T-Cell, Immune Regulator 1 (TCIRG1)

Stv1; Vph1; ATP6N1C; ATP6V0A3; Atp6i; OC-116kDa; OC116; OPTB1; TIRC7; a3; V-Type Proton ATPase 116 kDa Subunit A Isoform 3; Osteoclastic proton pump 116 kDa subunit

SPN	M050
HGNC	11647
MGI	1350931
PubMed	24989235
RGD	735136
UniProt	Q13488
Wiki	TCIRG1

TIRC7 protein is predicted to have an N-terminal cytoplasmic domain, a 7-transmembrane domain structure, and an extracellular C domain. There are multiple putative phosphorylation sites for protein kinases C and A as well as N-linked glycosylation sites. Northern blot analysis revealed that alloantigen stimulation resulted in a 20-fold upregulation of the expected 2.5- as well as a 4.0-kb transcript of TCIRG1. TCIRG1 expression could be blocked by cyclosporine A, suggesting that its expression occurs via the calcineurin signaling pathway. Northern blot analysis also revealed that TIRC7 is almost exclusively expressed in immune system tissues but not in various B-cell lines. Western blot analysis detected TIRC7 predominantly in membrane extracts of human lymphocytes as a single protein of 75 kD.

Reference

"Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit."
Biochem. Biophys. Res. Commun. 218:813-821(1996) [PubMed] [Europe PMC] [Abstract]

"Genomic organization of the gene coding for TIRC7, a novel membrane protein essential for T cell activation."
Genomics 57:398-406(1999) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The mutational spectrum of human malignant autosomal recessive osteopetrosis."
Hum. Mol. Genet. 10:1767-1773(2001) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis."
Hum. Mutat. 21:151-157(2003) [PubMed] [Europe PMC] [Abstract]

"TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA."
Hum. Mutat. 24:225-235(2004) [PubMed] [Europe PMC] [Abstract]