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Atp6v0a4 Gene Detail
Summary
  • Symbol
    Atp6v0a4
  • Name
    ATPase, H+ transporting, lysosomal V0 subunit A4
  • Synonyms
    Atp6n1b, V-ATPase alpha 4
  • Feature Type
    protein coding gene
  • IDs
    MGI:2153480
    NCBI Gene: 140494
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:38025418-38101521 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 17.50 cM, cytoband B1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    2152 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2153480
 protein coding gene Chr6:38025418-38101521 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030580
 protein coding gene Chr6:36316724-36399787 (-)
A/J MGP_AJ_G0030553
 protein coding gene Chr6:34754279-34831554 (-)
AKR/J MGP_AKRJ_G0030480
 protein coding gene Chr6:35860988-35942260 (-)
BALB/cJ MGP_BALBcJ_G0030563
 protein coding gene Chr6:34943987-35020269 (-)
C3H/HeJ MGP_C3HHeJ_G0030276
 protein coding gene Chr6:35865295-35944624 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031017
 protein coding gene Chr6:37234428-37318652 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028229
 protein coding gene Chr6:32669229-32742088 (-)
CAST/EiJ MGP_CASTEiJ_G0029678
 protein coding gene Chr6:35754285-35836698 (-)
CBA/J MGP_CBAJ_G0030254
 protein coding gene Chr6:38660446-38745353 (-)
DBA/2J MGP_DBA2J_G0030398
 protein coding gene Chr6:34574492-34651730 (-)
FVB/NJ MGP_FVBNJ_G0030352
 protein coding gene Chr6:34362654-34439781 (-)
LP/J MGP_LPJ_G0030485
 protein coding gene Chr6:36376577-36461258 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030388
 protein coding gene Chr6:41043427-41125129 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031047
 protein coding gene Chr6:35777692-35861594 (-)
PWK/PhJ MGP_PWKPhJ_G0029392
 protein coding gene Chr6:34222102-34299888 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029228
 protein coding gene Chr6:35502614-35581553 (-)
WSB/EiJ MGP_WSBEiJ_G0029754
 protein coding gene Chr6:35723001-35805739 (-)



Homology
more
  • Human Ortholog
    ATP6V0A4, ATPase H+ transporting V0 subunit a4
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP6V0A4, ATPase H+ transporting V0 subunit a4
  • Synonyms
    A4, ATP6N1B, ATP6N2, DRTA3, RDRTA2, RTA1C, RTADR, STV1, VPH1, VPP2
  • Links
    NCBI Gene ID: 50617
    neXtProt AC: NX_Q9HBG4
    UniProt: Q9HBG4

  • Chr Location
    7q34; chr7:138706294-138799560 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Atp6v0a4 mouse models; 1 with human ATP6V0A4 associations

Human Disease Mouse Models
      
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
    34 phenotypes from 3 alleles in 3 genetic backgrounds
    3 images
    13 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 mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    13
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
    1207
  • Tissues
    200
  • cDNA Data
    38
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 140494 NCBI Gene Model | MGI Sequence Detail 76104 C57BL/6J ±  kb
    transcript NM_080467 RefSeq | MGI Sequence Detail 3300 C57BL/6  
    polypeptide Q920R6 UniProt | EBI | MGI Sequence Detail 833 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000004473 V-type proton ATPase 116 kDa subunit a 4
      (term hierarchy)
    • InterPro Domains
      IPR026028 ATPase, V0 complex, subunit 116kDa, eukaryotic
      IPR002490 V-type ATPase, V0 complex, 116kDa subunit family
    Molecular
    Reagents
    less
    • All nucleic 45
      cDNA 39
      Primer pair 6

      Microarray probesets 2
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 16
      Diseases 1
      Gene Ontology 13
      Phenotypes 13
    • Earliest
      J:72365 Oka T, et al., a4, a unique kidney-specific isoform of mouse vacuolar H+-ATPase subunit a. J Biol Chem. 2001 Oct 26;276(43):40050-4
    • Latest
      J:350264 Yano-Sakamoto K, et al., Expression pattern of Runt-related transcription factor (RUNX) family members and the role of RUNX1 during kidney development. Biochem Biophys Res Commun. 2024 Aug 30;722:150155
    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)
    Citing These Resources
    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