BAK1 BCL2 antagonist/killer 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BAK1provided by HGNC
Official Full Name: BCL2 antagonist/killer 1provided by HGNC
Primary source: HGNC:HGNC:949
See related: Ensembl:ENSG00000030110 MIM:600516; AllianceGenome:HGNC:949
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BAK; CDN1; BCL2L7; BAK-LIKE
Summary: The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in duodenum (RPKM 20.6), small intestine (RPKM 16.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33572552..33580276, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (33393742..33401466, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33540329..33548053, complement)

Chromosome 6 - NC_000006.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Decoding the concealed transcriptional signature of the apoptosis-related BCL2 antagonist/killer 1 (BAK1) gene in human malignancies.
Title: Decoding the concealed transcriptional signature of the apoptosis-related BCL2 antagonist/killer 1 (BAK1) gene in human malignancies.
A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors.
Title: A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors.
The interplay between BAX and BAK tunes apoptotic pore growth to control mitochondrial-DNA-mediated inflammation.
Title: The interplay between BAX and BAK tunes apoptotic pore growth to control mitochondrial-DNA-mediated inflammation.
Bak interacts with AKT and is involved in TNFalpha/CHX-induced apoptosis.
Title: Bak interacts with AKT and is involved in TNFα/CHX-induced apoptosis.
Structural basis of BAK activation in mitochondrial apoptosis initiation.
Title: Structural basis of BAK activation in mitochondrial apoptosis initiation.
Paradoxical implication of BAX/BAK in the persistence of tetraploid cells.
Title: Paradoxical implication of BAX/BAK in the persistence of tetraploid cells.
Dynamic reconfiguration of pro-apoptotic BAK on membranes.
Title: Dynamic reconfiguration of pro-apoptotic BAK on membranes.
High-resolution analysis of the conformational transition of pro-apoptotic Bak at the lipid membrane.
Title: High-resolution analysis of the conformational transition of pro-apoptotic Bak at the lipid membrane.
Inflammation-dependent downregulation of miR-532-3p mediates apoptotic signaling in human sarcopenia through targeting BAK1.
Title: Inflammation-dependent downregulation of miR-532-3p mediates apoptotic signaling in human sarcopenia through targeting <i>BAK1</i>.
Glucocorticoids can induce BIM to trigger apoptosis in the absence of BAX and BAK1.
Title: Glucocorticoids can induce BIM to trigger apoptosis in the absence of BAX and BAK1.

Submit: New GeneRIF Correction See all GeneRIFs (224)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies four new loci associated with testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat induces apoptosis of human blood-retinal barrier-associated cells by downregulation of BCL2 and upregulation of BAK, BAX, and cytochrome c in a dose-dependent manner	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64934 (e-PCR)
- UniSTS:89222

D11S4366 (e-PCR)
- UniSTS:38127

Homology

Homologs of the BAK1 gene: The BAK1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Orthologs from Annotation Pipeline: 326 organisms have orthologs with human gene BAK1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BH domain binding	IEA Inferred from Electronic Annotation more info
enables chaperone binding	IEA Inferred from Electronic Annotation more info
enables heat shock protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available 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	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in B cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in B cell negative selection	IEA Inferred from Electronic Annotation more info
involved_in activation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IEA Inferred from Electronic Annotation more info
involved_in aging	IEA Inferred from Electronic Annotation more info
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in apoptotic process involved in blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport into cytosol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to UV	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to unfolded protein	TAS Traceable Author Statement more info	PubMed
involved_in endocrine pancreas development	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum calcium ion homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in establishment or maintenance of transmembrane electrochemical gradient	IDA Inferred from Direct Assay more info	PubMed
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in fibroblast apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	TAS Traceable Author Statement more info	PubMed
involved_in limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial fusion	IEA Inferred from Electronic Annotation more info
involved_in myeloid cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endoplasmic reticulum calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of peptidyl-serine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-serine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of IRE1-mediated unfolded protein response	TAS Traceable Author Statement 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of calcium ion transport into cytosol	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of endoplasmic reticulum unfolded protein response	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of release of cytochrome c from mitochondria	NAS Non-traceable Author Statement more info	PubMed
involved_in post-embryonic camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitochondrial membrane permeability	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrial membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
involved_in release of cytochrome c from mitochondria	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to UV-C	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to fungus	IEA Inferred from Electronic Annotation more info
involved_in response to gamma radiation	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in response to mycotoxin	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in thymocyte apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in vagina development	IEA Inferred from Electronic Annotation more info

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 Bcl-2 family protein complex	IDA Inferred from Direct Assay more info	PubMed
part_of Bcl-2 family protein complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
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	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
part_of pore complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: bcl-2 homologous antagonist/killer

Names: BCL2-like 7 protein; apoptosis regulator BAK; bcl-2-like protein 7; bcl2-L-7; pro-apoptotic protein 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_001188.4 → NP_001179.1 bcl-2 homologous antagonist/killer

See identical proteins and their annotated locations for NP_001179.1

Status: REVIEWED

Source sequence(s)

BC004431, BM855203, CB142221, Z93017

Consensus CDS

CCDS4781.1

UniProtKB/Swiss-Prot

Q16611, Q92533

UniProtKB/TrEMBL

A0A0S2Z391

Related

ENSP00000363591.3, ENST00000374467.4

Conserved Domains (1) summary

cd06845
Location:29 → 183

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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

33572552..33580276 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514779.4 → XP_011513081.1 bcl-2 homologous antagonist/killer isoform X1

See identical proteins and their annotated locations for XP_011513081.1

UniProtKB/Swiss-Prot

Q16611, Q92533

UniProtKB/TrEMBL

A0A0S2Z391

Conserved Domains (1) summary

cd06845
Location:29 → 183

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 ...
XM_011514780.2 → XP_011513082.1 bcl-2 homologous antagonist/killer isoform X3

See identical proteins and their annotated locations for XP_011513082.1

Conserved Domains (1) summary

cd06845
Location:2 → 124

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 ...
XM_047419196.1 → XP_047275152.1 bcl-2 homologous antagonist/killer isoform X3
XM_047419194.1 → XP_047275150.1 bcl-2 homologous antagonist/killer isoform X2