TCIRG1
Summary: This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:604592 Ensembl IDEnsembl:ENSG00000110719 HGNC IDHGNC:HGNC:11647 PHARMGKB IDPA36399 Map Location11q13.2 | |||||
GO terms in TCIRG1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006968 | cellular defense response |
| BP | IBA | GO:0007035 | vacuolar acidification |
| BP | ISS | GO:0007039 | protein catabolic process in the vacuole |
| BP | TAS | GO:0008284 | positive regulation of cell proliferation |
| BP | TAS | GO:0008286 | insulin receptor signaling pathway |
| BP | IEA | GO:0015991 | ATP hydrolysis coupled proton transport |
Gene expression in normal tissue: TCIRG1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TCIRG1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00190 | Oxidative phosphorylation - Homo sapiens (human) |
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
| kegg | hsa04145 | Phagosome - Homo sapiens (human) |
| kegg | hsa04721 | Synaptic vesicle cycle - Homo sapiens (human) |
| kegg | hsa04966 | Collecting duct acid secretion - Homo sapiens (human) |
| kegg | hsa05110 | Vibrio cholerae infection - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TCIRG1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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