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

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Summary

Official Symbol: BAK1provided by HGNC
Official Full Name: BCL2-antagonist/killer 1provided by HGNC
Primary source: HGNC:949
See related: Ensembl:ENSG00000030110; HPRD:02744; MIM:600516; Vega:OTTHUMG00000014530
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; MGC3887; MGC117255
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]

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Genomic context

Location :: 6p21.3

Sequence :: Chromosome: 6; NC_000006.11 (33540323..33548070, complement)

See BAK1 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

These findings suggested the dysregulation of the apoptosis-related proteins MCL1 and BAK1 in multiple sclerosis.
Title: Aberrant expression of the apoptosis-related proteins BAK and MCL1 in T cells in multiple sclerosis.
the diterpenoid compound induces a structural and functional conversion of Bcl-2 through Bim to permeabilize the mitochondrial outer membrane, thereby inducing apoptosis independently of Bax and Bak.
Title: Natural diterpenoid compound elevates expression of Bim protein, which interacts with antiapoptotic protein Bcl-2, converting it to proapoptotic Bax-like molecule.
likely that BAK1 polymorphisms studies not susceptibility loci for rheumatoid arthritis and systemic lupus erythematosus.
Title: Association study of BAK1 gene polymorphisms in Spanish rheumatoid arthritis and systemic lupus erythematosus cohorts.
Mcl-1 is complexed with Bak (but not Bax or Noxa) in untreated cells; Bak becomes activated in concert with loss of Mcl-1 expression.
Title: Cdk1/cyclin B plays a key role in mitotic arrest-induced apoptosis by phosphorylation of Mcl-1, promoting its degradation and freeing Bak from sequestration.
immunohistochemical investigation of variables involved in expression of Bak (alongside STAT3 and Bcl-xL) in endometrioid adenocarcinoma tissue: Bak and Bcl-xL are expressed in cytoplasm in some patients; expression in ERalpha +/- tissues
Title: STAT3 and apoptosis regulators: Bak and Bcl-xL in endometrioid adenocarcinomas of different estrogen receptor-α immunoprofile.
Plasminogen K5 activates mitochondrial apoptosis pathway in endothelial cells by regulating Bak and Bcl-x(L) subcellular distribution
Title: Plasminogen K5 activates mitochondrial apoptosis pathway in endothelial cells by regulating Bak and Bcl-x(L) subcellular distribution.
variants in or near BAK1, DMRT1, TERT-CLPTM1L, and KITLG predispose to familial and bilateral TGCT.
Title: Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour.
Data suggest that expression of Bak can be induced by both, p53 and p73 utilizing different binding sites within the bak promoter.
Title: Differential regulation of the proapoptotic multidomain protein Bak by p53 and p73 at the promoter level.
The observations indicate that transient protein-protein interactions involving the Bak BH3-binding groove initiate Bak oligomerization and activation.
Title: Transient binding of an activator BH3 domain to the Bak BH3-binding groove initiates Bak oligomerization.
Co-stimulation of oxidized low density lipoprotein with interleukin-10 for 24h inhibited Bak1 expression to 28.4+/-7.2% (mRNA) and 25.7+/-6.3% (protein).
Title: Interleukin-10 down-regulates oxLDL induced expression of scavenger receptor A and Bak-1 in macrophages derived from THP-1 cells.

Submit: New GeneRIF Correction See all (107)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study of testicular germ cell tumor.

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001179.1	NP_001179.1	BAK1	BIND	PubMed	BAK1 (Bak) interacts with itself to form a dimer.
NP_001179.1	CAA42633.1	TP53	BIND	PubMed	Mitochondrial p53-P72 interacts with Bak.
NP_001179.1	NP_000537.2	TP53	BIND	PubMed	Mitochondrial p53-R72 interacts with Bak.
Q16611	Q16611	BAK1	HPRD	PubMed
Q16611	Q07814	BAX	HPRD	PubMed
Q16611	P10415	BCL2	HPRD	PubMed
Q16611	Q16548	BCL2A1	HPRD	PubMed
Q16611	Q07817	BCL2L1	HPRD	PubMed
Q16611	Q9HD36	BCL2L10	HPRD	PubMed
Q16611	P55957	BID	HPRD	PubMed
Q16611	O75460	ERN1	HPRD	PubMed
Q16611	P10809	HSPD1	HPRD	PubMed
Q16611	Q07820	MCL1	HPRD	PubMed
Q16611	Q8IWA4	MFN1	HPRD	PubMed
Q16611	P04637	TP53	HPRD	PubMed
Q16611	P21796	VDAC1	HPRD	PubMed
Q16611	P45880	VDAC2	HPRD	PubMed
BioGRID:107054	BioGRID:115404	ACTR2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107054	BioGRID:116383	AKAP13	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107054	BioGRID:106889	ARHGDIA	BioGRID	PubMed	Two-hybrid
BioGRID:107054	BioGRID:107054	BAK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107054	BioGRID:107057	BAX	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107054	BioGRID:107068	BCL2	BioGRID	PubMed	Affinity Capture-Western; Protein-peptide
BioGRID:107054	BioGRID:107070	BCL2L1	BioGRID	PubMed	Affinity Capture-Western; FRET; Protein-peptide; Reconstituted Complex; Two-hybrid
BioGRID:107054	BioGRID:107071	BCL2L2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107054	BioGRID:107995	DBN1	BioGRID	PubMed	Two-hybrid
BioGRID:107054	BioGRID:108040	DFFA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107054	BioGRID:108399	FBL	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107054	BioGRID:130134	FRYL	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107054	BioGRID:109561	HSPD1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107054	BioGRID:110079	KRT31	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107054	BioGRID:110338	MCL1	BioGRID	PubMed	Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid
BioGRID:107054	BioGRID:116709	MYCBP2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107054	BioGRID:117071	SRRM2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107054	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:107054	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107054	BioGRID:113260	VDAC2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western

