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BAK1 Gene

protein-coding   GIFtS: 67
GCID: GC06M033541

BCL2-Antagonist/Killer 1


(Previous symbol: CDN1)
  See BAK1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BCL2-Antagonist/Killer 11 2     BAK-LIKE2
CDN11 2 3     Bcl-2 Homologous Antagonist/Killer2
Apoptosis Regulator BAK2 3     bcl2-L-72
Bcl-2-Like Protein 72 3     BCL2-Like 7 Protein2
BAK2 3     Pro-Apoptotic Protein BAK2
BCL2L72 3     Bcl2-L-73

External Ids:    HGNC: 9491   Entrez Gene: 5782   Ensembl: ENSG000000301107   OMIM: 6005165   UniProtKB: Q166113   

Export aliases for BAK1 gene to outside databases

Previous GC identifers: GC06M033542 GC06M033588 GC06M033489 GC06M033648 GC06M033281


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BAK1 Gene:
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)

GeneCards Summary for BAK1 Gene:
BAK1 (BCL2-antagonist/killer 1) is a protein-coding gene. Diseases associated with BAK1 include benign mammary dysplasia, and telangiectasis. GO annotations related to this gene include protein heterodimerization activity and protein homodimerization activity. An important paralog of this gene is BCL2.

UniProtKB/Swiss-Prot: BAK_HUMAN, Q16611
Function: In the presence of an appropriate stimulus, accelerates programmed cell death by binding to, and
antagonizing the anti-apoptotic action of BCL2 or its adenovirus homolog E1B 19k protein. Low micromolar levels
of zinc ions inhibit the promotion of apoptosis

Gene Wiki entry for BAK1 (Bcl-2 homologous antagonist killer) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BAK1 gene promoter:
         STAT5B   STAT1   Pax-5   p53   Sp1   HSF1 (long)   STAT1beta   STAT1alpha   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BAK1 promoter sequence
   Search Chromatin IP Primers for BAK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BAK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p21.31

BAK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAK1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M033541:  view genomic region     (about GC identifiers)

Start:
33,540,323 bp from pter      End:
33,548,070 bp from pter
Size:
7,748 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BAK_HUMAN, Q16611 (See protein sequence)
Recommended Name: Bcl-2 homologous antagonist/killer  
Size: 211 amino acids; 23409 Da
Subunit: Interacts with BCL2A1 (By similarity). Homodimer. Formation of the homodimer is zinc-dependent. Forms
heterodimers with BCL2, E1B 19k protein, and BCL2L1 isoform Bcl-X(L). Interacts with myxoma virus protein M11L.
Interacts with BOP/C22orf29
Selected PDB 3D structures from and Proteopedia for BAK1 (see all 10):
1BXL (3D)        2IMS (3D)        2IMT (3D)        2JBY (3D)        2JCN (3D)        2M5B (3D)    
Secondary accessions: Q6I9T6 Q92533

Explore the universe of human proteins at neXtProt for BAK1: NX_Q16611

Explore proteomics data for BAK1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BAK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001179.1  
    ENSEMBL proteins: 
     ENSP00000363591   ENSP00000353878   ENSP00000391258  
    Reactome Protein details: Q16611

    BAK1 Human Recombinant Protein Products:

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    Novus Biologicals BAK1 Proteins
    Novus Biologicals BAK1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BAK1

     
    Search eBioscience for Proteins for BAK1 

     
    antibodies-online proteins for BAK1 (4 products) 

     
    antibodies-online peptides for BAK1

    BAK1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of BAK1
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    antibodies-online antibodies for BAK1 (129 products) 

    BAK1 Assay Products:

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    Cloud-Clone Corp. ELISAs for BAK1
    Cloud-Clone Corp. CLIAs for BAK1
    Search eBioscience for ELISAs for BAK1 
    antibodies-online kits for BAK1 (26 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR020728 Bcl2_BH3_motif_CS
     IPR026308 BAK
     IPR020717 Bcl2_BH1_motif_CS
     IPR020726 Bcl2_BH2_motif_CS
     IPR002475 Bcl2-like

    Graphical View of Domain Structure for InterPro Entry Q16611

    ProtoNet protein and cluster: Q16611

    1 Blocks protein domain: IPB000712 Apoptosis regulator Bcl-2 protein

    UniProtKB/Swiss-Prot: BAK_HUMAN, Q16611
    Domain: Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their
    interaction with anti-apoptotic members of the Bcl-2 family
    Similarity: Belongs to the Bcl-2 family


    Find genes that share domains with BAK1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BAK_HUMAN, Q16611
    Function: In the presence of an appropriate stimulus, accelerates programmed cell death by binding to, and
    antagonizing the anti-apoptotic action of BCL2 or its adenovirus homolog E1B 19k protein. Low micromolar levels
    of zinc ions inhibit the promotion of apoptosis

