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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, Vpp-3, Vpp3
  • Feature Type
    protein coding gene
  • IDs
    MGI:103285
    NCBI Gene: 110935
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:83719999-83735837 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 35.94 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    484 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103285
 protein coding gene Chr6:83719972-83735837 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030938
 protein coding gene Chr6:84774404-84792413 (+)
A/J MGP_AJ_G0030907
 protein coding gene Chr6:81548361-81564221 (+)
AKR/J MGP_AKRJ_G0030835
 protein coding gene Chr6:83907130-83924824 (+)
BALB/cJ MGP_BALBcJ_G0030917
 protein coding gene Chr6:81571219-81591063 (+)
C3H/HeJ MGP_C3HHeJ_G0030793
 protein coding gene Chr6:100483253-100499113 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031377
 protein coding gene Chr6:87119258-87138243 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028563
 protein coding gene Chr6:79910416-79926547 (+)
CAST/EiJ MGP_CASTEiJ_G0030026
 protein coding gene Chr6:83931596-83950451 (+)
CBA/J MGP_CBAJ_G0030604
 protein coding gene Chr6:90541731-90557529 (+)
DBA/2J MGP_DBA2J_G0030757
 protein coding gene Chr6:80860326-80876472 (+)
FVB/NJ MGP_FVBNJ_G0030710
 protein coding gene Chr6:80072901-80088804 (+)
LP/J MGP_LPJ_G0030836
 protein coding gene Chr6:84774790-84795566 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030746
 protein coding gene Chr6:94807137-94823050 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031401
 protein coding gene Chr6:83739132-83755004 (+)
PWK/PhJ MGP_PWKPhJ_G0029741
 protein coding gene Chr6:79777927-79793950 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029569
 protein coding gene Chr6:82559293-82575217 (+)
WSB/EiJ MGP_WSBEiJ_G0030107
 protein coding gene Chr6:84153846-84171397 (+)



Homology
more
  • Human Ortholog
    ATP6V1B1, ATPase H+ transporting V1 subunit B1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP6V1B1, ATPase H+ transporting V1 subunit B1
  • Synonyms
    ATP6B1, DRTA2, RTA1B, VATB, VMA2, VPP3
  • Links
    NCBI Gene ID: 525
    neXtProt AC: NX_P15313
    UniProt: P15313

  • Chr Location
    2p13.3; chr2:70935900-70965431 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Atp6v1b1 mouse models; 1 with human ATP6V1B1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
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
    32 phenotypes from 3 alleles in 5 genetic backgrounds
    30 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    59
  • GO References
    22
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1218
  • Tissues
    238
  • cDNA Data
    21
  • Literature Summary
    28
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 110935 NCBI Gene Model | MGI Sequence Detail 15839 C57BL/6J ±  kb
    transcript NM_134157 RefSeq | MGI Sequence Detail 1986 ZRU/MplStud  
    polypeptide Q91YH6 UniProt | EBI | MGI Sequence Detail 513 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000004481 V-type proton ATPase subunit B, kidney isoform
      (term hierarchy)
    • InterPro Domains
      IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active site
      IPR004100 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain
      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
    less
    • All nucleic 30
      cDNA 24
      Primer pair 5
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15406, MGD-MRK-15408, MGD-MRK-24166, MGI:2141662, MGI:2445065
    References
    more
    • Summaries
      All 99
      Developmental Gene Expression 28
      Diseases 1
      Gene Ontology 22
      Phenotypes 30
    • 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 (Abstr.)
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory