Description: Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA. RefSeq Summary (NM_006019): 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]. Transcript (Including UTRs) Position: hg19 chr11:67,806,462-67,818,366 Size: 11,905 Total Exon Count: 20 Strand: + Coding Region Position: hg19 chr11:67,808,739-67,818,286 Size: 9,548 Coding Exon Count: 19
ID:VPP3_HUMAN DESCRIPTION: RecName: Full=V-type proton ATPase 116 kDa subunit a isoform 3; Short=V-ATPase 116 kDa isoform a3; AltName: Full=Osteoclastic proton pump 116 kDa subunit; Short=OC-116 kDa; Short=OC116; AltName: Full=T-cell immune regulator 1; AltName: Full=T-cell immune response cDNA7 protein; Short=TIRC7; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3; FUNCTION: Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation. SUBUNIT: The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By similarity). TISSUE SPECIFICITY: Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus. DISEASE: Defects in TCIRG1 are the cause of osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]; also called autosomal recessive Albers-Schonberg disease or infantile malignant osteopetrosis. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder 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. The features of OPTB1 are macrocephaly, progressive deafness and blindness, hepatosplenomegaly, and severe anemia beginning in early infancy or in fetal life. Deafness and blindness are generally thought to represent effects of pressure on nerves. SIMILARITY: Belongs to the V-ATPase 116 kDa subunit family. WEB RESOURCE: Name=TCIRG1base; Note=TCIRG1 mutation db; URL="http://bioinf.uta.fi/TCIRG1base/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TCIRG1";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TCIRG1 CDC HuGE Published Literature: TCIRG1 Positive Disease Associations: bone mass Related Studies:
bone mass Sobacchi, C. et al. 2003, Association Between a Polymorphism Affecting an AP1 Binding Site in the Promoter of the TCIRG1 Gene and Bone Mass in Women, Calcified tissue international. 2004 Jan;74(1):35-41.
[PubMed 14523594]
We conclude that , in this relatively large population, allelic variation at the G-1102A site of TCIRG1 accounts for part of the heritable component of BMD in Scottish women, possibly by affecting peak bone mass.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01496 - V-type ATPase 116kDa subunit family
ModBase Predicted Comparative 3D Structure on Q13488
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006968 cellular defense response GO:0007035 vacuolar acidification GO:0007039 protein catabolic process in the vacuole GO:0008284 positive regulation of cell proliferation GO:0008286 insulin receptor signaling pathway GO:0015986 ATP synthesis coupled proton transport GO:0015991 ATP hydrolysis coupled proton transport GO:0016236 macroautophagy GO:0033572 transferrin transport GO:0034220 ion transmembrane transport GO:0043312 neutrophil degranulation GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly GO:1902600 hydrogen ion transmembrane transport
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