Function	Evidence Code	Pubs
BH domain binding	IEA Inferred from Electronic Annotation more info
chaperone binding	IEA Inferred from Electronic Annotation more info
heat shock protein binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IPI Inferred from Physical Interaction more info
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
B cell apoptosis	IEA Inferred from Electronic Annotation more info
B cell homeostasis	IEA Inferred from Electronic Annotation more info
B cell negative selection	IEA Inferred from Electronic Annotation more info
activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IEA Inferred from Electronic Annotation more info
activation of pro-apoptotic gene products	TAS Traceable Author Statement more info
aging	IEA Inferred from Electronic Annotation more info
apoptosis in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
apoptotic process	TAS Traceable Author Statement more info
blood vessel remodeling	IEA Inferred from Electronic Annotation more info
brain development	IEA Inferred from Electronic Annotation more info
cellular response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to UV	ISS Inferred from Sequence or Structural Similarity more info
cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
endocrine pancreas development	IEA Inferred from Electronic Annotation more info
establishment or maintenance of transmembrane electrochemical gradient	IDA Inferred from Direct Assay more info	PubMed
induction of apoptosis by extracellular signals	IMP Inferred from Mutant Phenotype more info	PubMed
induction of apoptosis by intracellular signals	TAS Traceable Author Statement more info
leukocyte homeostasis	IEA Inferred from Electronic Annotation more info
limb morphogenesis	IEA Inferred from Electronic Annotation more info
mitochondrial fusion	IEA Inferred from Electronic Annotation more info
myeloid cell homeostasis	IEA Inferred from Electronic Annotation more info
negative regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
negative regulation of peptidyl-serine phosphorylation	IEA Inferred from Electronic Annotation more info
organ regeneration	IEA Inferred from Electronic Annotation more info
positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of calcium ion transport into cytosol	IEA Inferred from Electronic Annotation more info
positive regulation of endoplasmic reticulum unfolded protein response	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of release of cytochrome c from mitochondria	IEA Inferred from Electronic Annotation more info
post-embryonic camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
reduction of endoplasmic reticulum calcium ion concentration	IEA Inferred from Electronic Annotation more info
regulation of cell cycle	IEA Inferred from Electronic Annotation more info
regulation of mitochondrial membrane permeability	IDA Inferred from Direct Assay more info	PubMed
regulation of mitochondrial membrane potential	IDA Inferred from Direct Assay more info	PubMed
regulation of protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
regulation of protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
release of cytochrome c from mitochondria	IGI Inferred from Genetic Interaction more info
response to UV-C	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to ethanol	IEA Inferred from Electronic Annotation more info
response to fungus	IEA Inferred from Electronic Annotation more info
response to gamma radiation	IEA Inferred from Electronic Annotation more info
response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
response to mycotoxin	IEA Inferred from Electronic Annotation more info
response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
vagina development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytosol	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
integral to mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info
intracellular	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
mitochondrial outer membrane	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
pore complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: bcl-2 homologous antagonist/killer

Names: bcl-2 homologous antagonist/killer; bcl2-L-7; BCL2-like 7 protein; bcl-2-like protein 7; apoptosis regulator BAK; pro-apoptotic protein BAK

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NCBI Reference Sequences (RefSeq)

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_001188.3 → NP_001179.1 bcl-2 homologous antagonist/killer

Status: REVIEWED

Source sequence(s)

BC004431, BM855203, CB142221, Z93017

Consensus CDS

CCDS4781.1

UniProtKB/Swiss-Prot

Q16611

Related

ENSP00000363591, OTTHUMP00000016211, ENST00000374467, OTTHUMT00000040202

Conserved Domains (1) summary

cd06845
Location:29 – 179
Blast Score: 344

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: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

33540323..33548070, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

33281784..33289531, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AY260471.1	AAO74828.1
genomic	CH471081.1	EAX03740.1
		EAX03741.1
		EAX03742.1
genomic	D88397.2	BAA13606.1
genomic	Z93017.6	CAB65626.1
mRNA	AF520590.1	AAM74949.1
mRNA	AK091807.1	BAG52419.1
mRNA	AK292093.1	BAF84782.1
mRNA	AK293547.1	BAG57025.1
mRNA	AK303422.1	BAG64474.1
mRNA	BC004431.1	AAH04431.1
mRNA	BC032789.1	None
mRNA	BC110337.1	AAI10338.1
mRNA	BM855203.1	None
mRNA	CB142221.1	None
mRNA	CR457419.1	CAG33700.1
mRNA	U16811.1	AAA74466.1
mRNA	U23765.1	AAA93066.1
mRNA	X84213.1	CAA58997.1
mRNA	CR627020.1	CAI46254.1
other-genetic	DQ892527.2	ABM83453.1
other-genetic	DQ895739.2	ABM86665.1