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

Gene ID: 10312, updated on 17-Jun-2019

Summary

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 MIM:604592
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
This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. 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. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in bone marrow (RPKM 27.5), spleen (RPKM 26.3) and 25 other tissues See more
Orthologs

Genomic context

See TCIRG1 in Genome Data Viewer
Location:
11q13.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (68039000..68053846)
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 microRNA 7113 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S8 Neighboring gene microRNA 4691 Neighboring gene microRNA 6753 Neighboring gene choline kinase alpha Neighboring gene uncharacterized LOC105369362 Neighboring gene lysine methyltransferase 5B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • 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
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • 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 phagocytes, organism-specific biosystem (from REACTOME)
    ROS, RNS production in phagocytes, organism-specific biosystemThe first line of defense against infectious agents involves an active recruitment of phagocytes to the site of infection. Recruited cells include polymorhonuclear (PMN) leukocytes (i.e., neutrophils...
  • 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, ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton-transporting ATPase activity, rotational mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
T cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
T-helper 1 cell activation IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
bone resorption IEA
Inferred from Electronic Annotation
more info
 
cellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular defense response TAS
Traceable Author Statement
more info
PubMed 
cellular response to cytokine stimulus IEA
Inferred from Electronic Annotation
more info
 
dentin mineralization IEA
Inferred from Electronic Annotation
more info
 
enamel mineralization IEA
Inferred from Electronic Annotation
more info
 
hematopoietic stem cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
immunoglobulin mediated immune response IEA
Inferred from Electronic Annotation
more info
 
immunoglobulin production IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
interferon-gamma secretion IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
macroautophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
memory T cell activation IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
optic nerve development IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
 
osteoclast proliferation IEA
Inferred from Electronic Annotation
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 transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of proton transport IEA
Inferred from Electronic Annotation
more info
 
response to silver ion IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
tooth eruption IEA
Inferred from Electronic Annotation
more info
 
transferrin transport TAS
Traceable Author Statement
more info
 
vacuolar acidification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
late endosome IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
vacuolar proton-transporting V-type ATPase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vacuolar proton-transporting V-type ATPase, V0 domain IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
V-type proton ATPase 116 kDa subunit a isoform 3; V-type proton ATPase 116 kDa subunit a
Names
ATPase, H+ transporting, 116kD
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
osteoclastic proton pump 116 kDa subunit
specific 116-kDa vacuolar proton pump subunit
vacuolar proton translocating ATPase 116 kDa subunit A
NP_001337988.1
NP_006010.2
NP_006044.1
XP_024304088.1
XP_024304089.1
XP_024304090.1
XP_024304091.1
XP_024304092.1

NCBI Reference Sequences (RefSeq)

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_001351059.2NP_001337988.1  V-type proton ATPase 116 kDa subunit a isoform 3 isoform c

    Status: REVIEWED

    Source sequence(s)
    AP002807
    Conserved Domains (1) summary
    pfam01496
    Location:1527
    V_ATPase_I; V-type ATPase 116kDa subunit family
  2. NM_006019.4NP_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)
    AP002807
    Consensus CDS
    CCDS8177.1
    UniProtKB/Swiss-Prot
    Q13488
    UniProtKB/TrEMBL
    A0A024R5E5
    Related
    ENSP00000265686.3, ENST00000265686.8
    Conserved Domains (1) summary
    pfam01496
    Location:27825
    V_ATPase_I; V-type ATPase 116kDa subunit family
  3. 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
    ENSP00000434407.1, ENST00000532635.5
    Conserved Domains (1) summary
    pfam01496
    Location:3609
    V_ATPase_I; V-type ATPase 116kDa subunit family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    68039000..68053846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448324.1XP_024304092.1  V-type proton ATPase 116 kDa subunit a isoform X3

    Conserved Domains (2) summary
    pfam04592
    Location:357400
    SelP_N; Selenoprotein P, N terminal region
    cl27549
    Location:27238
    V_ATPase_I; V-type ATPase 116kDa subunit family
  2. XM_024448323.1XP_024304091.1  V-type proton ATPase 116 kDa subunit a isoform X2

    Conserved Domains (2) summary
    pfam04592
    Location:357400
    SelP_N; Selenoprotein P, N terminal region
    cl27549
    Location:541836
    V_ATPase_I; V-type ATPase 116kDa subunit family
  3. XM_024448320.1XP_024304088.1  V-type proton ATPase 116 kDa subunit a isoform X1

    Conserved Domains (2) summary
    pfam04592
    Location:357400
    SelP_N; Selenoprotein P, N terminal region
    cl27549
    Location:541856
    V_ATPase_I; V-type ATPase 116kDa subunit family
  4. XM_024448321.1XP_024304089.1  V-type proton ATPase 116 kDa subunit a isoform X1

    Conserved Domains (2) summary
    pfam04592
    Location:357400
    SelP_N; Selenoprotein P, N terminal region
    cl27549
    Location:541856
    V_ATPase_I; V-type ATPase 116kDa subunit family
  5. XM_024448322.1XP_024304090.1  V-type proton ATPase 116 kDa subunit a isoform X1

    Conserved Domains (2) summary
    pfam04592
    Location:357400
    SelP_N; Selenoprotein P, N terminal region
    cl27549
    Location:541856
    V_ATPase_I; V-type ATPase 116kDa subunit family

RNA

  1. XR_001747721.2 RNA Sequence

  2. XR_002957115.1 RNA Sequence

  3. XR_001747723.2 RNA Sequence

  4. XR_001747722.1 RNA Sequence

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