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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAK1 Gene

protein-coding   GIFtS: 69
GCID: GC06M033541

BCL2-Antagonist/Killer 1


(Previous symbol: CDN1)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Mitochondrial Apoptosis and Apoptosis. GO annotations related to this gene include protein homodimerization activity and identical protein binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for BAK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion membrane; Single-pass membrane protein (Potential)
6/10 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16611

  • BAK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BAK1 Protein Expression
    REFSEQ proteins: NP_001179.1  
    ENSEMBL proteins: 
     ENSP00000363591   ENSP00000353878   ENSP00000391258  
    Reactome Protein details: Q16611
    Human Recombinant Protein Products for BAK1: 
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    OriGene Protein Over-expression Lysate for BAK1
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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 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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--

    BAK1 for ontologies           About GeneDecksing



    BAK1 Antibody Products: 
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    Assay Products for BAK1: 
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    Cloud-Clone Corp. ELISAs for BAK1 
    Cloud-Clone Corp. CLIAs for BAK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR020728 Bcl2_BH3_motif_CS
     IPR002475 Bcl2-like
     IPR026298 Blc2_fam
     IPR026308 BAK
     IPR020717 Bcl2_BH1_motif_CS

    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


    BAK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/8 molecular function terms (GO ID links to tree view) (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 IEA--
    GO:0046872metal ion binding IEA--
         
    BAK1 for ontologies           About GeneDecksing


    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 

    BAK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bak1tm1Thsn for BAK1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BAK1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BAK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BAK1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BAK1 

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BAK1
    8/29 QIAGEN miScript miRNA 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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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of BAK1 

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


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BAK1 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Cellular Apoptosis Pathway0.85
    2Apoptosis Modulation and Signaling
    Apoptosis0.38
    Apoptosis Modulation and Signaling0.38
    3Activation of BH3-only proteins
    Intrinsic Pathway for Apoptosis0.63
    4Rho Family GTPases
    Molecular Mechanisms of Cancer0.51
    5Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for BAK1
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    1 R&D Systems Pathway for BAK1
        Apoptosis Signaling Pathways

    4 Downloadable PowerPoint Slides of QIAGEN 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

    3        Reactome Pathways for BAK1
        Intrinsic Pathway for Apoptosis
    Activation and oligomerization of BAK protein
    Apoptosis


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


    BAK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BAK1

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

    5/46 Interacting proteins for BAK1 (Q166111, 2, 3 ENSP000003635914) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    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
    ARHGDIAP525652, 3, ENSP000002693214MINT-8249234 I2D: score=2 STRING: ENSP00000269321
    MFN1Q8IWA42, 3, ENSP000002639694MINT-8258771 I2D: score=1 STRING: ENSP00000263969
    DBN1Q166432, 3MINT-8249245 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/51 biological process terms (GO ID links to tree view) (see all 51):    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--

    BAK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BAK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BAK1 (BAK)

    10/53 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)

    Search CenterWatch for drugs/clinical trials and news about BAK1 / BAK

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/29 QIAGEN miScript miRNA 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
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      QIAGEN 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 

    24/231 AceView cDNA sequences (see all 231):

    CR600490 BG315161 BG752155 AL536162 CA489558 AU280497 BC004431 CR615881 
    BX339629 BX385444 BI089592 BU849632 BQ052127 BE793110 BI060052 BG696776 
    AU076473 CD610886 BU540950 CF530051 AI197795 BU543017 BQ054099 CR608985 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BAK1 expression in normal human tissues (normalized intensities)      BAK1 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Spinous Keratinocytes Stratified Epidermis
     
     Intestine (Gastrointestinal Tract)
             ileum   
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal

    See BAK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BAK1

    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

        SABiosciences Expression via Pathway-Focused 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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAK1

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BAK1 gene from 4/9 species (see all 9)    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 68.92(n)
    61.84(a)
      419912  NM_001030920.1  NP_001026091.1 
    lizard
    (Anolis carolinensis)
    Reptilia BAK16
    --
    Uncharacterized protein
    60(a)
    19(a)
    1 ↔ 1
    possible ortholog
    4(123263467-123303953)
    GL343287.1(852-3936)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1539936
    baxb6
    (see all 3)
    bcl2-associated X protein, b
    (see all 3)
    23(a)
    16(a)
    (see all 3)
    possible ortholog
    1 ↔ many
    (see all 3)
    7(54755948-54779600)
    3(32211782-32216892)


    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)
    About This Section
    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

    BAK1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/229 SNPs in BAK1 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600516    OMIM disorders: --

    20/90 diseases for BAK1 (see all 90):    About MalaCards
    benign mammary dysplasia    telangiectasis    keratoacanthoma    odontogenic myxoma
    subacute thyroiditis    laryngeal carcinoma    retinal ischemia    large cell carcinoma
    alcoholic pancreatitis    varicocele    familial colorectal cancer    laryngitis
    non-hodgkin lymphoma    hodgkin's lymphoma    papilloma    t cell deficiency
    cervical cancer    vaccinia    abdominal aortic aneurysm    stomatitis

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

    BAK1 for disorders           About GeneDecksing

    10/61 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)
    About This Section

    PubMed articles for BAK1 gene, integrated from 9 sources (see all 631):
    (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. (1995)
    2. Induction of apoptosis by the Bcl-2 homologue Bak. (PubMed id 7715730)1, 2, 3 Chittenden T.... Guild B.C. (1995)
    3. BAK, BAX, and NBK/BIK proapoptotic gene alterations i n iranian patients with ataxia telangiectasia. (PubMed id 19898928)1, 4, 9 Isaian A....Sanati M.H. (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. (1995)
    5. A meta-analysis and genome-wide association study of p latelet count and mean platelet volume in african americans. (PubMed id 22423221)1, 4 Qayyum R....Reiner A.P. (2012)
    6. Germline variation in apoptosis pathway genes and ris k of non-Hodgkin's lymphoma. (PubMed id 20855536)1, 4 Kelly J.L....Cerhan J.R. (2010)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    8. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    9. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 578 HGNC: 949 AceView: BAK1 Ensembl:ENSG00000030110 euGenes: HUgn578
    ECgene: BAK1 Kegg: 578 H-InvDB: BAK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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