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Atp6v0a1 Gene Detail
Summary
  • Symbol
    Atp6v0a1
  • Name
    ATPase, H+ transporting, lysosomal V0 subunit A1
  • Synonyms
    Atp6n1, Atp6n1a, V-ATPase a1, Vpp-1, Vpp1
  • Feature Type
    protein coding gene
  • IDs
    MGI:103286
    NCBI Gene: 11975
  • Alliance
    gene page
  • Transcription Start Sites
    31 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:100900278-100954545 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 64.04 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1354 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103286
 protein coding gene Chr11:100899262-100954545 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019175
 protein coding gene Chr11:103819008-103874037 (+)
A/J MGP_AJ_G0019143
 protein coding gene Chr11:99466853-99521038 (+)
AKR/J MGP_AKRJ_G0019112
 protein coding gene Chr11:102564029-102618035 (+)
BALB/cJ MGP_BALBcJ_G0019117
 protein coding gene Chr11:99960311-100015481 (+)
C3H/HeJ MGP_C3HHeJ_G0018926
 protein coding gene Chr11:102733477-102788134 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019566
 protein coding gene Chr11:107019992-107075815 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017192
 protein coding gene Chr11:96883234-96938564 (+)
CAST/EiJ MGP_CASTEiJ_G0018480
 protein coding gene Chr11:103717316-103774646 (+)
CBA/J MGP_CBAJ_G0018895
 protein coding gene Chr11:111494109-111553787 (+)
DBA/2J MGP_DBA2J_G0019007
 protein coding gene Chr11:99001228-99056037 (+)
FVB/NJ MGP_FVBNJ_G0018997
 protein coding gene Chr11:98542574-98598288 (+)
LP/J MGP_LPJ_G0019076
 protein coding gene Chr11:104366819-104423338 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019028
 protein coding gene Chr11:111066605-111122058 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019604
 protein coding gene Chr11:102880784-102936346 (+)
PWK/PhJ MGP_PWKPhJ_G0018243
 protein coding gene Chr11:100051288-100106605 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018035
 protein coding gene Chr11:102616360-102672633 (+)
WSB/EiJ MGP_WSBEiJ_G0018529
 protein coding gene Chr11:102879369-102934188 (+)



Homology
more
  • Human Ortholog
    ATP6V0A1, ATPase H+ transporting V0 subunit a1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP6V0A1, ATPase H+ transporting V0 subunit a1
  • Synonyms
    a1, ATP6N1, ATP6N1A, DEE104, NEDEBA, Stv1, Vph1, VPP1
  • Links
    NCBI Gene ID: 535
    neXtProt AC: NX_Q93050
    UniProt: Q93050

  • Chr Location
    17q21.2; chr17:42458844-42522582 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ATP6V0A1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 4 alleles in 2 genetic backgrounds
    21 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 null allele die before gastrulation. Mice with a p.A512P variant show postnatal lethality with decreased brain size, increased neuronal cell death, ataxia, accumulation of lysosomes and autophagosomes in cortical and pyramidal neurons, and reduced synaptic connectivity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    12
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
    844
  • Tissues
    116
  • cDNA Data
    18
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019302 Ensembl Gene Model | MGI Sequence Detail 54268 C57BL/6J ±  kb
    transcript ENSMUST00000103110 Ensembl | MGI Sequence Detail 2716 Not Applicable  
    polypeptide ENSMUSP00000099399 Ensembl | MGI Sequence Detail 839 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      Genomic 8
      cDNA 21
      Primer pair 5
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-15405, MGD-MRK-15407, MGD-MRK-24167, MGI:2144053
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 9
      Gene Ontology 12
      Phenotypes 21
    • 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