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

Gene ID: 10312, updated on 27-Jun-2020

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
109.20200522 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 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
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 
transporter activity TAS
Traceable Author Statement
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
 
autophagosome assembly 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
 
establishment of cell polarity IEA
Inferred from Electronic Annotation
more info
 
establishment of vesicle localization 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
 
protein localization to organelle IEA
Inferred from Electronic Annotation
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
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
 
ruffle organization 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 a3; 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 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 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_006053.3NP_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)
    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 Updated 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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