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

Gene ID: 578, updated on 6-Sep-2021

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
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
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Genomic context

See BAK1 in Genome Data Viewer
Location:
6p21.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (33572552..33580296, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33540329..33548053, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986537 Neighboring gene RNA, 7SL, cytoplasmic 26, pseudogene Neighboring gene long intergenic non-protein coding RNA 336 Neighboring gene gametogenetin binding protein 1 (pseudogene) Neighboring gene uncharacterized LOC101929188 Neighboring gene inositol 1,4,5-trisphosphate receptor type 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
GeneReviews: Not available
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
GeneReviews: Not available
A genome-wide association study of testicular germ cell tumor.
GeneReviews: Not available
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
GeneReviews: Not available
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
GeneReviews: Not available
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.
GeneReviews: Not available
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
GeneReviews: Not available
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
GeneReviews: Not available
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3887, MGC117255

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 cell population proliferation 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 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 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 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 IEA
Inferred from Electronic Annotation
more info
 
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 Bcl-2 family protein complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of mitochondrial outer membrane ISS
Inferred from Sequence or Structural Similarity
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 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

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)

  1. NM_001188.4NP_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
    UniProtKB/TrEMBL
    A0A0S2Z391
    Related
    ENSP00000363591.3, ENST00000374467.4
    Conserved Domains (1) summary
    cd06845
    Location:29183
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    33572552..33580296 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514779.3XP_011513081.1  bcl-2 homologous antagonist/killer isoform X1

    See identical proteins and their annotated locations for XP_011513081.1

    UniProtKB/Swiss-Prot
    Q16611
    UniProtKB/TrEMBL
    A0A0S2Z391
    Conserved Domains (1) summary
    cd06845
    Location:29183
    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 ...
  2. XM_011514780.1XP_011513082.1  bcl-2 homologous antagonist/killer isoform X2

    See identical proteins and their annotated locations for XP_011513082.1

    Conserved Domains (1) summary
    cd06845
    Location:2124
    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 ...
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