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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| G protein-coupled receptor 143 | MIM:300808 | Ensembl:ENSG00000101850 | HGNC:HGNC:20145 | PA31872 | Xp22.2 |
GO terms in GPR143
| 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 |
| BP | IEA | GO:0007218 | neuropeptide signaling pathway |
| BP | TAS | GO:0007601 | visual perception |
| BP | IDA | GO:0032400 | melanosome localization |
| BP | IDA | GO:0032402 | melanosome transport |
| BP | IMP | GO:0032438 | melanosome organization |
| BP | IDA | GO:0035584 | calcium-mediated signaling using intracellular calcium source |
| BP | IDA | GO:0048015 | phosphatidylinositol-mediated signaling |
| BP | IDA | GO:0050848 | regulation of calcium-mediated signaling |
| BP | IEA | GO:1902908 | regulation of melanosome transport |
| BP | IEA | GO:1903056 | regulation of melanosome organization |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005765 | lysosomal membrane |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016324 | apical plasma membrane |
| CC | IDA | GO:0033162 | melanosome membrane |
| CC | IDA | GO:0042470 | melanosome |
| MF | IDA | GO:0004930 | G-protein coupled receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0035240 | dopamine binding |
| MF | IBA | GO:0035643 | L-DOPA receptor activity |
| MF | IDA | GO:0035643 | L-DOPA receptor activity |
| MF | IDA | GO:0072544 | L-DOPA binding |
| MF | IDA | GO:0072545 | tyrosine binding |
Gene expression in normal tissue: GPR143
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GPR143
| 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 |
| reactome | R-HSA-416476 | G alpha (q) signalling events |
| reactome | R-HSA-500792 | GPCR ligand binding |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GPR143
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.