         Genatlas biochemistry entry for BAK1:
    BCL2-antagonist/killer 1,BAX subfamily

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10381623
    GO:0031072heat shock protein binding IEA--
    GO:0042802identical protein binding IPI15901672
    GO:0042803protein homodimerization activity IBA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with BAK1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BAK1:
     Increased HPV18 LCR reporter a 

         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bak1):
     behavior/neurological  cellular  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  limbs/digits/tail  mortality/aging  nervous system  normal 
     renal/urinary system  reproductive system  skeleton 

    Find genes that share phenotypes with BAK1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bak1tm1Thsn for BAK1

       genOway: Develop your customized and physiologically relevant rodent model for BAK1

    miRNA
    Products:
        
    miRTarBase miRNAs that target BAK1:
    hsa-mir-125b-5p (MIRT002394), hsa-mir-125a-5p (MIRT005350), hsa-mir-375 (MIRT019714), hsa-mir-92a-3p (MIRT048976)

    Block miRNA regulation of human, mouse, rat BAK1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BAK1 (see all 29):
    hsa-miR-320a hsa-miR-125a-5p hsa-miR-513a-5p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-1285 hsa-miR-340
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BAK1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: BAK1 (NM_001188)
    Sino Biological Human cDNA Clone for BAK1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAK1
    Addgene plasmids for BAK1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAK1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BAK_HUMAN, Q16611: Mitochondrion membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    endoplasmic reticulum2
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005739mitochondrion IDA9843949
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005829cytosol IEA--

    Find genes that share ontologies with BAK1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BAK1 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
    Activation and oligomerization of BAK protein0.00
    2Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Cellular Apoptosis Pathway0.85
    3Apoptosis (WikiPathways)
    Apoptosis0.38
    Apoptosis Modulation and Signaling0.38
    4Activation of BH3-only proteins
    Intrinsic Pathway for Apoptosis0.68
    5ERK Signaling
    Molecular Mechanisms of Cancer0.51


    Find genes that share SuperPaths with BAK1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for BAK1
        Apoptosis Signaling Pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BAK1
        Apoptotic Pathways Triggered By HIV1
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer
    Cellular Apoptosis Pathway

    1 Cell Signaling Technology (CST) Pathway for BAK1
        Apoptosis and Autophagy

    1 GeneGo (Thomson Reuters) Pathway for BAK1
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    5 BioSystems Pathways for BAK1
        Apoptosis
    Apoptosis Modulation and Signaling
    DNA damage response (only ATM dependent)
    Integrated Breast Cancer Pathway
    Direct p53 effectors

    2 Sino Biological Pathways for BAK1
        p53 Pathway
    Death Receptor Signaling

    1 Reactome Pathway for BAK1
        Activation and oligomerization of BAK protein


    3 Kegg Pathways  (Kegg details for BAK1):
        Protein processing in endoplasmic reticulum
    Viral carcinogenesis
    MicroRNAs in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BAK1: 
              Mitochondria in human mouse rat
              Autophagy in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BAK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BAK1 (Q166111, 2, 3 ENSP000003635914) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAXQ078121, 2, 3, ENSP000002932884EBI-519866,EBI-516580 MINT-6740900 MINT-7306728 MINT-6740894 I2D: score=5 STRING: ENSP00000293288
    BCL2L1Q078171, 3, ENSP000003025644EBI-519866,EBI-78035 I2D: score=6 STRING: ENSP00000302564
    BIDP559571, 3, ENSP000003188224EBI-519866,EBI-519672 I2D: score=3 STRING: ENSP00000318822
    ARHGDIAP525652, 3, ENSP000002693214MINT-8249234 I2D: score=2 STRING: ENSP00000269321
    MFN1Q8IWA42, 3, ENSP000002639694MINT-8258771 I2D: score=1 STRING: ENSP00000263969
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 57):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001776leukocyte homeostasis ----
    GO:0001782B cell homeostasis IEA--
    GO:0001783B cell apoptotic process IEA--
    GO:0001836release of cytochrome c from mitochondria IGI--
    GO:0001974blood vessel remodeling IEA--

    Find genes that share ontologies with BAK1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for BAK1 (see all 19)     About this table
    CompoundAction CAS #
    2,3-DCPE hydrochlorideSelectively induces apoptosis and downregulates Bcl-XL protein expression in various human cancer cells versus normal cells in vitro[418788-90-6]
    ABT-199Selective Bcl-2 inhibitor[1257044-40-8]
    ABT-263 (Navitoclax)orally sellecitive inhibitor of Bcl-2 family proteins[923564-51-6]
    ABT-737novel and potent inhibitor of BCL-2 family proteins[852808-04-9]
    Apogossypolone (ApoG2)pan Bcl-2 inhibitor[886578-07-0]
    AT-101R-(-) enantiomer of Gossypol acetic acid, binds with Bcl-2, Bcl-xL and Mcl-1[90141-22-3]
    Bax channel blockerPotent inhibitor of Bax-mediated mitochondrial cytochrome c release[335165-68-9]
    Bax inhibitor peptide P5Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria[579492-83-4]
    Bax inhibitor peptide V5Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria[579492-81-2]
    Bax inhibitor peptide, negative controlNegative control peptide for the Bax inhibitor peptides V5 and P5[1315378-74-5]

