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

    Gene ID: 578, updated on 31-Dec-2019

    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

    Genomic context

    See BAK1 in Genome Data Viewer
    Location:
    6p21.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (33572552..33580296, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33540323..33548072, 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

    NHGRI GWAS Catalog

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

    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
    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
    PubMed 
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell apoptotic process 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    apoptotic process involved in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation 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 
    cellular response to unfolded protein TAS
    Traceable Author Statement
    more info
    PubMed 
    endocrine pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum calcium ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    establishment or maintenance of transmembrane electrochemical gradient IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extrinsic apoptotic signaling pathway in absence of ligand IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    fibroblast apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress TAS
    Traceable Author Statement
    more info
    PubMed 
    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 endoplasmic reticulum calcium ion concentration 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
     
    positive regulation of IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
     
    positive regulation of proteolysis IDA
    Inferred from Direct Assay
    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
     
    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
    PubMed 
    response to UV-C 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
     
    thymocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    vagina development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BAK complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Bcl-2 family protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    BCL2-like 7 protein
    apoptosis regulator BAK
    bcl-2-like protein 7
    bcl2-L-7
    pro-apoptotic protein BAK

    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)

    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 109.20191205

    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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