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; 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; chr11:67806462-67818366 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human TCIRG1

Alleles and phenotypes

All alleles(14) : Targeted(8) Gene trapped(5) Spontaneous(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (3 annotations)

Component

apical plasma membrane, mitochondrion, ...

External Resources: FuncBase

Expression

Literature Summary: (7 records)
Data Summary: Results (142)    Tissues (113)    Images (18)
Theiler Stages: 10, 18, 22, 23, 25, 28

Assay Type	Results
Immunohistochemistry	13
RNA in situ	94
Northern blot	16
Western blot	7
RT-PCR	12

cDNA source data(85)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(87) cDNA(86) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000033070 (Evidence)
Ensembl Gene Model	ENSMUSG00000001750 (Evidence)
Entrez Gene	27060 (Evidence)
UniGene	271689
DFCI	TC1576844, TC1601873
DoTS	DT.110867564, DT.87059727, DT.94223024, DT.94223027, DT.94223038, DT.94223042
NIA Mouse Gene Index	U108131
Consensus CDS Project	CCDS29401.1
International Mouse Knockout Project Status	Tcirg1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000033070	VEGA Gene Model | MGI Sequence Detail	11084	C57BL/6J
transcript	OTTMUST00000082591	VEGA | MGI Sequence Detail	2729	Not Applicable
polypeptide	OTTMUSP00000044285	VEGA | MGI Sequence Detail	834	Not Applicable

All sequences(87) RefSeq(6) UniProt(8)

Polymorphisms

SNPs(39 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002490	ATPase, V0/A0 complex subunit a
InterPro	IPR026028	V-type proton ATPase subunit a
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:193881 Koehne T, et al., Osteopetrosis, osteopetrorickets and hypophosphatemic rickets differentially affect dentin and enamel mineralization. Bone. 2013 Mar;53(1):25-33
All references(73)

Other accession IDs

MGD-MRK-12970, MGI:97398