TCIRG1

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
Identifiers
Symbols	TCIRG1 ; Stv1; Vph1; ATP6N1C; ATP6V0A3; Atp6i; OC-116kDa; OC116; OPTB1; TIRC7; a3
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4392
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE TCIRG1 204158 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3, also known as TCIRG1, is a human gene.

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.

Further reading

• Finbow ME, Harrison MA (1997). "The vacuolar H+-ATPase: a universal proton pump of eukaryotes". Biochem. J. 324 ( Pt 3): 697–712. PMID 9210392.
• Stevens TH, Forgac M (1998). "Structure, function and regulation of the vacuolar (H+)-ATPase". Annu. Rev. Cell Dev. Biol. 13: 779–808. doi:10.1146/annurev.cellbio.13.1.779. PMID 9442887.
• Nelson N, Harvey WR (1999). "Vacuolar and plasma membrane proton-adenosinetriphosphatases". Physiol. Rev. 79 (2): 361–85. PMID 10221984.
• Forgac M (1999). "Structure and properties of the vacuolar (H+)-ATPases". J. Biol. Chem. 274 (19): 12951–4. PMID 10224039.
• Kane PM (1999). "Introduction: V-ATPases 1992-1998". J. Bioenerg. Biomembr. 31 (1): 3–5. PMID 10340843.
• Wieczorek H, Brown D, Grinstein S; et al. (1999). "Animal plasma membrane energization by proton-motive V-ATPases". Bioessays. 21 (8): 637–48. doi:10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W. PMID 10440860.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nishi T, Forgac M (2002). "The vacuolar (H+)-ATPases--nature's most versatile proton pumps". Nat. Rev. Mol. Cell Biol. 3 (2): 94–103. doi:10.1038/nrm729. PMID 11836511.
• Kawasaki-Nishi S, Nishi T, Forgac M (2003). "Proton translocation driven by ATP hydrolysis in V-ATPases". FEBS Lett. 545 (1): 76–85. PMID 12788495.CS1 maint: Multiple names: authors list (link)
• Morel N (2004). "Neurotransmitter release: the dark side of the vacuolar-H+ATPase". Biol. Cell. 95 (7): 453–7. PMID 14597263.
• Li YP, Chen W, Stashenko P (1996). "Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit". Biochem. Biophys. Res. Commun. 218 (3): 813–21. doi:10.1006/bbrc.1996.0145. PMID 8579597.CS1 maint: Multiple names: authors list (link)
• Utku N, Heinemann T, Tullius SG; et al. (1998). "Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein". Immunity. 9 (4): 509–18. PMID 9806637.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Heinemann T, Bulwin GC, Randall J; et al. (1999). "Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation". Genomics. 57 (3): 398–406. doi:10.1006/geno.1999.5751. PMID 10329006.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Frattini A, Orchard PJ, Sobacchi C; et al. (2000). "Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis". Nat. Genet. 25 (3): 343–6. doi:10.1038/77131. PMID 10888887.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kornak U, Schulz A, Friedrich W; et al. (2000). "Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis". Hum. Mol. Genet. 9 (13): 2059–63. PMID 10942435.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)