Human Gene BCLAF1 (uc003qgx.1) Description and Page Index
  Description: Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.
RefSeq Summary (NM_014739): 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].
Transcript (Including UTRs)
   Position: hg19 chr6:136,578,001-136,610,989 Size: 32,989 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr6:136,582,248-136,601,004 Size: 18,757 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr6:136,578,001-136,610,989)mRNA (may differ from genome)Protein (920 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Bcl-2-associated transcription factor 1; Short=Btf;
FUNCTION: Death-promoting transcriptional repressor.
SUBUNIT: Interacts with Bcl-2 related proteins, EMD, with the adenovirus E1B 19 kDa protein and with DNA.
INTERACTION: P50402:EMD; NbExp=3; IntAct=EBI-437804, EBI-489887;
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;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BCLAF1
CDC HuGE Published Literature: BCLAF1

-  MalaCards Disease Associations
  MalaCards Gene Search: BCLAF1
Diseases sorted by gene-association score: giant axonal neuropathy (7), emery-dreifuss muscular dystrophy (7), superficial mycosis (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D004997 Ethinyl Estradiol
  • D013749 Tetrachlorodibenzodioxin
  • C049325 1,2-dithiol-3-thione
  • C495626 14-deoxy-11,12-didehydroandrographolide
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C012606 4-vinyl-1-cyclohexene dioxide
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000082 Acetaminophen
  • D016604 Aflatoxin B1
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.94 RPKM in Ovary
Total median expression: 945.63 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -69.10253-0.273 Picture PostScript Text
3' UTR -1026.004247-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026668 - Bcl-2_assoc_TF1

Pfam Domains:
PF15440 - THRAP3/BCLAF1 family

ModBase Predicted Comparative 3D Structure on Q9NYF8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043620 regulation of DNA-templated transcription in response to stress
GO:0045892 negative regulation of transcription, DNA-templated
GO:1990830 cellular response to leukemia inhibitory factor
GO:2000144 positive regulation of DNA-templated transcription, initiation
GO:2001022 positive regulation of response to DNA damage stimulus
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016607 nuclear speck

-  Descriptions from all associated GenBank mRNAs
  BX537576 - Homo sapiens mRNA; cDNA DKFZp686K24119 (from clone DKFZp686K24119).
D79986 - Homo sapiens KIAA0164 mRNA.
FW340045 - Screening.
LP895564 - Sequence 428 from Patent EP3253886.
BX648431 - Homo sapiens mRNA; cDNA DKFZp686G15253 (from clone DKFZp686G15253).
BX648878 - Homo sapiens mRNA; cDNA DKFZp686E18243 (from clone DKFZp686E18243).
JD318342 - Sequence 299366 from Patent EP1572962.
JD147340 - Sequence 128364 from Patent EP1572962.
JD235201 - Sequence 216225 from Patent EP1572962.
BX649160 - Homo sapiens mRNA; cDNA DKFZp686I0829 (from clone DKFZp686I0829).
JD147186 - Sequence 128210 from Patent EP1572962.
JD099363 - Sequence 80387 from Patent EP1572962.
BC132780 - Homo sapiens BCL2-associated transcription factor 1, mRNA (cDNA clone MGC:164411 IMAGE:40146802), complete cds.
BC144281 - Homo sapiens BCL2-associated transcription factor 1, mRNA (cDNA clone MGC:177818 IMAGE:9052801), complete cds.
BC144299 - Homo sapiens cDNA clone IMAGE:9052819.
BC144282 - Homo sapiens cDNA clone IMAGE:9052802, with apparent retained intron.
JD429809 - Sequence 410833 from Patent EP1572962.
JD553826 - Sequence 534850 from Patent EP1572962.
JD562475 - Sequence 543499 from Patent EP1572962.
JD301508 - Sequence 282532 from Patent EP1572962.
JD052201 - Sequence 33225 from Patent EP1572962.
JD223964 - Sequence 204988 from Patent EP1572962.
JD280167 - Sequence 261191 from Patent EP1572962.
JD327931 - Sequence 308955 from Patent EP1572962.
JD327930 - Sequence 308954 from Patent EP1572962.
AK315884 - Homo sapiens cDNA, FLJ79533 complete cds, highly similar to Bcl-2-associated transcription factor 1.
AK303559 - Homo sapiens cDNA FLJ52040 complete cds, highly similar to Mus musculus BCL2-associated transcription factor 1 (Bclaf1), transcript variant 3, mRNA.
JD494869 - Sequence 475893 from Patent EP1572962.
AK308870 - Homo sapiens cDNA, FLJ98911.
AF249273 - Homo sapiens Bcl-2-associated transcription factor short form mRNA, complete cds.
AB385290 - Synthetic construct DNA, clone: pF1KA0164, Homo sapiens BCLAF1 gene for BCL2-associated transcription factor 1, complete cds, without stop codon, in Flexi system.
AK309259 - Homo sapiens cDNA, FLJ99300.
BC063846 - Homo sapiens BCL2-associated transcription factor 1, mRNA (cDNA clone IMAGE:6501081), partial cds.
BC047887 - Homo sapiens BCL2-associated transcription factor 1, mRNA (cDNA clone IMAGE:6470751), partial cds.
BC047687 - Homo sapiens BCL2-associated transcription factor 1, mRNA (cDNA clone IMAGE:6021719), partial cds.
BC078160 - Homo sapiens BCL2-associated transcription factor 1, mRNA (cDNA clone IMAGE:6153817), partial cds.
BC016682 - Homo sapiens BCL2-associated transcription factor 1, mRNA (cDNA clone IMAGE:3923680), partial cds.
BC056894 - Homo sapiens BCL2-associated transcription factor 1, mRNA (cDNA clone IMAGE:6012257), partial cds.
JD269387 - Sequence 250411 from Patent EP1572962.
JD254478 - Sequence 235502 from Patent EP1572962.
JD246502 - Sequence 227526 from Patent EP1572962.
JD445443 - Sequence 426467 from Patent EP1572962.
JD330537 - Sequence 311561 from Patent EP1572962.
JD206761 - Sequence 187785 from Patent EP1572962.
JD038956 - Sequence 19980 from Patent EP1572962.
JD540441 - Sequence 521465 from Patent EP1572962.
JD419205 - Sequence 400229 from Patent EP1572962.
JD261907 - Sequence 242931 from Patent EP1572962.
JD250746 - Sequence 231770 from Patent EP1572962.
JD170630 - Sequence 151654 from Patent EP1572962.
JD345966 - Sequence 326990 from Patent EP1572962.
JD315829 - Sequence 296853 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A2RU75, B7ZM58, BCLF1_HUMAN, BTF, E1P586, KIAA0164, NM_014739, NP_055554, Q14673, Q86WU6, Q86WY0, Q9NYF8
UCSC ID: uc003qgx.1
RefSeq Accession: NM_014739
Protein: Q9NYF8 (aka BCLF1_HUMAN or BCF1_HUMAN)
CCDS: CCDS5177.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_014739.2
exon count: 13CDS single in 3' UTR: no RNA size: 7277
ORF size: 2763CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5665.00frame shift in genome: no % Coverage: 99.81
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.