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Tcirg1
Gene Detail
Symbol

Name
ID
Tcirg1
T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3
MGI:1350931
Synonyms
ATP6a3, Atp6i, OC-116, TIRC7, V-ATPase a3
Feature Type
protein coding gene
Genetic Map
Chromosome 19
3.62 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr19:3896050-3907133 bp, - strand
From VEGA annotation of GRCm38

  11084 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4392  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 3 zebrafish

Protein SuperFamily: V-type proton ATPase 116 kda subunit a isoform 1
Gene Tree: Tcirg1

Human
homologs
Human Homolog TCIRG1, T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
NCBI Gene ID 10312
neXtProt AC  NX_Q13488
Human Synonyms  a3, Atp6i, ATP6N1C, ATP6V0A3, OC116, OC-116kDa, OPTB1, Stv1, TIRC7, Vph1
Human Chr (Location)  11q13.2; chr11:68038995-68053839 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human TCIRG1
Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Chemically induced (ENU)(1) Gene trapped(5) Spontaneous(1) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for mutant alleles exhibit severe osteopetrosis with increased bone density due to failure of secondary bone resorption. Mutants lack teeth and die around 30-40 days of age.
 
Human Diseases Modeled Using Mouse Tcirg1 (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)
Interactions
Tcirg1 interacts with 250 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (7 records)
Data Summary: Results (142)    Tissues (113)    Images (18)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 13
RNA in situ 94
Northern blot 16
Western blot 7
RT-PCR 12
cDNA source data(85)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(87) cDNA(86) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000033070 (Evidence)
Ensembl Gene ModelENSMUSG00000001750 (Evidence)
Entrez Gene27060 (Evidence)
UniGene271689
DFCITC1601873, TC1576844
DoTSDT.110867564, DT.94223042, DT.94223027, DT.94223038, DT.87059727, DT.94223024
NIA Mouse Gene IndexU108131
Consensus CDS ProjectCCDS29401.1
International Mouse Knockout Project StatusTcirg1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033070 VEGA Gene Model | MGI Sequence Detail 11084 C57BL/6J ±  kb
transcript OTTMUST00000082591 VEGA | MGI Sequence Detail 2729 Not Applicable 
polypeptide OTTMUSP00000044285 VEGA | MGI Sequence Detail 834 Not Applicable 

For the selected sequences
All sequences(95) RefSeq(6) UniProt(16)
Polymorphisms
SNPs within 2kb(52 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002490 ATPase, V0 complex, subunit 116kDa
InterPro IPR026028 ATPase, V0 complex, subunit 116kDa, eukaryotic
Protein Ontology PR:000016192 V-type proton ATPase 116 kDa subunit a isoform 3
References
(Earliest) J:28464 Dickie MM, Osteosclerotic (oc). Mouse News Lett. 1967;36:39
(Latest) J:199937 Jiang H, et al., RNAi-mediated silencing of Atp6i and Atp6i haploinsufficiency prevents both bone loss and inflammation in a mouse model of periodontal disease. PLoS One. 2013;8(4):e58599
All references(77)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-12970, MGI:97398

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory