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TCIRG1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3 [ Homo sapiens (human) ]

Gene ID: 10312, updated on 8-May-2016
Official Symbol
TCIRG1provided by HGNC
Official Full Name
T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3provided by HGNC
Primary source
HGNC:HGNC:11647
See related
Ensembl:ENSG00000110719 HPRD:05207; MIM:604592; Vega:OTTHUMG00000167358
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
a3; Stv1; Vph1; Atp6i; OC116; OPTB1; TIRC7; ATP6N1C; ATP6V0A3; OC-116kDa
Summary
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]
Orthologs
Location:
11q13.2
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (68038995..68050899)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67806462..67818366)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase core subunit S8 Neighboring gene microRNA 7113 Neighboring gene microRNA 4691 Neighboring gene microRNA 6753 Neighboring gene choline kinase alpha Neighboring gene uncharacterized LOC105369362

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Collecting duct acid secretion, organism-specific biosystem (from KEGG)
    Collecting duct acid secretion, organism-specific biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
  • Collecting duct acid secretion, conserved biosystem (from KEGG)
    Collecting duct acid secretion, conserved biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
  • Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystem (from KEGG)
    Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
  • Epithelial cell signaling in Helicobacter pylori infection, conserved biosystem (from KEGG)
    Epithelial cell signaling in Helicobacter pylori infection, conserved biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Insulin receptor recycling, organism-specific biosystem (from REACTOME)
    Insulin receptor recycling, organism-specific biosystemTriggered by acidification of the endosome, insulin dissociates from the receptor and is degraded. The receptor is dephosphorylated and re-integrated into the plasma membrane, ready to be activated a...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Iron uptake and transport, organism-specific biosystem (from REACTOME)
    Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
    Oxidative phosphorylation, organism-specific biosystem
    Oxidative phosphorylation
  • Oxidative phosphorylation, conserved biosystem (from KEGG)
    Oxidative phosphorylation, conserved biosystem
    Oxidative phosphorylation
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • ROS, RNS production in response to bacteria, organism-specific biosystem (from REACTOME)
    ROS, RNS production in response to bacteria, organism-specific biosystemWhen engulfed by macrophages, microorganisms are exposed to a number of host defense mechanisms within the resulting phagosome and through its subsequent fusion with lysosomes. These include the prod...
  • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
    Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Rheumatoid arthritis, conserved biosystem (from KEGG)
    Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
    Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Synaptic vesicle cycle, conserved biosystem (from KEGG)
    Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Transferrin endocytosis and recycling, organism-specific biosystem (from REACTOME)
    Transferrin endocytosis and recycling, organism-specific biosystemEndocytosis of iron loaded transferrin/receptor complex leads, after acidification of the endosome, to the separation of iron and its diffusion out of the vesicle. The endosome is not fused with a ly...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • V-type ATPase, eukaryotes, organism-specific biosystem (from KEGG)
    V-type ATPase, eukaryotes, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
  • V-type ATPase, eukaryotes, conserved biosystem (from KEGG)
    V-type ATPase, eukaryotes, conserved biosystemStructural complex; Energy metabolism; ATP synthesis
  • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
    Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
  • Vibrio cholerae infection, conserved biosystem (from KEGG)
    Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
proton-transporting ATPase activity, rotational mechanism IBA
Inferred from Biological aspect of Ancestor
more info
 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP hydrolysis coupled proton transport IEA
Inferred from Electronic Annotation
more info
 
