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 |
|---|---|---|---|---|---|
| T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | MIM:604592 | Ensembl:ENSG00000110719 | HGNC:HGNC:11647 | PA36399 | 11q13.2 |
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 |
| BP | ISS | GO:0016236 | macroautophagy |
| BP | TAS | GO:0033572 | transferrin transport |
| BP | TAS | GO:0034220 | ion transmembrane transport |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | TAS | GO:1902600 | proton transmembrane transport |
| CC | IEA | GO:0000220 | vacuolar proton-transporting V-type ATPase, V0 domain |
| CC | HDA | GO:0005765 | lysosomal membrane |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | TAS | GO:0010008 | endosome membrane |
| CC | IDA | GO:0016324 | apical plasma membrane |
| CC | IBA | GO:0016471 | vacuolar proton-transporting V-type ATPase complex |
| CC | TAS | GO:0030670 | phagocytic vesicle membrane |
| CC | TAS | GO:0101003 | ficolin-1-rich granule membrane |
| MF | TAS | GO:0005215 | transporter activity |
| MF | IBA | GO:0046961 | proton-transporting ATPase activity, rotational mechanism |
| MF | IBA | GO:0051117 | ATPase binding |
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) |
| kegg | hsa05120 | Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human) |
| kegg | hsa05152 | Tuberculosis - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05323 | Rheumatoid arthritis - Homo sapiens (human) |
| wikipathways | WP3945 | TYROBP Causal Network |
| reactome | R-HSA-1222556 | ROS, RNS production in phagocytes |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-74752 | Signaling by Insulin receptor |
| reactome | R-HSA-77387 | Insulin receptor recycling |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| reactome | R-HSA-917937 | Iron uptake and transport |
| reactome | R-HSA-917977 | Transferrin endocytosis and recycling |
| reactome | R-HSA-983712 | Ion channel transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TCIRG1
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