TCIRG1 is highly expressed on the long isoform in osteoclastomas and on the short isoform in thymus. Expression is at low levels in a pancreatic adenocarcinoma cell line but there is no expression in skeletal muscle, liver, kidney, brain, osteoclastoma stromal cells or a panel of human cell lines.
MOLECULAR FAMILY NAME: Belongs to the V-ATPase subunit family.
One study obtained a cDNA (OC116) which was a multi-pass 822 aa glycoprotein which contained a 390 aa extracellular C domain, 6 transmembrane domains and a N-terminal 432 aa cytoplasmic domain. A second study using RT-PCR identified a novel cDNA, (TCIRG1) which was a 614 aa multi-pass glycoprotein which contained an extracellular C domain, a 7-transmembrane domain structure and a N-terminal cytoplasmic domain. There were multiple putative phosphorylation sites for protein kinases C and A and Also N-linked glycosylation. TCIRG1 is a T cell immune regulator 1, ATPase, H+ transporting lysosomal V0 subunit A3. The V-ATPase is an heteromultimeric enzyme composed of at least 13 different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation.
Alternative splicing yields 2 different isoforms.
TCIRG1 has multiple putative phosphorylation sites and N-linked glycosylation sites.
|LIGANDS AND MOLECULES ASSOCIATED WITH TCIRG1: No information.|
V-ATPhase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for intracellular processes such as protein sorting, zymogen activation and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. TCIRG1 is part of the proton channel V-ATPase and it seems to be involved in T cell activation.
BIOCHEMICAL ACTIVITY: No information.
DISEASE RELEVANCE AND FUNCTION OF TCIRF1 IN INTACT ANIMAL
Defects in TCIRG1 are the cause of autosomal recessive osteopetrosis (OPTB1), also known as autosomal Albers-Schonberg disease which is a disorder of bone metabolism and is thought to cause deafness and blindness due to pressure on nerves.
PROTEINS AND DNA ELEMENTS WHICH REGULATE TRANSCRIPTION OF TCIRG1: No information.
SUBSTRATES: No information.
ENZYMES WHICH MODIFY TCIRG1: No information.
Database accession numbers
June 25, 2008
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