OA1 (Homo sapiens)

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A model demonstrating the place of the GPR143 gene in the pathogenesis of ocular albinism type 1. The latter shows the interactions between GPR143 and the different genes responsible for melanogenesis as well as growth factors such as SERPINF1 and VEGF in melanocytes or the retinal pigment epithelium.

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  1. Hoashi T, Watabe H, Muller J, Yamaguchi Y, Vieira WD, Hearing VJ; ''MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
  2. ''''; , PubMed Europe PMC Scholia
  3. McKay BS; ''Pigmentation and vision: Is GPR143 in control?''; J Neurosci Res, 2019 PubMed Europe PMC Scholia
  4. Giordano F, Bonetti C, Surace EM, Marigo V, Raposo G; ''The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition.''; Hum Mol Genet, 2009 PubMed Europe PMC Scholia
  5. Möller K, Sigurbjornsdottir S, Arnthorsson AO, Pogenberg V, Dilshat R, Fock V, Brynjolfsdottir SH, Bindesboll C, Bessadottir M, Ogmundsdottir HM, Simonsen A, Larue L, Wilmanns M, Thorsson V, Steingrimsson E, Ogmundsdottir MH; ''MITF has a central role in regulating starvation-induced autophagy in melanoma.''; Sci Rep, 2019 PubMed Europe PMC Scholia
  6. Schiaffino MV; ''Signaling pathways in melanosome biogenesis and pathology.''; Int J Biochem Cell Biol, 2010 PubMed Europe PMC Scholia
  7. D'Mello SA, Finlay GJ, Baguley BC, Askarian-Amiri ME; ''Signaling Pathways in Melanogenesis.''; Int J Mol Sci, 2016 PubMed Europe PMC Scholia
  8. Vachtenheim J, Borovanský J; ''"Transcription physiology" of pigment formation in melanocytes: central role of MITF.''; Exp Dermatol, 2010 PubMed Europe PMC Scholia
  9. De Filippo E, Schiedel AC, Manga P; ''Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1.''; J Invest Dermatol, 2017 PubMed Europe PMC Scholia
  10. Wilson BD, Ollmann MM, Kang L, Stoffel M, Bell GI, Barsh GS; ''Structure and function of ASP, the human homolog of the mouse agouti gene.''; Hum Mol Genet, 1995 PubMed Europe PMC Scholia
  11. Gonzalez GA, Montminy MR; ''Cyclic AMP stimulates somatostatin gene transcription by phosphorylation of CREB at serine 133.''; Cell, 1989 PubMed Europe PMC Scholia
  12. Pillaiyar T, Manickam M, Jung SH; ''Recent development of signaling pathways inhibitors of melanogenesis.''; Cell Signal, 2017 PubMed Europe PMC Scholia
  13. ''''; , PubMed Europe PMC Scholia
  14. Innamorati G, Piccirillo R, Bagnato P, Palmisano I, Schiaffino MV; ''The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor.''; Pigment Cell Res, 2006 PubMed Europe PMC Scholia
  15. Figueroa AG, McKay BS; ''A G-Protein Coupled Receptor and Macular Degeneration.''; Cells, 2020 PubMed Europe PMC Scholia


110934view16:27, 22 June 2020Victor MarxNew pathway

External references


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NameTypeDatabase referenceComment
ADCY2GeneProductENSG00000078295 (Ensembl)
ADCY4GeneProductENSG00000129467 (Ensembl)
ADCY9GeneProductENSG00000162104 (Ensembl)
ARRB1GeneProductENSG00000137486 (Ensembl)
ARRB2GeneProductENSG00000141480 (Ensembl)
ASIPGeneProductENSG00000101440 (Ensembl)
ATPMetaboliteCHEBI:30616 (ChEBI)
CREB1GeneProductENSG00000118260 (Ensembl) phosphorylated by PRKACA/B/G
Ca2+MetaboliteCHEBI:3308 (ChEBI)
DAGMetaboliteCHEBI:17815 (ChEBI)
DCTGeneProductENSG00000080166 (Ensembl)
DCTProteinP40126 (Uniprot-TrEMBL)
DHICAMetaboliteCHEBI:2003 (ChEBI)
DHIMetaboliteCHEBI:27404 (ChEBI)
DQMetaboliteCHEBI:16852 (ChEBI)
Dopachrome MetaboliteHMDB12931 (HMDB)
GNA15GeneProductENSG00000060558 (Ensembl)
GNAQGeneProductENSG00000156052 (Ensembl)
GNASGeneProductENSG00000087460 (Ensembl)
GPR143GeneProductENSG00000101850 (Ensembl)
GPR143ProteinP51810 (Uniprot-SwissProt)
IP3MetaboliteCHEBI:19190 (ChEBI)
IQMetaboliteCHEBI:27406 (ChEBI)
ITPR1GeneProductENSG00000150995 (Ensembl) https://www.wikipathways.org/index.php/Pathway:WP35
L-DOPAMetaboliteCHEBI:15765 (ChEBI)
L-tyrosineMetaboliteCHEBI:17895 (ChEBI)
MART-1ProteinQ16655 (Uniprot-TrEMBL)
MC1RProteinQ01726 (Uniprot-SwissProt)
MITFGeneProductENSG00000187098 (Ensembl)
MITFProteinO75030 (Uniprot-TrEMBL)
MLANAGeneProductENSG00000120215 (Ensembl)
PLCB1GeneProductENSG00000182621 (Ensembl)
PLCB2GeneProductENSG00000137841 (Ensembl)
PLCB3GeneProductENSG00000149782 (Ensembl)
PLCB4GeneProductPLCB4 (HGNC)
PMELGeneProductENSG00000185664 (Ensembl)
PMELProteinP40967 (Uniprot-TrEMBL)
POMCGeneProductENSG00000115138 (Ensembl)
PPiMetaboliteCHEBI:29888 (ChEBI)
PRKACAGeneProductENSG00000072062 (Ensembl)
PRKACBGeneProductENSG00000142875 (Ensembl)
PRKACGGeneProductENSG00000165059 (Ensembl)
PRKCBGeneProductENSG00000166501 (Ensembl)
SERPINF1GeneProductENSG00000132386 (Ensembl)
TYRGeneProductENSG00000077498 (Ensembl)
TYRP1GeneProductENSG00000107165 (Ensembl)
TYRP1ProteinP17643 (Uniprot-TrEMBL)
TyrosinaseProteinP14679 (Uniprot-TrEMBL)
VEGFAGeneProductENSG00000112715 (Ensembl)
cAMPMetaboliteCHEBI:17489 (ChEBI)

Annotated Interactions

No annotated interactions

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