TCIRG1 Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

TCIRG1: Part of the proton channel of V-ATPases. Seems to be directly involved in T-cell activation. Defects in TCIRG1 are the cause of osteopetrosis autosomal recessive type 1 (OPTB1); 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. Belongs to the V-ATPase 116 kDa subunit family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Energy Metabolism - oxidative phosphorylation; Transporter; Transporter, iron; Mitochondrial; Membrane protein, multi-pass; Transporter, ion channel; Membrane protein, integral

Chromosomal Location of Human Ortholog: 11q13.2

Cellular Component: phagocytic vesicle membrane; mitochondrion; lysosomal membrane; integral to plasma membrane; apical plasma membrane; plasma membrane; endosome membrane; vacuolar proton-transporting V-type ATPase complex

Molecular Function: transporter activity; hydrogen ion transporting ATPase activity, rotational mechanism; ATPase binding

Biological Process: interaction with host; vacuolar acidification; proton transport; ATP synthesis coupled proton transport; cellular iron ion homeostasis; positive regulation of cell proliferation; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular defense response; transferrin transport; transmembrane transport

Disease: Osteopetrosis, Autosomal Recessive 1