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; chr2:71162998-71192561 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ATP6V1B1

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

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: (10 records)
Data Summary: Results (466)    Tissues (216)    Images (41)
Theiler Stages: 10, 18, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	2
RNA in situ	438
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 Model	ENSMUSG00000006269 (Evidence)
Entrez Gene	110935 (Evidence)
DFCI	TC1578552, TC1587449
DoTS	DT.101724076, DT.483355
NIA Mouse Gene Index	U007086
Consensus CDS Project	CCDS20283.1
International Mouse Knockout Project Status	Atp6v1b1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000006269	Ensembl Gene Model | MGI Sequence Detail	15793	C57BL/6J
transcript	ENSMUST00000006431	Ensembl | MGI Sequence Detail	1926	Not Applicable
polypeptide	ENSMUSP00000006431	Ensembl | MGI Sequence Detail	513	Not Applicable

All sequences(32) RefSeq(2) UniProt(5)

Polymorphisms

PCR(2) : SNPs(90 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	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:193274 Vedovelli L, et al., Altered V-ATPase expression in renal intercalated cells isolated from B1 subunit-deficient mice by fluorescence-activated cell sorting. Am J Physiol Renal Physiol. 2013 Mar;304(5):F522-32
All references(60)

Other accession IDs

MGD-MRK-15406, MGD-MRK-15408, MGD-MRK-24166, MGI:2141662, MGI:2445065