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BCLAF1 Gene

protein-coding   GIFtS: 60
GCID: GC06M136578

BCL2-Associated Transcription Factor 1

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(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-Associated Transcription Factor 11 2
BTF2 3 5
KIAA01643 5
bK211L9.12
Bcl-2-Associated Transcription Factor 12
Btf3

External Ids:    HGNC: 168631   Entrez Gene: 97742   Ensembl: ENSG000000293637   OMIM: 6125885   UniProtKB: Q9NYF83   

Export aliases for BCLAF1 gene to outside databases

Previous GC identifers: GC06M136560 GC06M136621 GC06M134142


(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 BCLAF1 Gene:
This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins.
Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The
protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear
envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for BCLAF1 Gene:
BCLAF1 (BCL2-associated transcription factor 1) is a protein-coding gene. An important paralog of this gene is CXorf23.

UniProtKB/Swiss-Prot: BCLF1_HUMAN, Q9NYF8
Function: Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the
SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA

Gene Wiki entry for BCLAF1 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_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BCLAF1 gene promoter:
         Nkx3-1 v4   STAT1   Sp1   STAT5A   NF-kappaB   YY1   Nkx3-1 v2   NF-kappaB2   Nkx3-1 v3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BCLAF1 promoter sequence
   Search Chromatin IP Primers for BCLAF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCLAF1


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

Entrez Gene cytogenetic band: 6q22-q23   Ensembl cytogenetic band:  6q23.3   HGNC cytogenetic band: 6q22-q23

BCLAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCLAF1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M136578:  view genomic region     (about GC identifiers)

Start:
136,578,001 bp from pter      End:
136,610,989 bp from pter
Size:
32,989 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BCLF1_HUMAN, Q9NYF8 (See protein sequence)
Recommended Name: Bcl-2-associated transcription factor 1  
Size: 920 amino acids; 106122 Da
Subunit: Interacts with Bcl-2 related proteins, EMD, with the adenovirus E1B 19 kDa protein and with DNA.
Component of the SNARP complex which consists at least of SNIP1, SNW1, THRAP3, BCLAF1 and PNN
Sequence caution: Sequence=AAH47687.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH47887.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH56894.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH63846.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA11481.2; Type=Erroneous initiation;
Secondary accessions: A2RU75 B7ZM58 E1P586 Q14673 Q86WU6 Q86WY0
Alternative splicing: 4 isoforms:  Q9NYF8-1   Q9NYF8-2   Q9NYF8-3   Q9NYF8-4   

Explore the universe of human proteins at neXtProt for BCLAF1: NX_Q9NYF8

Explore proteomics data for BCLAF1 at MOPED

Post-translational modifications: 

  • Citrullinated by PADI4 (By similarity)1
  • Ubiquitination2 at Lys421, Lys517, Lys567, Lys593, Lys622, Lys845
  • Modification sites at PhosphoSitePlus

  • See BCLAF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001070908.1  NP_001070909.1  NP_055554.1  

    ENSEMBL proteins: 
     ENSP00000435210   ENSP00000437333   ENSP00000435441   ENSP00000436216   ENSP00000436501  
     ENSP00000434826   ENSP00000433822   ENSP00000433505   ENSP00000436142   ENSP00000437018  
     ENSP00000376159   ENSP00000431734   ENSP00000436913   ENSP00000229446   ENSP00000031135  

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    Cloud-Clone Corp. Proteins for BCLAF1

     
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    antibodies-online antibodies for BCLAF1 (52 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026668 Bcl-2_assoc_TF1

    Graphical View of Domain Structure for InterPro Entry Q9NYF8

    ProtoNet protein and cluster: Q9NYF8


    Find genes that share domains with BCLAF1           About GenesLikeMe


    (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,
    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: BCLF1_HUMAN, Q9NYF8
    Function: Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the
    SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA10330179
    GO:0005515protein binding IPI10837489
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with BCLAF1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BCLAF1:
     Increased S DNA content 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bclaf1):
     behavior/neurological  cellular  growth/size/body  hematopoietic system  immune system 
     limbs/digits/tail  mortality/aging  no phenotypic analysis  respiratory system 

    Find genes that share phenotypes with BCLAF1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bclaf1tm1Raz for BCLAF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCLAF1
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    miRNA
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    miRTarBase miRNAs that target BCLAF1:
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    Block miRNA regulation of human, mouse, rat BCLAF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCLAF1 (see all 71):
    hsa-miR-411* hsa-miR-579 hsa-miR-218-1* hsa-miR-371-5p hsa-miR-29a* hsa-miR-3148 hsa-miR-425 hsa-miR-934
    SwitchGear 3'UTR luciferase reporter plasmidBCLAF1 3' UTR sequence
    Inhib. RNA
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    (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
    BCLF1_HUMAN, Q9NYF8: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with BCLAF1           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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        Pathway & Disease-focused RT2 Profiler PCR Array including BCLAF1: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BCLAF1