    Browse Tocris compounds for BAK1 (BAK)

    Selected Novoseek inferred chemical compound relationships for BAK1 gene (see all 53)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    noxa 81.6 9 18176116 (1), 17569614 (1), 18723481 (1), 17718901 (1) (see all 9)
    phosphatidylserine 54 1 19266285 (1)
    bortezomib 47.6 1 15767553 (1)
    dutp 45.9 1 12865785 (1)
    perillyl alcohol 41.7 6 12530055 (3), 9276644 (2)
    etoposide 39.8 4 9362454 (2), 18366759 (1), 16873896 (1)
    sanguinarine 35 2 16505117 (1), 17005319 (1)
    gossypol 34.3 1 15657349 (1)
    camptothecin 32 5 16794010 (2), 10692111 (1), 20223826 (1)
    resveratrol 31.6 6 16550006 (2), 12902349 (1), 17569614 (1), 17718901 (1)



    Find genes that share compounds with BAK1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BAK1 gene: 
    NM_001188.3  

    Unigene Cluster for BAK1:

    BCL2-antagonist/killer 1
    Hs.485139  [show with all ESTs]
    Unigene Representative Sequence: CR627020
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374467(uc003oer.3 uc003oes.3 uc003oet.3 uc010jvb.3 uc003oeu.3 uc011drj.1)
    ENST00000360661 ENST00000442998
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate BAK1 (see all 29):
    hsa-miR-320a hsa-miR-125a-5p hsa-miR-513a-5p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-1285 hsa-miR-340
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BAK1
    Clone
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    GenScript: all cDNA clones in your preferred vector: BAK1 (NM_001188)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BAK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAK1
    Addgene plasmids for BAK1 
    Primer
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    OriGene qPCR primer pairs and template standards for BAK1
    OriGene qSTAR qPCR primer pairs in human, mouse for BAK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BAK1
      QuantiTect SYBR Green Assays in human, mouse, rat BAK1
      QuantiFast Probe-based Assays in human, mouse, rat BAK1

    Additional mRNA sequence: 

    AK292093.1 AK293547.1 AK303422.1 BC004431.1 CR457419.1 CR627020.1 U16811.1 U23765.1 
    X84213.1 

    12 DOTS entries:

    DT.312432  DT.100853480  DT.101982299  DT.100810035  DT.95137351  DT.121304388  DT.100709501  DT.100810036 
    DT.121617957  DT.95137355  DT.97769031  DT.97846728 

    Selected AceView cDNA sequences (see all 231):

    BC004431 BU540950 BM855203 BU848927 BU848650 BQ060970 BQ070187 CD610886 
    AL559269 CA495326 BG696776 BC032789 CF530051 BE793110 BX362974 CR610168 
    BX385444 BQ059009 AU280497 CA489558 CR615881 BU849632 BX339629 CB151540 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    BAK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCTCACCT
    BAK1 Expression
    About this image


    BAK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Epithelial Cells
             Spinous Keratinocytes Stratified Epidermis
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Spinous Keratinocytes Stratified Epidermis
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
    BAK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BAK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485139

    UniProtKB/Swiss-Prot: BAK_HUMAN, Q16611
    Tissue specificity: Expressed in a wide variety of tissues, with highest levels in the heart and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BAK1: 
              Mitochondria in human mouse rat
              Autophagy in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BAK1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bak11 , 5 BCL2-antagonist/killer 11, 5 80.22(n)1
    77.51(a)1
      17 (13.65 cM)5
    120181  NM_007523.21  NP_031549.21 
     270198105 
    chicken
    (Gallus gallus)
    Aves BAK11 BCL2-antagonist/killer 1 69.08(n)
    61.84(a)
      419912  NM_001030920.1  NP_001026091.1 
    lizard
    (Anolis carolinensis)
    Reptilia BAK16
    BCL2-antagonist/killer 1
    62(a)
    1 ↔ 1
    4(123263467-123303953)


    ENSEMBL Gene Tree for BAK1 (if available)
    TreeFam Gene Tree for BAK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BAK1 gene
    BCL22  BCL2L22  BCL2L12  
    2 SIMAP similar genes for BAK1 using alignment to 2 protein entries:     BAK_HUMAN (see all proteins):
    DKFZp686D0345    BAK

