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Atp6v1e1 Gene Detail
Summary
  • Symbol
    Atp6v1e1
  • Name
    ATPase, H+ transporting, lysosomal V1 subunit E1
  • Synonyms
    2410029D23Rik, Atp6e, Atp6e2, Atp6v1e, D6Ertd385e, E2, H(+)-ATPase E-like protein, H+ ATPase subunit E, lysosomal 31kDa
  • Feature Type
    protein coding gene
  • IDs
    MGI:894326
    NCBI Gene: 11973
  • Gene Overview
    MyGene.info: ATP6V1E1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:120795244-120822685 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 57.01 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    91 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_894326
protein coding gene Chr6:120794305-120822793 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031209
protein coding gene Chr6:123710947-123734330 (-)
A/J MGP_AJ_G0031178
protein coding gene Chr6:118952521-118979483 (-)
AKR/J MGP_AKRJ_G0031109
protein coding gene Chr6:122167770-122197308 (-)
BALB/cJ MGP_BALBcJ_G0031189
protein coding gene Chr6:118712170-118735632 (-)
C3H/HeJ MGP_C3HHeJ_G0030520
protein coding gene Chr6:62122381-62149942 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031647
protein coding gene Chr6:126881274-126905948 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028807
protein coding gene Chr6:115859438-115874193 (-)
CAST/EiJ MGP_CASTEiJ_G0030296
protein coding gene Chr6:122615648-122640547 (-)
CBA/J MGP_CBAJ_G0030872
protein coding gene Chr6:131914480-131939799 (-)
DBA/2J MGP_DBA2J_G0031028
protein coding gene Chr6:117837618-117864059 (-)
FVB/NJ MGP_FVBNJ_G0030980
protein coding gene Chr6:116971961-116998707 (-)
LP/J MGP_LPJ_G0031107
protein coding gene Chr6:123702522-123726557 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031014
protein coding gene Chr6:135890581-135915864 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031676
protein coding gene Chr6:122186628-122210064 (-)
PWK/PhJ MGP_PWKPhJ_G0030011
protein coding gene Chr6:116879950-116903854 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029840
protein coding gene Chr6:120931187-120955951 (-)
WSB/EiJ MGP_WSBEiJ_G0030379
protein coding gene Chr6:122475184-122499549 (-)



Homology
more
  • Human Ortholog
    ATP6V1E1, ATPase H+ transporting V1 subunit E1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ATP6V1E1, ATPase H+ transporting V1 subunit E1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARCL2C, ATP6E, ATP6E2, ATP6V1E, P31, Vma4
  • Links
    NCBI Gene ID: 529
    neXtProt AC: NX_P36543
    UniProt: P36543

  • Chr Location
    22q11.21; chr22:17592136-17628822 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human ATP6V1E1 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
    1 phenotype from 1 allele in 1 genetic background
    8 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.
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 population 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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 11973 NCBI Gene Model | MGI Sequence Detail 27442 C57BL/6J ±  kb
transcript NM_007510 RefSeq | MGI Sequence Detail 1233 C57BL/6  
polypeptide P50518 UniProt | EBI | MGI Sequence Detail 226 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 225
    Genomic 3
    cDNA 219
    Primer pair 3

    Microarray probesets 6
Other
Accession IDs
less
MGI:1261800, MGI:1924021
References
more
  • Summaries
    All 59
    Developmental Gene Expression 9
    Gene Ontology 9
    Phenotypes 8
  • Earliest
    J:31176 Laitala-Leinonen T, et al., Resorption-cycle-dependent polarization of mRNAs for different subunits of V-ATPase in bone-resorbing osteoclasts. Mol Biol Cell. 1996 Jan;7(1):129-42
  • Latest
    J:252459 Hai Q, et al., Quantitative Trait Locus Mapping of Macrophage Cholesterol Metabolism and CRISPR/Cas9 Editing Implicate an ACAT1 Truncation as a Causal Modifier Variant. Arterioscler Thromb Vasc Biol. 2018 Jan;38(1):83-91

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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last database update
09/17/2019
MGI 6.14
The Jackson Laboratory