InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TCIRG1

Summary

InnateDB Protein

IDBP-586215.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TCIRG1

Protein Name

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

Synonyms

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

Species

Homo sapiens

Ensembl Protein

ENSP00000434407

InnateDB Gene

IDBG-61185 (TCIRG1)

Protein Structure

UniProt Annotation

Function

Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation. {ECO:0000250}.

Subcellular Localization

Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.

Disease Associations

Osteopetrosis, autosomal recessive 1 (OPTB1) [MIM:259700]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis 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. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. {ECO:0000269PubMed:11532986, ECO:0000269PubMed:12552563, ECO:0000269PubMed:15300850}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform long is highly expressed in osteoclastomas. Isoform short is highly expressed in thymus.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.

Experimentally validated
Total	16 [view]
Protein-Protein	14 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0015078	hydrogen ion transmembrane transporter activity

Biological Process

GO:0006879	cellular iron ion homeostasis
GO:0006968	cellular defense response
GO:0008284	positive regulation of cell proliferation
GO:0008286	insulin receptor signaling pathway
GO:0015991	ATP hydrolysis coupled proton transport
GO:0015992	proton transport
GO:0033572	transferrin transport
GO:0051701	interaction with host
GO:0055085	transmembrane transport
GO:0090382	phagosome maturation

Cellular Component

GO:0000220	vacuolar proton-transporting V-type ATPase, V0 domain
GO:0005765	lysosomal membrane
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0010008	endosome membrane
GO:0016324	apical plasma membrane
GO:0030670	phagocytic vesicle membrane
GO:0033179	proton-transporting V-type ATPase, V0 domain