TCIRG1

From Wikipedia, the free encyclopedia

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

Identifiers

TCIRG1; Stv1; Vph1; ATP6N1C; ATP6V0A3; Atp6i; OC-116kDa; OC116; OPTB1; TIRC7; a3

External IDs

OMIM: 604592 MGI: 1350931 HomoloGene: 4392

Gene ontology
Molecular Function:	• transporter activity • hydrogen ion transmembrane transporter activity
Cellular Component:	• plasma membrane • integral to plasma membrane • membrane
Biological Process:	• ion transport • cellular defense response • positive regulation of cell proliferation • proton transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_006019 (mRNA)
NP_006010 (protein)

NM_016921 (mRNA)
NP_058617 (protein)

Location

Chr 11: 67.56 - 67.57 Mb

Chr 19: 3.9 - 3.91 Mb

Pubmed search

[1]

[2]

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

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3.

[edit] 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.
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.
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.
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.
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.
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.
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.