Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 10312, updated on 8-Jul-2021

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TCIRG1 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (68039000..68053846)
    105.20201022 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?

    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 transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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 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 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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane HDA PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of vacuolar proton-transporting V-type ATPase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of 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 a3
    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 a3
    V-ATPase 116-kDa
    V-ATPase subunit a3
    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_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)

    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 a3 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 a3 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_006053.4NP_006044.1  V-type proton ATPase 116 kDa subunit a3 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 Updated Annotation Release 109.20210514

    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 a3 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 a3 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 a3 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 a3 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 a3 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

    Support Center