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

    Gene ID: 10312, updated on 5-Aug-2022

    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; AllianceGenome:HGNC:11647
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TCIRG1 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68039025..68053762)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68042666..68054536)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67806492..67818362)

    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 CHKA divergent transcript 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T-helper 1 cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in autophagosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to cytokine stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dentin mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in enamel mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of vesicle localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immunoglobulin mediated immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosomal lumen acidification IC
    Inferred by Curator
    more info
    PubMed 
    involved_in macroautophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in memory T cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in optic nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoclast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pH reduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phagosome acidification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein catabolic process in the vacuole ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to organelle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proton transmembrane transport IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of proton transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to silver ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ruffle organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tooth eruption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vacuolar acidification IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in vacuolar acidification IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    Preferred Names
    V-type proton ATPase 116 kDa subunit a 3
    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 subunit a 3
    V-ATPase 116 kDa subunit a3
    V-ATPase 116-kDa
    V-ATPase subunit a3
    V-type proton ATPase 116 kDa subunit a
    V-type proton ATPase 116 kDa subunit a3
    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_047282193.1
    XP_047282194.1
    XP_047282195.1
    XP_047282196.1
    XP_047282197.1
    XP_047282198.1
    XP_047282199.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 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 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, Q8WVC5
      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_006053.4NP_006044.1  V-type proton ATPase 116 kDa subunit a 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)
      AP002807
      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 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      68039025..68053762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426238.1XP_047282194.1  V-type proton ATPase 116 kDa subunit a 3 isoform X2

      UniProtKB/Swiss-Prot
      Q8WVC5
    2. XM_047426243.1XP_047282199.1  V-type proton ATPase 116 kDa subunit a 3 isoform X6

    3. XM_047426237.1XP_047282193.1  V-type proton ATPase 116 kDa subunit a 3 isoform X1

    4. XM_047426239.1XP_047282195.1  V-type proton ATPase 116 kDa subunit a 3 isoform X2

      UniProtKB/Swiss-Prot
      Q8WVC5
    5. XM_047426240.1XP_047282196.1  V-type proton ATPase 116 kDa subunit a 3 isoform X3

    6. XM_047426241.1XP_047282197.1  V-type proton ATPase 116 kDa subunit a 3 isoform X4

    7. XM_047426242.1XP_047282198.1  V-type proton ATPase 116 kDa subunit a 3 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      68042666..68054536
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)