TCIRG1 blocking peptide
TCIRG1 Antibody
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Transporter, iron; Energy Metabolism - oxidative phosphorylation; Mitochondrial; Transporter; Transporter, ion channel; Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 11q13.2
Cellular Component: phagocytic vesicle membrane; mitochondrion; integral to plasma membrane; lysosomal 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; ATP hydrolysis coupled proton transport; positive regulation of cell proliferation; insulin receptor signaling pathway; cellular defense response; transferrin transport; transmembrane transport
Disease: Osteopetrosis, Autosomal Recessive 1
Research Articles on TCIRG1
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Product Notes
The TCIRG1 tcirg1 (Catalog #AAA9631581) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "TCIRG1, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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