ATP synthesis coupled proton transport IBA
Inferred from Biological aspect of Ancestor
more info
 
cellular defense response TAS
Traceable Author Statement
more info
PubMed 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
macroautophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
phagosome acidification TAS
Traceable Author Statement
more info
 
positive regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
protein catabolic process in the vacuole ISS
Inferred from Sequence or Structural Similarity
more info
 
proton transport TAS
Traceable Author Statement
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
vacuolar acidification IBA
Inferred from Biological aspect of Ancestor
more info
 
vacuolar proton-transporting V-type ATPase complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
vacuolar proton-transporting V-type ATPase complex IBA
Inferred from Biological aspect of Ancestor
more info
 
vacuolar proton-transporting V-type ATPase, V0 domain IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
V-type proton ATPase 116 kDa subunit a isoform 3
Names
ATPase, H+ transporting, 116kD
OC-116 kDa
T-cell immune response cDNA 7
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
V-ATPase 116-kDa
V-type proton ATPase 116 kDa subunit a
osteoclastic proton pump 116 kDa subunit
specific 116-kDa vacuolar proton pump subunit
vacuolar proton translocating ATPase 116 kDa subunit A
NP_006010.2
NP_006044.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007878.1 RefSeqGene

    Range
    4980..16884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_115

mRNA and Protein(s)

  1. NM_006019.3NP_006010.2  V-type proton ATPase 116 kDa subunit a isoform 3 isoform a

    See identical proteins and their annotated locations for NP_006010.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a, also known as the OC116 protein because it is one of three V-ATPase 116 kD subunits. It is also referred to as the a3 isoform and is induced on osteoclast differentiation. This variant contains a unique 5' end and lacks an internal segment compared to variant 2, which results in an isoform (a) with a different N-terminus than that of isoform b.
    Source sequence(s)
    AA625923, BC018133, BX388184
    Consensus CDS
    CCDS8177.1
    UniProtKB/Swiss-Prot
    Q13488
    UniProtKB/TrEMBL
    A0A024R5E5
    Related
    ENSP00000265686, OTTHUMP00000235794, ENST00000265686, OTTHUMT00000394305
    Conserved Domains (1) summary
    pfam01496
    Location:26825
    V_ATPase_I; V-type ATPase 116kDa subunit family
  2. NM_006053.3NP_006044.1  V-type proton ATPase 116 kDa subunit a isoform 3 isoform b

    See identical proteins and their annotated locations for NP_006044.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform b, also known as the TCIR7 protein. This protein is expressed in T lymphocytes and is essential for normal T cell activation. This variant uses a transcription start site that is within exon 5 of variant 1, and it also includes the following intron as part of its 5' UTR. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AA625923, AF025374
    Consensus CDS
    CCDS53670.1
    UniProtKB/Swiss-Prot
    Q13488
    Related
    ENSP00000434407, OTTHUMP00000235863, ENST00000532635, OTTHUMT00000394447
    Conserved Domains (1) summary
    pfam01496
    Location:1609
    V_ATPase_I; V-type ATPase 116kDa subunit family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    68038995..68050899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273709.2XP_005273766.1  

    See identical proteins and their annotated locations for XP_005273766.1

    UniProtKB/Swiss-Prot
    Q13488
    UniProtKB/TrEMBL
    A0A024R5E5
    Conserved Domains (1) summary
    pfam01496
    Location:26825
    V_ATPase_I; V-type ATPase 116kDa subunit family
  2. XM_011544726.1XP_011543028.1  

    See identical proteins and their annotated locations for XP_011543028.1

    UniProtKB/Swiss-Prot
    Q13488
    UniProtKB/TrEMBL
    A0A024R5E5
    Conserved Domains (1) summary
    pfam01496
    Location:26825
    V_ATPase_I; V-type ATPase 116kDa subunit family
  3. XM_011544727.1XP_011543029.1  

    Conserved Domains (1) summary
    pfam01496
    Location:26745
    V_ATPase_I; V-type ATPase 116kDa subunit family
  4. XM_011544728.1XP_011543030.1  

    Conserved Domains (1) summary
    pfam01496
    Location:26618
    V_ATPase_I; V-type ATPase 116kDa subunit family
  5. XM_011544729.1XP_011543031.1  

    Conserved Domains (1) summary
    pfam01496
    Location:26238
    V_ATPase_I; V-type ATPase 116kDa subunit family

RNA

  1. XR_949754.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    67690218..67702120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)