Atp6v0a4
Gene Detail

Symbol Name ID

Atp6v0a4 ATPase, H+ transporting, lysosomal V0 subunit A4 MGI:2153480

Synonyms

Atp6n1b, V-ATPase alpha 4

Feature Type

protein coding gene

Genetic Map

Chromosome 6

17.50 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr6:38048483-38124586 bp, - strand From VEGA annotation of GRCm38   76104 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:39904  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: V-type proton ATPase 116 kda subunit a isoform 1
Gene Tree: Atp6v0a4

Human homologs

Human Homolog		ATP6V0A4, ATPase, H+ transporting, lysosomal V0 subunit A4
NCBI Gene ID		50617
neXtProt AC		NX_Q9HBG4
Human Synonyms		A4, ATP6N1B, ATP6N2, RDRTA2, RTA1C, RTADR, STV1, VPH1, VPP2
Human Chr (Location)		7q34; chr7:138391039-138482941 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ATP6V0A4

Alleles and phenotypes

All alleles(5) : Targeted(3) Gene trapped(2)
 

Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction.

 
Human Diseases Modeled Using Mouse Atp6v0a4 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (28 annotations)

Process	ATP hydrolysis coupled proton transport, excretion, ...
Component	apical part of cell, apical plasma membrane, ...
Function	ATPase binding, hydrogen-exporting ATPase activity, phosphorylative mechanism, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (8 records)
Data Summary: Results (212)    Tissues (131)    Images (34)
Theiler Stages: 10, 18, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	27
RNA in situ	109
Northern blot	12
Western blot	22
RT-PCR	42

cDNA source data(36)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(42) cDNA(37) Primer pair(5)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000022440 (Evidence)
Ensembl Gene Model	ENSMUSG00000038600 (Evidence)
Entrez Gene	140494 (Evidence)
UniGene	462308
DFCI	TC1584967
DoTS	DT.87036495, DT.94258335, DT.97406019
Consensus CDS Project	CCDS20010.1
International Mouse Knockout Project Status	Atp6v0a4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000022440	VEGA Gene Model | MGI Sequence Detail	76104	C57BL/6J
transcript	OTTMUST00000053645	VEGA | MGI Sequence Detail	3285	Not Applicable
polypeptide	OTTMUSP00000025517	VEGA | MGI Sequence Detail	833	Not Applicable

All sequences(39) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(493 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:000004473	V-type proton ATPase 116 kDa subunit a isoform 4

References

(Earliest) J:72365 Oka T, et al., a4, a unique kidney-specific isoform of mouse vacuolar H+-ATPase subunit a. J Biol Chem. 2001 Oct 26;276(43):40050-4
(Latest) J:189624 Son EJ, et al., Developmental gene expression profiling along the tonotopic axis of the mouse cochlea. PLoS One. 2012;7(7):e40735
All references(39)