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Atp6v1b1 Gene Detail
Summary
  • Symbol
    Atp6v1b1
  • Name
    ATPase, H+ transporting, lysosomal V1 subunit B1
  • Synonyms
    Atp6b1, D630030L16Rik, D630039P21Rik, lysosomal 56/58kDa, Vpp3, Vpp-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:103285
    NCBI Gene: 110935
Location & Maps
more
  • Sequence Map
    Chr6:83743017-83758809 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15793 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ATP6V1B1, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ATP6V1B1, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ATP6B1, RTA1B, VATB, VMA2, VPP3
  • Links
    NCBI Gene ID: 525
    neXtProt AC: NX_P15313

  • Chr Location
    2p13.1; chr2:70935868-70965431 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Atp6v1b1 mouse models; 1 with human ATP6V1B1 associations

Human Disease Mouse Models
       Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness   OMIM: 267300 View 1 "NOT" model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 2 genetic backgrounds
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Spontaneous
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Atp6v1b1
  • Incidental Mutations
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 areimpaired.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    120 from dbSNP Build 137
  • PCR
Protein
Information
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  • UniProt
    5 Sequences
  • InterPro Domains
    IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active site
    IPR004100 ATPase, F1 complex alpha/beta subunit, N-terminal domain
    IPR000793 ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal
    IPR000194 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain
    IPR005723 ATPase, V1 complex, subunit B
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR022879 V-type ATP synthase regulatory subunit B/beta
Molecular
Reagents
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  • All nucleic 26
    cDNA 21
    Primer pair 4
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-15406, MGD-MRK-15408, MGD-MRK-24166, MGI:2141662, MGI:2445065
References
more
  • Summaries
    All 60
    Developmental Gene Expression 15
    Diseases 1
    Gene Ontology 11
    Phenotypes 15
  • 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:216308 Ruan YC, et al., CFTR interacts with ZO-1 to regulate tight junction assembly and epithelial differentiation through the ZONAB pathway. J Cell Sci. 2014 Oct 15;127(Pt 20):4396-408

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
02/02/2016
MGI 6.02
The Jackson Laboratory