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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
  • Gene Overview
    MyGene.info: ATP6V1H
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:5082978-5163213 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 1.85 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    250 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914864
protein coding gene Chr1:5070018-5163213 (.)
129S1/SvImJ MGP_129S1SvImJ_G0015815
protein coding gene Chr1:2111511-2200183 (+)
A/J MGP_AJ_G0015797
protein coding gene Chr1:2204311-2294327 (+)
AKR/J MGP_AKRJ_G0015756
protein coding gene Chr1:2176438-2280671 (+)
BALB/cJ MGP_BALBcJ_G0015753
protein coding gene Chr1:2118032-2199812 (+)
C3H/HeJ MGP_C3HHeJ_G0015587
protein coding gene Chr1:2159080-2248340 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016205
protein coding gene Chr1:2232828-2333419 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0013927
protein coding gene Chr1:1833965-1908662 (+)
CAST/EiJ MGP_CASTEiJ_G0015167
protein coding gene Chr1:2349424-2442853 (+)
CBA/J MGP_CBAJ_G0015561
protein coding gene Chr1:2389250-2482497 (+)
DBA/2J MGP_DBA2J_G0015659
protein coding gene Chr1:2111983-2194930 (+)
FVB/NJ MGP_FVBNJ_G0015664
protein coding gene Chr1:2071344-2163949 (+)
LP/J MGP_LPJ_G0015732
protein coding gene Chr1:2300025-2395894 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0015683
protein coding gene Chr1:2550512-2644821 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016252
protein coding gene Chr1:2137428-2236926 (+)
PWK/PhJ MGP_PWKPhJ_G0014951
protein coding gene Chr1:2034162-2123816 (+)
SPRET/EiJ MGP_SPRETEiJ_G0014731
protein coding gene Chr1:2317812-2406998 (+)
WSB/EiJ MGP_WSBEiJ_G0015231
protein coding gene Chr1:2140430-2230821 (+)



Homology
more
  • Human Ortholog
    ATP6V1H, ATPase H+ transporting V1 subunit H
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ATP6V1H, ATPase H+ transporting V1 subunit H
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CGI-11, MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13
  • Links
    NCBI Gene ID: 51606
    neXtProt AC: NX_Q9UI12
    UniProt: Q9UI12

  • Chr Location
    8q11.23; chr8:53715543-53843311 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 1 allele in 1 genetic background
    7 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 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
  • 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 108664 NCBI Gene Model | MGI Sequence Detail 80236 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 34
      Developmental Gene Expression 2
      Gene Ontology 4
      Phenotypes 7
    • 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:253332 Zhao W, et al., Analysis of two transcript isoforms of vacuolar ATPase subunit H in mouse and zebrafish. Gene. 2018 Jan 5;638:66-75

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory