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Atp6v1h Gene Detail
Summary
  • Symbol
    Atp6v1h
  • Name
    ATPase, H+ transporting, lysosomal V1 subunit H
  • Synonyms
    0710001F19Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914864
    NCBI Gene: 108664
  • Alliance
    genome feature page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:5153201-5233438 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 1.85 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1450 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914864
 protein coding gene Chr1:5140241-5233438 (+)
129S1/SvImJ ENSMUSG00200002608
 protein coding gene Chr1:2555630-2640870 (+)
A/J ENSMUSG00195002545
 protein coding gene Chr1:2349898-2436700 (+)
AKR/J ENSMUSG00220003138
 protein coding gene Chr1:2456807-2542032 (+)
BALB/cJ ENSMUSG00180008832
 protein coding gene Chr1:2419648-2506445 (+)
C3H/HeJ ENSMUSG00175000286
 protein coding gene Chr1:2291774-2374879 (+)
C57BL/6NJ ENSMUSG00215004107
 protein coding gene Chr1:2326576-2419702 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0013927
 protein coding gene Chr1:1833965-1908662 (+)
CAST/EiJ ENSTCUG00005001787
 protein coding gene Chr1:2702566-2787151 (+)
CBA/J ENSMUSG00210001807
 protein coding gene Chr1:2215670-2298769 (+)
DBA/2J ENSMUSG00185004271
 protein coding gene Chr1:3265989-3366531 (+)
FVB/NJ ENSMUSG00205004541
 protein coding gene Chr1:2485483-2572260 (+)
JF1/MsJ ENSUMUG00000003369
 protein coding gene Chr1:2531835-2615377 (+)
LP/J ENSMUSG00230001864
 protein coding gene Chr1:3255981-3341195 (+)
NOD/ShiLtJ ENSMUSG00190001010
 protein coding gene Chr1:2349425-2441999 (+)
NZO/HlLtJ ENSMUSG00225000094
 protein coding gene Chr1:6624026-6710817 (+)
PWK/PhJ ENSLUMG00010002290
 protein coding gene Chr1:2129574-2215415 (+)
SPRET/EiJ ENSMSPG00010012953
 protein coding gene Chr1:2611164-2697159 (+)
WSB/EiJ ENSIUOG00005010451
 protein coding gene Chr1:2340201-2425499 (+)



Homology
more
  • Human Ortholog
    ATP6V1H, ATPase H+ transporting V1 subunit H
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP6V1H, ATPase H+ transporting V1 subunit H
  • Synonyms
    CGI-11, MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13
  • Links
    NCBI Gene ID: 51606
    UniProt: Q9UI12

  • Chr Location
    8q11.23; chr8:53715543-53843558 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    15 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 knock-out allele exhibit embryonic lethality. Mice heterozygous for the allele exhbit bone loss with altered bone absorption and decreased bone formation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    11
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
    696
  • Tissues
    99
  • cDNA Data
    106
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 108664 NCBI Gene Model | MGI Sequence Detail 80238 C57BL/6J ±  kb
    transcript NM_133826 RefSeq | MGI Sequence Detail 2063 C57BL/6  
    polypeptide Q8BVE3 UniProt | EBI | MGI Sequence Detail 483 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 108
      cDNA 108

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2138471
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 3
      Gene Ontology 11
      Phenotypes 15
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:364009 Wang B, et al., TFEB-vacuolar ATPase signaling regulates lysosomal function and microglial activation in tauopathy. Nat Neurosci. 2024 Jan;27(1):48-62
    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
    09/15/2026
    MGI 6.29     		The Jackson Laboratory