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GPR143

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens

GPR143
Identifiers
AliasesGPR143, NYS6, OA1, G protein-coupled receptor 143
External IDsOMIM:300808;MGI:107193;HomoloGene:230;GeneCards:GPR143;OMA:GPR143 - orthologs
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[1]
X chromosome (mouse)
Genomic location for GPR143
Genomic location for GPR143
BandX F3|X 68.46 cMStart151,564,917bp[1]
End151,591,642bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • oocyte

  • secondary oocyte

  • retinal pigment epithelium

  • caudate nucleus

  • nucleus accumbens

  • putamen

  • cingulate gyrus

  • Amygdala

  • skin of abdomen

  • Brodmann area 9
Top expressed in
  • iris

  • retinal pigment epithelium

  • hair follicle

  • ciliary body

  • embryo

  • stria vascularis

  • embryo

  • morula

  • endothelial cell of lymphatic vessel

  • primary oocyte
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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
Protein family
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 aconservedintegral membrane protein with seven transmembrane domains and similarities withG protein-coupled receptors (GPCRs) that is expressed in the eye and epidermal melanocytes.[4][5][6] Thisprotein encoded by theGPR143gene,[7][8] whose variants can lead toOcular albinism type 1.[9]

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

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

Interactions

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GPR143 has been shown tointeract withGNAI1.[8]

References

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  1. ^abcGRCm38: Ensembl release 89: ENSMUSG00000025333Ensembl, 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. ^abSchiaffino 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.

Further reading

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External links

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