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

    Selected Interacting proteins for BCLAF1 (Q9NYF81, 2, 3 ENSP000000311354) via UniProtKB, MINT, STRING, and/or I2D (see all 797)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRRM1Q8IYB32, 3, ENSP000003262614MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000326261
    TLN1Q9Y4902, 3MINT-7945693 MINT-7947479 I2D: score=1 
    BCL2P104151, 3, ENSP000003296234EBI-437804,EBI-77694 I2D: score=2 STRING: ENSP00000329623
    EMDP504021, 3, ENSP000003588574EBI-437804,EBI-489887 I2D: score=3 STRING: ENSP00000358857
    YWHAGP619812, 3, ENSP000003063304MINT-50830 I2D: score=4 STRING: ENSP00000306330
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006915apoptotic process TAS10330179
    GO:0043065positive regulation of apoptotic process IDA10330179
    GO:0043620regulation of DNA-templated transcription in response to stress IMP17938203
    GO:0045892negative regulation of transcription, DNA-templated TAS10330179

    Find genes that share ontologies with BCLAF1           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
      Browse compounds at ApexBio 

    Browse Tocris compounds for BCLAF1 (BCLF1)



    (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 BCLAF1 gene (3 alternative transcripts): 
    NM_001077440.1  NM_001077441.1  NM_014739.2  

    Unigene Cluster for BCLAF1:

    BCL2-associated transcription factor 1
    Hs.486542  [show with all ESTs]
    Unigene Representative Sequence: NM_014739
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000531224(uc003qgw.1 uc003qgx.1 uc011edc.1 uc011edd.1 uc011ede.1)
    ENST00000533422 ENST00000527536 ENST00000527613 ENST00000530767 ENST00000527759
    ENST00000534269 ENST00000529522 ENST00000532384 ENST00000530429 ENST00000534762
    ENST00000529917 ENST00000392348 ENST00000526228 ENST00000534321 ENST00000534792
    ENST00000532076 ENST00000529826
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate BCLAF1 (see all 71):
    hsa-miR-411* hsa-miR-579 hsa-miR-218-1* hsa-miR-371-5p hsa-miR-29a* hsa-miR-3148 hsa-miR-425 hsa-miR-934
    SwitchGear 3'UTR luciferase reporter plasmidBCLAF1 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat BCLAF1

    Additional mRNA sequence: 

    AF249273.1 AK303559.1 AK308870.1 AK309259.1 AK315884.1 BC016682.1 BC047687.1 BC047887.1 
    BC056894.1 BC063846.1 BC078160.1 BC132780.1 BC144281.1 BC144282.1 BC144299.1 BX537576.1 
    BX648431.1 BX648878.1 BX649160.1 D79986.1 

    Selected DOTS entries (see all 29):

    DT.95180039  DT.95259226  DT.101981790  DT.100808106  DT.95259223  DT.100651567  DT.452193  DT.121375649 
    DT.121375679  DT.121375659  DT.95240289  DT.120869120  DT.121375644  DT.121375663  DT.121375671  DT.95259232 
    DT.100824869  DT.100824871  DT.100824873  DT.120810739  DT.120872090  DT.121375680  DT.121375688  DT.75196453 

    Selected AceView cDNA sequences (see all 538):

    CA777319 CA420097 BE503681 AA410513 BQ431125 BU630213 BU076643 AA076156 
    CB133923 BC047887 CA389486 AW769253 BC063846 CD238079 BU167204 CA396342 
    AW589922 BE504245 BM705652 CA445039 BQ024929 AA736860 BX649160 AA551898 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BCLAF1 (see all 14)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b · 13c ^
    SP1:                                                                                                        -                             -     -               
    SP2:                                                                                                        -                             -     -               
    SP3:                                                                    -     -     -                                                                           
    SP4:                                                              -     -     -     -                       -                                                   
    SP5:                                                                                                                                            -               

    ExUns: 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
    SP1:                                                
    SP2:  -     -                                       
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for BCLAF1

    (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)
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    BCLAF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCTTTAGG
    BCLAF1 Expression
    About this image


    BCLAF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    BCLAF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCLAF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.486542

