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Vdac1 Gene Detail
Summary
  • Symbol
    Vdac1
  • Name
    voltage-dependent anion channel 1
  • Synonyms
    Vdac5
  • Feature Type
    protein coding gene
  • IDs
    MGI:106919
    NCBI Gene: 22333
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:52251905-52280224 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 31.86 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    141 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106919
 protein coding gene Chr11:52251687-52280224 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018284
 protein coding gene Chr11:51678002-51707186 (+)
A/J MGP_AJ_G0018253
 protein coding gene Chr11:49740331-49768778 (+)
AKR/J MGP_AKRJ_G0018223
 protein coding gene Chr11:51343770-51372298 (+)
BALB/cJ MGP_BALBcJ_G0018224
 protein coding gene Chr11:50071300-50100539 (+)
C3H/HeJ MGP_C3HHeJ_G0018035
 protein coding gene Chr11:51321197-51350049 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018676
 protein coding gene Chr11:53251195-53280754 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016326
 protein coding gene Chr11:47258455-47273404 (+)
CAST/EiJ MGP_CASTEiJ_G0017600
 protein coding gene Chr11:51354025-51387120 (+)
CBA/J MGP_CBAJ_G0018010
 protein coding gene Chr11:55758215-55789467 (+)
DBA/2J MGP_DBA2J_G0018120
 protein coding gene Chr11:49471122-49501339 (+)
FVB/NJ MGP_FVBNJ_G0018112
 protein coding gene Chr11:49132943-49162694 (+)
LP/J MGP_LPJ_G0018194
 protein coding gene Chr11:52092954-52126154 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018136
 protein coding gene Chr11:57104678-57140589 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018718
 protein coding gene Chr11:51394613-51426515 (+)
PWK/PhJ MGP_PWKPhJ_G0017375
 protein coding gene Chr11:49966545-49996147 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017170
 protein coding gene Chr11:51182137-51213299 (+)
WSB/EiJ MGP_WSBEiJ_G0017647
 protein coding gene Chr11:51016310-51050116 (+)



Homology
more
  • Human Ortholog
    VDAC1, voltage dependent anion channel 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    VDAC1, voltage dependent anion channel 1
  • Synonyms
    PORIN, VDAC-1
  • Links
    NCBI Gene ID: 7416
    neXtProt AC: NX_P21796
    UniProt: P21796

  • Chr Location
    5q31.1; chr5:133971871-134114540 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human VDAC1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    6 phenotypes from multigenic genotypes
    24 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.
Homozygous null mutants exhibit approximately 60% embryonic mortality, with loss occurring at embryonic day 10.5-11.5. Survivors exhibit defective cued fear conditioning and spatial learning. Heterozygotes also exhibit about 12% prenatal mortality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    68
  • GO References
    24
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
non-membrane-bounded 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
    806
  • Tissues
    59
  • cDNA Data
    16
  • Literature Summary
    23
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 22333 NCBI Gene Model | MGI Sequence Detail 28320 C57BL/6J ±  kb
transcript NM_001400989 RefSeq | MGI Sequence Detail 4444 ZRU/MplStud  
polypeptide Q60932 UniProt | EBI | MGI Sequence Detail 296 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 19
    Genomic 3
    cDNA 16

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-35380, MGI:2144363
References
more
  • Summaries
    All 114
    Developmental Gene Expression 23
    Gene Ontology 24
    Phenotypes 24
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:345617 Beutner G, et al., Coordinated metabolic responses to cyclophilin D deletion in the developing heart. iScience. 2024 Mar 15;27(3):109157
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
04/16/2024
MGI 6.23 		The Jackson Laboratory