GPR143 in melanocytes and retinal pigment epithelium cells (WP4941)

Homo sapiens

A disease model demonstrating the potential 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.

Authors

Victor Marx , Friederike Ehrhart , Egon Willighagen , Marvin Martens , Eric Weitz , and Martina Summer-Kutmon

Activity

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Organisms

Homo sapiens

Communities

Annotations

Cell Type Ontology

melanocyte retinal pigment epithelial cell

Disease Ontology

ocular albinism

Pathway Ontology

disease pathway

Participants

Label Type Compact URI Comment
IP3 Metabolite chebi:18228
cAMP Metabolite chebi:17489
Ca2+ Metabolite chebi:29108
L-tyrosine Metabolite chebi:17895
Dopachrome Metabolite hmdb:HMDB0012931
L-DOPA Metabolite chebi:15765
DHICA Metabolite chebi:2003
ATP Metabolite chebi:30616
IQ Metabolite chebi:27406
PPi Metabolite chebi:29888
DAG Metabolite chebi:17815
Dopamine Metabolite chebi:18243
DQ Metabolite chebi:16852
DHI Metabolite chebi:27404
ADCY9 GeneProduct ensembl:ENSG00000162104
SERPINF1 GeneProduct ensembl:ENSG00000132386
PMEL GeneProduct ensembl:ENSG00000185664
GNAQ GeneProduct ensembl:ENSG00000156052
PRKACB GeneProduct ensembl:ENSG00000142875
GNA15 GeneProduct ensembl:ENSG00000060558
ADCY4 GeneProduct ensembl:ENSG00000129467
ASIP GeneProduct ensembl:ENSG00000101440
VEGFA GeneProduct ensembl:ENSG00000112715
POMC GeneProduct ensembl:ENSG00000115138
PRKACA GeneProduct ensembl:ENSG00000072062
ARRB2 GeneProduct ensembl:ENSG00000141480
PRKACG GeneProduct ensembl:ENSG00000165059
DCT GeneProduct ensembl:ENSG00000080166
TYR GeneProduct ensembl:ENSG00000077498
ADCY2 GeneProduct ensembl:ENSG00000078295
TYRP1 GeneProduct ensembl:ENSG00000107165
PLCB1 GeneProduct ensembl:ENSG00000182621
ARRB1 GeneProduct ensembl:ENSG00000137486
GNAS GeneProduct ensembl:ENSG00000087460
PLCB3 GeneProduct ensembl:ENSG00000149782
PLCB2 GeneProduct ensembl:ENSG00000137841
GPR143 GeneProduct ensembl:ENSG00000101850
CREB1 GeneProduct ensembl:ENSG00000118260 phosphorylated by PRKACA/B/G
PLCB4 GeneProduct hgnc.symbol:PLCB4
PRKCB GeneProduct ensembl:ENSG00000166501
MLANA GeneProduct ensembl:ENSG00000120215
ITPR1 GeneProduct ensembl:ENSG00000150995 https://www.wikipathways.org/index.php/Pathway:WP35
MITF GeneProduct ensembl:ENSG00000187098
TYRP1 Protein uniprot:P17643
PMEL Protein uniprot:P40967
DCT Protein uniprot:P40126
MITF Protein uniprot:O75030
MC1R Protein uniprot:Q01726
GPR143 Protein uniprot:P51810
MART-1 Protein uniprot:Q16655

References

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