Bak1 BCL2-antagonist/killer 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bak1provided by MGI
Official Full Name: BCL2-antagonist/killer 1provided by MGI
Primary source: MGI:MGI:1097161
See related: Ensembl:ENSMUSG00000057789 AllianceGenome:MGI:1097161
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bak; N-Bak; N-BAK1
Summary: Enables identical protein binding activity. Involved in cellular response to UV and release of cytochrome c from mitochondria. Acts upstream of or within several processes, including apoptotic signaling pathway; cellular calcium ion homeostasis; and lymphocyte apoptotic process. Located in cytosol; endoplasmic reticulum; and mitochondrial membrane. Is integral component of mitochondrial outer membrane. Part of BAK complex. Is expressed in several structures, including alimentary system; brain; branchial arch; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in ataxia telangiectasia and cervix carcinoma. Orthologous to human BAK1 (BCL2 antagonist/killer 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in large intestine adult (RPKM 109.5), duodenum adult (RPKM 107.1) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17; 17 A3.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (27238786..27247601, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (27019812..27028627, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

G protein-coupled receptor 17 restricts rabies virus replication via BAK-mediated apoptosis.
Title: G protein-coupled receptor 17 restricts rabies virus replication via BAK-mediated apoptosis.
Downstream events initiated by expression of FSHD-associated DUX4: Studies of nucleocytoplasmic transport, gammaH2AX accumulation, and Bax/Bak-dependence.
Title: Downstream events initiated by expression of FSHD-associated DUX4: Studies of nucleocytoplasmic transport, γH2AX accumulation, and Bax/Bak-dependence.
Paradoxical implication of BAX/BAK in the persistence of tetraploid cells.
Title: Paradoxical implication of BAX/BAK in the persistence of tetraploid cells.
MiR-125b inhibits cardiomyocyte apoptosis by targeting BAK1 in heart failure.
Title: MiR-125b inhibits cardiomyocyte apoptosis by targeting BAK1 in heart failure.
Roles of Bak and Sirt3 in Paraquat-Induced Cochlear Hair Cell Damage.
Title: Roles of Bak and Sirt3 in Paraquat-Induced Cochlear Hair Cell Damage.
Structure of detergent-activated BAK dimers derived from the inert monomer.
Title: Structure of detergent-activated BAK dimers derived from the inert monomer.
Bax and Bak jointly control survival and dampen the early unfolded protein response in pancreatic beta-cells under glucolipotoxic stress.
Title: Bax and Bak jointly control survival and dampen the early unfolded protein response in pancreatic β-cells under glucolipotoxic stress.
Developmental Attenuation of Neuronal Apoptosis by Neural-Specific Splicing of Bak1 Microexon.
Title: Developmental Attenuation of Neuronal Apoptosis by Neural-Specific Splicing of Bak1 Microexon.
These results establish the ripoptosome/caspase-8 complex as a pro-inflammatory checkpoint that senses the perturbation of mitochondrial integrity.
Title: BAX/BAK-Induced Apoptosis Results in Caspase-8-Dependent IL-1β Maturation in Macrophages.
BAX/BAK activation, the apoptotic executioner caspases, caspase-3 and -7, act upstream of both caspase-8 and NLRP3-induced IL-1beta maturation and secretion.
Title: The Mitochondrial Apoptotic Effectors BAX/BAK Activate Caspase-3 and -7 to Trigger NLRP3 Inflammasome and Caspase-8 Driven IL-1β Activation.

Submit: New GeneRIF Correction See all GeneRIFs (130)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bak1 (e-PCR), detects polymorphism
- UniSTS:141155

D17Jcs15 (e-PCR), detects polymorphism
- UniSTS:259264

Bak1 (e-PCR), detects polymorphism
- UniSTS:259045

Homology

Homologs of the Bak1 gene: The Bak1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, and chicken.
Orthologs from Annotation Pipeline: 326 organisms have orthologs with human gene Bak1

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables BH domain binding	ISO Inferred from Sequence Orthology more info
enables chaperone binding	ISO Inferred from Sequence Orthology more info
enables heat shock protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within B cell apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within B cell homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within B cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within B cell negative selection	IGI Inferred from Genetic Interaction more info	PubMed
involved_in activation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within apoptotic process involved in blood vessel morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood vessel remodeling	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of calcium ion transport into cytosol	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to UV	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of establishment of localization in cell	IGI Inferred from Genetic Interaction more info	PubMed
involved_in establishment or maintenance of transmembrane electrochemical gradient	ISO Inferred from Sequence Orthology more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within extrinsic apoptotic signaling pathway in absence of ligand	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within fibroblast apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within leukocyte homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mitochondrial fusion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within myeloid cell homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of endoplasmic reticulum calcium ion concentration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of peptidyl-serine phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of release of cytochrome c from mitochondria	ISO Inferred from Sequence Orthology more info
acts_upstream_of peptidyl-serine phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of calcium ion transport into cytosol	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of endoplasmic reticulum unfolded protein response	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of proteolysis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of release of cytochrome c from mitochondria	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of release of cytochrome c from mitochondria	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within post-embryonic camera-type eye morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of cell cycle	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of mitochondrial membrane permeability	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitochondrial membrane potential	ISO Inferred from Sequence Orthology more info
involved_in release of cytochrome c from mitochondria	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of cytochrome c from mitochondria	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to fungus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to gamma radiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to mycotoxin	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thymocyte apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within vagina development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of BAK complex	IDA Inferred from Direct Assay more info	PubMed
part_of BAK complex	IPI Inferred from Physical Interaction more info	PubMed
part_of BAK complex	ISO Inferred from Sequence Orthology more info
part_of Bcl-2 family protein complex	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
part_of pore complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: bcl-2 homologous antagonist/killer

Names: Bcl2 homologous antagonist/killer; apoptosis regulator BAK

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_007523.3 → NP_031549.2 bcl-2 homologous antagonist/killer

See identical proteins and their annotated locations for NP_031549.2

Status: VALIDATED

Source sequence(s)

AC132404, AW045927, BC057589, BY197389, CX564692

Consensus CDS

CCDS28558.1

UniProtKB/Swiss-Prot

O08734, Q8C264

Related

ENSMUSP00000077757.6, ENSMUST00000078691.12

Conserved Domains (1) summary

cd06845
Location:27 → 181

Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...