    UniProtKB/Swiss-Prot: BCLF1_HUMAN, Q9NYF8
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including BCLAF1: 
              Apoptosis 384HT in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat BCLAF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCLAF1

    (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 BCLAF1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bclaf11 , 5 BCL2-associated transcription factor 11, 5 92.08(n)1
    96.29(a)1
      10 (9.75 cM)5
    725671  NM_001025392.11  NP_001020563.11 
     203124695 
    chicken
    (Gallus gallus)
    Aves BCLAF11 BCL2-associated transcription factor 1 86.6(n)
    90.36(a)
      100858086  XM_003640922.2  XP_003640970.2 
    lizard
    (Anolis carolinensis)
    Reptilia BCLAF16
    BCL2-associated transcription factor 1
    85(a)
    1 ↔ 1
    GL343200.1(2482752-2509947)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.245642 Xenopus laevis transcribed sequence with weak similarity more 79.78(n)    CB200353.2 


    ENSEMBL Gene Tree for BCLAF1 (if available)
    TreeFam Gene Tree for BCLAF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BCLAF1 gene
    CXorf232  THRAP32  
    1 SIMAP similar gene for BCLAF1 using alignment to 11 protein entries:     BCLF1_HUMAN (see all proteins):
    THRAP3

    Find genes that share paralogs with BCLAF1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for BCLAF1
    PGOHUM00000259288 PGOHUM00000235352


    (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 BCLAF1 (see all 798)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910129031,2
    C--136577765(+) GAGCCA/GAGCTC 3 -- ds50010--------
    rs754417581,2
    C--136577802(+) GACTCA/CATCTC 3 -- ds50010--------
    rs351959681,2
    C--136577808(+) AATAA-/AATA/AAT
    AAATA
    /ATAA
    TTCAA
    3 -- ds50011NA 2
    rs1831237361,2
    --136577849(+) AATAAA/TTCAAA 3 -- ds50010--------
    rs1483967401,2
    C--136577967(+) AGTGA-/AGGAGGAC 3 -- cds10--------
    rs1424016831,2
    C--136577990(+) ATAATC/TCACTA 3 -- ds50010--------
    rs1513093981,2
    --136578037(+) CTCTTC/TGCATT 3 -- ut310--------
    rs94839221,2
    H--136578047(+) TCCATG/AAAATT 3 -- ut314Minor allele frequency- A:0.00NS EA 418
    rs1868919491,2
    --136578107(+) AAATCA/TTTTCA 3 -- ut310--------
    rs1914397701,2
    --136578177(+) TATTAA/GTGAAA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for BCLAF1 (136578001 - 136610989 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BCLAF1 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1063e201CNV Deletion23290073
    esv2732752CNV Deletion23290073
    esv2732747CNV Deletion23290073
    dgv1065e201CNV Deletion23290073
    esv990963CNV Deletion20482838
    esv2732749CNV Deletion23290073
    esv2732751CNV Deletion23290073
    esv2732748CNV Deletion23290073
    esv2732746CNV Deletion23290073
    esv2732753CNV Deletion23290073

    Human Gene Mutation Database (HGMD): BCLAF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BCLAF1
    DNA2.0 Custom Variant and Variant Library Synthesis for BCLAF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612588    OMIM disorders: --


    Find genes that share disorders with BCLAF1           About GenesLikeMe

    Genetic Association Database (GAD): BCLAF1
    Human Genome Epidemiology (HuGE) Navigator: BCLAF1 (1 document)

    Export disorders for BCLAF1 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 BCLAF1 gene, integrated from 10 sources (see all 69):
    (articles sorted by number of sources associating them with BCLAF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Btf, a novel death-promoting transcriptional repressor that interacts with Bcl-2-related proteins. (PubMed id 10330179)1, 2, 3 Kasof G.M.... White E. (Mol. Cell. Biol. 1999)
    2. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8724849)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1996)
    3. 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)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. (PubMed id 15009215)1, 2 Haraguchi T.... Hiraoka Y. (Eur. J. Biochem. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    8. Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier-to-autointegration factor. (PubMed id 15681850)1, 9 Mansharamani M. and Wilson K.L. (J. Biol. Chem. 2005)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 9774 HGNC: 16863 AceView: BCLAF1 Ensembl:ENSG00000029363 euGenes: HUgn9774
    ECgene: BCLAF1 H-InvDB: BCLAF1

    (According to HUGE)
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    HUGE: KIAA0164

    (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 BCLAF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCLAF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BCLAF1 gene:
    Search GeneIP for patents involving BCLAF1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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