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Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 [ Mus musculus (house mouse) ]

Gene ID: 27060, updated on 18-Apr-2024

Summary

Official Symbol
Tcirg1provided by MGI
Official Full Name
T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3provided by MGI
Primary source
MGI:MGI:1350931
See related
Ensembl:ENSMUSG00000001750 AllianceGenome:MGI:1350931
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
oc; Stv1; Vph1; Atp6i; OPTB1; TIRC7; ATP6a3; OC-116; ATP6N1C
Summary
Predicted to enable ATPase binding activity. Acts upstream of or within several processes, including T cell activation; animal organ development; and cellular cation homeostasis. Located in several cellular components, including cytoplasmic vesicle; lysosome; and nucleus. Is expressed in several structures, including ciliary body; future brain; hemolymphoid system gland; metanephros; and optic choroid plus pigmented retinal epithelium. Used to study autosomal recessive osteopetrosis 1 and clubfoot. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 1. Orthologous to human TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen adult (RPKM 61.8), adrenal adult (RPKM 46.6) and 27 other tissues See more
Orthologs
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Genomic context

Location:
19 A; 19 3.62 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (3946050..3957717, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (3896050..3907133, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr19:3851584-3851885 Neighboring gene microRNA 12192 Neighboring gene choline kinase alpha Neighboring gene STARR-seq mESC enhancer starr_45333 Neighboring gene STARR-seq mESC enhancer starr_45334 Neighboring gene STARR-positive B cell enhancer ABC_E9987 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S8 Neighboring gene aldehyde dehydrogenase 3 family, member B1 Neighboring gene predicted gene, 42059

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1)  1 citation
  • Spontaneous (1) 
  • Endonuclease-mediated (3) 
  • Targeted (6)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATPase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within B cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within T cell homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within T-helper 1 cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within bone resorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cellular response to cytokine stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within dentin mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within enamel mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment of cell polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment of vesicle localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within hematopoietic stem cell homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within homeostasis of number of cells IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within immunoglobulin mediated immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within immunoglobulin production IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intracellular calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intracellular pH reduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within memory T cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within myeloid cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within odontogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within optic nerve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within osteoclast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within osteoclast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within pH reduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within phagosome acidification IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein catabolic process in the vacuole IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein localization to organelle IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of proton transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to silver ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within ruffle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within tooth eruption IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within type II interferon production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vacuolar acidification IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in late endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion HDA PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in phagocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in phagocytic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in secretory granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of vacuolar proton-transporting V-type ATPase complex IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
V-type proton ATPase 116 kDa subunit a 3
Names
ATPase, H+ transporting, lysosomal I
V-ATPase a3
osteosclerotic
NP_001129563.1
NP_001161256.1
NP_058617.3
XP_011246934.1

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.

mRNA and Protein(s)

  1. NM_001136091.2NP_001129563.1  V-type proton ATPase 116 kDa subunit a 3

    See identical proteins and their annotated locations for NP_001129563.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. All three variants encode the same protein.
    Source sequence(s)
    AB022322, BE987533, CJ057829
    Consensus CDS
    CCDS29401.1
    UniProtKB/TrEMBL
    Q91W06, Q9JHF5, Q9JL12
    Related
    ENSMUSP00000001801.5, ENSMUST00000001801.11
    Conserved Domains (2) summary
    COG1269
    Location:27829
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
    pfam01496
    Location:28829
    V_ATPase_I; V-type ATPase 116kDa subunit family
  2. NM_001167784.1NP_001161256.1  V-type proton ATPase 116 kDa subunit a 3

    See identical proteins and their annotated locations for NP_001161256.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AB022322, AC133523, BE987533
    Consensus CDS
    CCDS29401.1
    UniProtKB/TrEMBL
    Q91W06, Q9JHF5, Q9JL12
    Related
    ENSMUSP00000120531.3, ENSMUST00000126070.9
    Conserved Domains (2) summary
    COG1269
    Location:27829
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
    pfam01496
    Location:28829
    V_ATPase_I; V-type ATPase 116kDa subunit family
  3. NM_016921.3NP_058617.3  V-type proton ATPase 116 kDa subunit a 3

    See identical proteins and their annotated locations for NP_058617.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. All three variants encode the same protein.
    Source sequence(s)
    AB022322, AC133523, BE987533
    Consensus CDS
    CCDS29401.1
    UniProtKB/TrEMBL
    Q91W06, Q9JHF5, Q9JL12
    Related
    ENSMUSP00000122474.2, ENSMUST00000145791.8
    Conserved Domains (2) summary
    COG1269
    Location:27829
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
    pfam01496
    Location:28829
    V_ATPase_I; V-type ATPase 116kDa subunit family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    3946050..3957717 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011248632.2XP_011246934.1  V-type proton ATPase 116 kDa subunit a 3 isoform X1

    UniProtKB/TrEMBL
    Q91W06, Q9JL12
    Conserved Domains (1) summary
    pfam01496
    Location:27680
    V_ATPase_I; V-type ATPase 116kDa subunit family