TCIRG1

Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. 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. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq]

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3

Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity).
V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity).
Seems to be directly involved in T-cell activation (PubMed:10329006).

Biological Process apoptotic processIEA:Ensembl
Biological Process autophagosome assemblyIEA:Ensembl
Biological Process B cell differentiationIEA:Ensembl
Biological Process bone resorptionIEA:Ensembl
Biological Process cellular calcium ion homeostasisIEA:Ensembl
Biological Process cellular defense responseTAS:ProtInc1 Publication
Biological Process cellular response to cytokine stimulusIEA:Ensembl
Biological Process dentin mineralizationIEA:Ensembl
Biological Process enamel mineralizationIEA:Ensembl
Biological Process establishment of cell polarityIEA:Ensembl
Biological Process establishment of vesicle localizationIEA:Ensembl
Biological Process gene expressionIEA:Ensembl
Biological Process hematopoietic stem cell homeostasisIEA:Ensembl
Biological Process immunoglobulin mediated immune responseIEA:Ensembl
Biological Process inflammatory responseIEA:Ensembl
Biological Process lysosomal lumen acidificationIC:ComplexPortal1 Publication
Biological Process macroautophagyISS:ParkinsonsUK-UCL
Biological Process memory T cell activationIEA:Ensembl
Biological Process optic nerve developmentIEA:Ensembl
Biological Process ossificationIEA:Ensembl
Biological Process osteoclast differentiationIEA:Ensembl
Biological Process osteoclast proliferationIEA:Ensembl
Biological Process pH reductionIEA:Ensembl
Biological Process phagosome acidificationIEA:Ensembl
Biological Process positive regulation of cell population proliferationTAS:ProtInc1 Publication
Biological Process protein catabolic process in the vacuoleISS:ParkinsonsUK-UCL
Biological Process protein localization to organelleIEA:Ensembl
Biological Process proton transmembrane transportTAS:ProtInc1 Publication
Biological Process regulation of gene expressionIEA:Ensembl
Biological Process regulation of insulin secretionIEA:Ensembl
Biological Process regulation of osteoblast differentiationIEA:Ensembl
Biological Process regulation of proton transportIEA:Ensembl
Biological Process response to silver ionIEA:Ensembl
Biological Process retina development in camera-type eyeIEA:Ensembl
Biological Process ruffle organizationIEA:Ensembl
Biological Process T cell differentiationIEA:Ensembl
Biological Process T cell homeostasisIEA:Ensembl
Biological Process T-helper 1 cell activationIEA:Ensembl
Biological Process tooth eruptionIEA:Ensembl
Biological Process vacuolar acidificationIBA:GO_Central1 Publication

Membrane

Osteopetrosis, autosomal recessive 1 (OPTB1):
A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.

Cytoplasmic: 1-385
Helical: 386-404
Vacuolar: 405-406
Helical: 407-423
Cytoplasmic: 424-438
Helical: 439-468
Vacuolar: 469-532
Helical: 533-552
Cytoplasmic: 553-570
Helical: 571-591
Vacuolar: 592-635
Helical: 636-655
Cytoplasmic: 656-720
Helical: 721-745
Vacuolar: 746-766
Helical: 767-807
Cytoplasmic: 808-830