    Find genes that share paralogs with BAK1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for BAK1
    PGOHUM00000242541


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BAK1 (see all 229)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1415886901,2
    --33539909(+) GGAAGC/GGGGAG 1 -- ds50010--------
    rs57456001,2
    C,H--33540150(-) CGTTCG/ACCCCT 1 -- ds50015Minor allele frequency- A:0.00NS EA 590
    rs2101341,2
    C,F,O,H--33540209(+) ATTCTG/AGAGGC 1 -- ds500141Minor allele frequency- A:0.28EA NS NA WA CSA 5410
    rs1811085661,2
    --33540234(+) TATTCA/TGTAAT 1 -- ds50010--------
    rs800658551,2
    C,F--33540340(+) GATTGC/TACAGT 1 -- ut311Minor allele frequency- T:0.02NA 120
    rs1504827291,2
    C--33540371(+) GATAGC/GGGGTG 1 -- ut310--------
    rs47113301,2
    C,A--33540372(+) ATAGGA/GGGTGG 1 -- ut31 ese30--------
    rs10519641,2
    C--33540375(-) AGGCCA/CCCCCC 1 -- ut310--------
    rs1865062821,2
    --33540381(+) GGCCTA/CTGGGC 1 -- ut310--------
    rs47136351,2
    C,A--33540480(+) GCACTC/GTCACC 1 -- ut31 ese30--------

    HapMap Linkage Disequilibrium report for BAK1 (33540323 - 33548070 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BAK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv885770CNV Loss21882294
    nsv519079CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BAK1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600516    OMIM disorders: --

    6 diseases for BAK1:    
    About MalaCards
    benign mammary dysplasia    telangiectasis    odontogenic myxoma    colorectal cancer
    pancreatic cancer    prostate cancer

    1 disease from the University of Copenhagen DISEASES database for BAK1:
    Telangiectasis

    Find genes that share disorders with BAK1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for BAK1 gene (see all 61)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glaucoma absolute 57.3 3 15638362 (2), 15510481 (1)
    tumors 49.8 75 10457328 (5), 17476972 (5), 8909234 (3), 16781827 (2) (see all 34)
    cancer 49 24 12120204 (3), 17047195 (2), 10706081 (2), 10969770 (2) (see all 15)
    necrosis 42 17 10488411 (2), 16528364 (1), 17047195 (1), 10491014 (1) (see all 12)
    keratoacanthoma 41.6 1 9415228 (1)
    prostate cancer 36.4 16 16794010 (4), 17062688 (3), 9815595 (1), 12479363 (1) (see all 8)
    colon cancer 33.2 3 15824729 (1), 16847458 (1), 10911913 (1)
    nsclc 28 10 17688235 (3), 16410245 (3), 10070896 (2), 14499626 (2)
    lymphocytic leukemia chronic b-cell 28 2 12176904 (2)
    cancer lung 27 12 18800351 (2), 19320642 (2), 19381065 (2), 10070896 (1) (see all 6)

    Genetic Association Database (GAD): BAK1
    Human Genome Epidemiology (HuGE) Navigator: BAK1 (19 documents)

    Export disorders for BAK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BAK1 gene, integrated from 10 sources (see all 647):
    (articles sorted by number of sources associating them with BAK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Modulation of apoptosis by the widely distributed Bcl-2 homologue Bak. (PubMed id 7715731)1, 2, 3, 9 Kiefer M.C.... Barr P.J. (Nature 1995)
    2. Induction of apoptosis by the Bcl-2 homologue Bak. (PubMed id 7715730)1, 2, 3 Chittenden T.... Guild B.C. (Nature 1995)
    3. BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia. (PubMed id 19898928)1, 4, 9 Isaian A....Sanati M.H. (J. Clin. Immunol. 2010)
    4. A conserved domain in Bak, distinct from BH1 and BH2, mediates cell death and protein binding functions. (PubMed id 8521816)1, 2, 9 Chittenden T.... Lutz R.J. (EMBO J. 1995)
    5. A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. (PubMed id 22423221)1, 4 Qayyum R....Reiner A.P. (PLoS Genet. 2012)
    6. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PubMed id 20855536)1, 4 Kelly J.L....Cerhan J.R. (amp 2010)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Bcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women. (PubMed id 19282307)1, 4 Delgado-Vega A.M....Anaya J.M. (Ann. Rheum. Dis. 2010)
    9. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    10. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 578 HGNC: 949 AceView: BAK1 Ensembl:ENSG00000030110 euGenes: HUgn578
    ECgene: BAK1 Kegg: 578 H-InvDB: BAK1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BAK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BAK1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/bak1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BAK1 gene:
    Search GeneIP for patents involving BAK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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