Vdac1 MGI Mouse Gene Detail - MGI:106919 - voltage-dependent anion channel 1

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

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

SNPs within 2kb

921 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:12669

NCBI Gene ID: 7416

neXtProt AC: NX_P21796

UniProt: P21796
Chr Location

5q31.1; chr5:133971871-134114540 (-) GRCh38

MGI Vertebrate Homology

Vdac1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: VDAC1
Gene Tree

Vdac1

Diseases

1 with human VDAC1 associations

				Human Disease	Mouse Models
				prostate cancer IDs prostate cancer DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

7 phenotypes from 2 alleles in 2 genetic backgrounds
6 phenotypes from multigenic genotypes
26 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

120
Chemically induced (other)

1
Endonuclease-mediated

5
Gene trapped

109
Targeted

5
Genomic Mutations

1 involving Vdac1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

67 strains or lines available

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.

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All GO Annotations

75
GO References

25

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

843
Tissues

78
cDNA Data

16
Literature Summary

24

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase vdac1

ZFIN vdac1

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All Sequences

80
RefSeq

12
UniProt

5
CCDS

CCDS24671.1

Ensembl

ENSMUSG00000020402 (Evidence)
NCBI Gene

22333

			Length	Strain/Species	Flank
genomic	22333	NCBI Gene Model \| MGI Sequence Detail	28320	C57BL/6J	± kb
transcript	NM_001400989	RefSeq \| MGI Sequence Detail	4444	C57BL/6
polypeptide	Q60932	UniProt \| EBI \| MGI Sequence Detail	296	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000017280 voltage-dependent anion-selective channel protein 1

(term hierarchy)
PDB

3EMN, 4C69, 7KUH, 7TCV
InterPro Domains

IPR027246 Eukaryotic porin/Tom40

IPR023614 Porin domain superfamily

IPR001925 Porin, eukaryotic type
GlyGen

Q60932 6 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (4 sites)

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All nucleic 19

Genomic 3

cDNA 16

Microarray probesets 6

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MGD-MRK-35380, MGI:2144363

Summaries

All 118

Developmental Gene Expression 24

Gene Ontology 25

Phenotypes 26
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:346909 Ha HT, et al., Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models. JCI Insight. 2024 Mar 7;:e175462

TSS for Vdac1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101356	Chr11:52251651-52251762 (+)	-198 bp
Tssr101357	Chr11:52251876-52251891 (+)	-21 bp
Tssr101358	Chr11:52251896-52251953 (+)	20 bp
Tssr101359	Chr11:52265121-52265147 (+)	13,229 bp
Tssr101360	Chr11:52279966-52279973 (+)	28,065 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24