimare, Domenico; Venturi, Consuelo; Sviderskaya, Elena V; Piccirillo, Rosanna; Coppola, Massimiliano; Marigo, Valeria; Incerti, Barbara; Ballabio, Andrea; Surace, Enrico M; Tacchetti, Carlo (2008-11-01). "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. ISSN 1460-2083. PMC 2572695. PMID 18697795.
  6. Innamorati, Giulio; Piccirillo, Rosanna; Bagnato, Paola; Palmisano, Ilaria; Schiaffino, Maria Vittoria (2006-04-01). "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. ISSN 1600-0749. PMC 1459912. PMID 16524428.
  7. Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A (Sep 1995). "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome". Nat Genet. 10 (1): 13–9. doi:10.1038/ng0595-13. PMID 7647783. S2CID 205342065.
  8. Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A (Sep 1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nat Genet. 23 (1): 108–12. doi:10.1038/12715. PMID 10471510. S2CID 6604295.
  9. Schiaffino, M V; d'Addio, M; Alloni, A; Baschirotto, C; Valetti, C; Cortese, K; Puri, C; Bassi, M T; Colla, C; De Luca, M; Tacchetti, C; Ballabio, A (1999-09-01). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics. 23 (1): 108–112. doi:10.1038/12715. ISSN 1546-1718. PMID 10471510. S2CID 6604295.
  10. Vetrini F, Auricchio A, Du J, et al. (2004). "The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis". Mol. Cell. Biol. 24 (15): 6550–9. doi:10.1128/MCB.24.15.6550-6559.2004. PMC 444869. PMID 15254223.
  11. Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. 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 Biol. 6 (9): e236. doi:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673.

Further reading

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