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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; 1 western clawed frog

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; chr7:138706294-138799560 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ATP6V0A4
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(1) Gene trapped(2) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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)    Phenotype Images(3)
Interactions
Atp6v0a4 interacts with 148 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process ATP catabolic process, ATP hydrolysis coupled proton transport, ...
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 (132)    Images (34)
Theiler Stages: 10, 18, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 27
RNA in situ 109
Northern blot 12
Western blot 22
RT-PCR 42
cDNA source data(36)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(42) cDNA(37) Primer pair(5)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000022440 (Evidence)
Ensembl Gene ModelENSMUSG00000038600 (Evidence)
Entrez Gene140494 (Evidence)
UniGene462308
DFCITC1584967
DoTSDT.87036495, DT.94258335, DT.97406019
Consensus CDS ProjectCCDS20010.1
International Mouse Knockout Project StatusAtp6v0a4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022440 VEGA Gene Model | MGI Sequence Detail 76104 C57BL/6J ±  kb
transcript OTTMUST00000053645 VEGA | MGI Sequence Detail 3285 Not Applicable 
polypeptide OTTMUSP00000025517 VEGA | MGI Sequence Detail 833 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(2) UniProt(4)
Polymorphisms SNPs within 2kb(632 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: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:193541 Lorente-Canovas B, et al., Mice deficient in the H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear. Dis Model Mech. 2012 Dec 5;
All references(41)
Disease annotation references (2)

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
08/26/2014
MGI 5.19
The Jackson Laboratory