GPR143
Summary: This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:300808 Ensembl IDEnsembl:ENSG00000101850 HGNC IDHGNC:HGNC:20145 PHARMGKB IDPA31872 Map LocationXp22.2 | |||||
GO terms in GPR143
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006726 | eye pigment biosynthetic process |
| BP | TAS | GO:0007165 | signal transduction |
| BP | IBA | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IDA | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IMP | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | TAS | GO:0007186 | G-protein coupled receptor signaling pathway |
Gene expression in normal tissue: GPR143
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GPR143
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP117 | GPCRs, Other |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-373076 | Class A/1 (Rhodopsin-like receptors) |
| reactome | R-HSA-375280 | Amine ligand-binding receptors |
| reactome | R-HSA-388396 | GPCR downstream signalling |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GPR143
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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