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Atp6v1b1
Gene Detail
 Symbol
Name
ID
Atp6v1b1
ATPase, H+ transporting, lysosomal V1 subunit B1
MGI:103285
Synonyms Atp6b1, D630030L16Rik, D630039P21Rik, lysosomal 56/58kDa, Vpp3, Vpp-3
Feature Type protein coding gene
Genetic Map
Chromosome 6
35.94 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr6:83743017-83758809 bp, + strand
From Ensembl annotation of GRCm38

  15793 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68198  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Atp6v1b1

Human
homologs
Human Homolog ATP6V1B1, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
NCBI Gene ID 525
neXtProt AC  NX_P15313
Human Synonyms  ATP6B1, RTA1B, VATB, VMA2, VPP3
Human Chr (Location)  2p13.1; chr2:70935868-70965431 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ATP6V1B1
Alleles
and
phenotypes
All alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a targeted mutation show impaired urinary acidification with a more severe metabolic acidosis and inappropriately alkaline urine after oral acid challenge. However, contrary to expectation, neither hearing nor inner ear morphology are impaired.
 
Gene Ontology
(GO)
classifications
All GO classifications: (34 annotations)
Process calcium ion homeostasis, excretion, ...
Component apical plasma membrane, basolateral plasma membrane, ...
Function hydrogen ion transmembrane transporter activity, protein complex binding
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (475)    Tissues (224)    Images (42)
Theiler Stages: 10, 18, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 2
RNA in situ 447
Western blot 8
RT-PCR 18
cDNA source data(18)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(26) cDNA(21) Primer pair(4) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000006269 (Evidence)
Entrez Gene110935 (Evidence)
DFCITC1578552, TC1587449
DoTSDT.101724076, DT.483355
NIA Mouse Gene IndexU007086
Consensus CDS ProjectCCDS20283.1
International Mouse Knockout Project StatusAtp6v1b1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000006269 Ensembl Gene Model | MGI Sequence Detail 15793 C57BL/6J ±  kb
transcript ENSMUST00000006431 Ensembl | MGI Sequence Detail 1926 Not Applicable 
polypeptide ENSMUSP00000006431 Ensembl | MGI Sequence Detail 513 Not Applicable 

For the selected sequences
All sequences(32) RefSeq(2) UniProt(5)
Polymorphisms PCR(2) : SNPs within 2kb(120 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004100 ATPase, alpha/beta subunit, N-terminal
InterPro IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active site
InterPro IPR000793 ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal
InterPro IPR000194 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain
InterPro IPR005723 ATPase, V1 complex, subunit B
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR022879 V-type ATP synthase regulatory subunit B/beta
Protein Ontology PR:000004481 V-type proton ATPase subunit B, kidney isoform
References (Earliest) J:14957 Ozcelik T, et al., Chromosomal assignments of genes for vacuolar (endomembrane) proton pump subunits VPP1/Vpp-1(116 kDa) and VPP3/Vpp-3(58 kDa) in human and mouse. Cytogenet Cell Genet. 1991;58:2008-9
(Latest) J:204005 Gueutin V, et al., Renal beta-intercalated cells maintain body fluid and electrolyte balance. J Clin Invest. 2013 Oct 1;123(10):4219-31
All references(65)
Other
accession IDs
MGD-MRK-15406, MGD-MRK-15408, MGD-MRK-24166, MGI:2141662, MGI:2445065

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory