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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
  • Gene Overview
    MyGene.info: ATP6V1B1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:83743017-83758810 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 35.94 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    120 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103285
protein coding gene Chr6:83742990-83758855 (.)
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
    9
  • Human Ortholog
    ATP6V1B1, ATPase H+ transporting V1 subunit B1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATP6B1, RTA1B, VATB, VMA2, VPP3
  • Links
    NCBI Gene ID: 525
    neXtProt AC: NX_P15313
    UniProt: P15313

  • Chr Location
    2p13.3; chr2:70935868-70965431 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Atp6v1b1 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 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
    31 phenotypes from 2 alleles in 4 genetic backgrounds
    17 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 110935 NCBI Gene Model | MGI Sequence Detail 15794 C57BL/6J ±  kb
    transcript NM_134157 RefSeq | MGI Sequence Detail 1986 C57BL/6  
    polypeptide NP_598918 RefSeq | MGI Sequence Detail 513 C57BL/6  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • 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 28
      cDNA 23
      Primer pair 4
      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 72
      Developmental Gene Expression 20
      Diseases 1
      Gene Ontology 11
      Phenotypes 17
    • 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:249938 Werth M, et al., Transcription factor TFCP2L1 patterns cells in the mouse kidney collecting ducts. Elife. 2017 Jun 3;6

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory