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Aliases for BCLAF1 Gene

Aliases for BCLAF1 Gene

  • BCL2 Associated Transcription Factor 1 2 3 5
  • BCLAF1 And THRAP3 Family Member 1 2 3
  • BTF 3 4
  • Bcl-2-Associated Transcription Factor 1 3
  • BCL2-Associated Transcription Factor 1 2
  • BK211L9.1 3
  • KIAA0164 4

External Ids for BCLAF1 Gene

Previous GeneCards Identifiers for BCLAF1 Gene

  • GC06M136560
  • GC06M136621
  • GC06M134142
  • GC06M136578

Summaries for BCLAF1 Gene

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. Diseases associated with BCLAF1 include Giant Axonal Neuropathy and Emery-Dreifuss Muscular Dystrophy. Among its related pathways are Interactome of polycomb repressive complex 2 (PRC2). GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is THRAP3.

UniProtKB/Swiss-Prot for BCLAF1 Gene

  • Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3end of the CCND1 gene and its mRNA.

Gene Wiki entry for BCLAF1 Gene

Additional gene information for BCLAF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCLAF1 Gene

Genomics for BCLAF1 Gene

Regulatory Elements for BCLAF1 Gene

Enhancers for BCLAF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H136286 1.4 ENCODE dbSUPER 67.6 +1.5 1530 5 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 BCLAF1 ENSG00000216519 HMGB1P17 MAP7 ENSG00000234084 MTFR2
GH06H136782 1.7 FANTOM5 ENCODE dbSUPER 50.6 -497.2 -497183 12 HDGF FOXA2 PKNOX1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF766 BCLAF1 PEX7 ENSG00000216519 IFNGR1 MAP3K5 LOC101928429
GH06H136760 1.8 FANTOM5 Ensembl ENCODE dbSUPER 39.2 -474.0 -473972 9 HDGF PKNOX1 YBX1 GATA2 ATF7 RUNX3 JUNB ZNF592 SMARCA4 NBN BCLAF1 PEX7 MAP3K5 LOC101928461 RNA5SP219 LOC101928429
GH06H136248 1.1 ENCODE 62 +40.5 40476 2 HNRNPUL1 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 BCLAF1 MAP7 MTFR2 ENSG00000237596
GH06H137215 1.4 ENCODE dbSUPER 35.8 -927.5 -927488 5 HDGF FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 BCLAF1 MAP7 ARFGEF3 IFNGR1 GC06P137209
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCLAF1 on UCSC Golden Path with GeneCards custom track

Promoters for BCLAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000203474 1045 2801 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610

Genomic Location for BCLAF1 Gene

Chromosome:
6
Start:
136,256,627 bp from pter
End:
136,290,645 bp from pter
Size:
34,019 bases
Orientation:
Minus strand

Genomic View for BCLAF1 Gene

Genes around BCLAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCLAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCLAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCLAF1 Gene

Proteins for BCLAF1 Gene

  • Protein details for BCLAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYF8-BCLF1_HUMAN
    Recommended name:
    Bcl-2-associated transcription factor 1
    Protein Accession:
    Q9NYF8
    Secondary Accessions:
    • A2RU75
    • B7ZM58
    • E1P586
    • Q14673
    • Q86WU6
    • Q86WY0

    Protein attributes for BCLAF1 Gene

    Size:
    920 amino acids
    Molecular mass:
    106122 Da
    Quaternary structure:
    • 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. Component of the WTAP complex composed of WTAP, ZC3H13, CBLL1, KIAA1429, RBM15, BCLAF1 and THRAP3.
    SequenceCaution:
    • Sequence=AAH47687.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH47887.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH56894.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH63846.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA11481.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for BCLAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCLAF1 Gene

Post-translational modifications for BCLAF1 Gene

  • Citrullinated by PADI4.
  • Ubiquitination at Lys517, Lys567, posLast=593593, posLast=622622, and Lys845
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for BCLAF1

No data available for DME Specific Peptides for BCLAF1 Gene

Domains & Families for BCLAF1 Gene

Gene Families for BCLAF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for BCLAF1 Gene

Suggested Antigen Peptide Sequences for BCLAF1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BCLAF1: view

No data available for UniProtKB/Swiss-Prot for BCLAF1 Gene

Function for BCLAF1 Gene

Molecular function for BCLAF1 Gene

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

Gene Ontology (GO) - Molecular Function for BCLAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 10330179
GO:0003723 RNA binding IDA 22658674
GO:0005515 protein binding IPI 10837489
genes like me logo Genes that share ontologies with BCLAF1: view
genes like me logo Genes that share phenotypes with BCLAF1: view

Animal Models for BCLAF1 Gene

MGI Knock Outs for BCLAF1:

Animal Model Products

  • Taconic Biosciences Mouse Models for BCLAF1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BCLAF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCLAF1 Gene

Localization for BCLAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCLAF1 Gene

Cytoplasm. Nucleus. Nucleus speckle. Nucleus, nucleoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCLAF1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCLAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10330179
GO:0005654 nucleoplasm IDA,IEA 24100041
GO:0005737 cytoplasm IEA --
GO:0016607 nuclear speck IDA 24100041
genes like me logo Genes that share ontologies with BCLAF1: view

Pathways & Interactions for BCLAF1 Gene

genes like me logo Genes that share pathways with BCLAF1: view

Pathways by source for BCLAF1 Gene

1 BioSystems pathway for BCLAF1 Gene

Gene Ontology (GO) - Biological Process for BCLAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IEA,TAS 10330179
GO:0043065 positive regulation of apoptotic process IDA 10330179
GO:0043620 regulation of DNA-templated transcription in response to stress IMP 17938203
genes like me logo Genes that share ontologies with BCLAF1: view

No data available for SIGNOR curated interactions for BCLAF1 Gene

Drugs & Compounds for BCLAF1 Gene

No Compound Related Data Available

Transcripts for BCLAF1 Gene

Unigene Clusters for BCLAF1 Gene

BCL2-associated transcription factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BCLAF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BCLAF1 Gene

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: -
SP6:
SP7: -
SP8: -
SP9:
SP10: - -
SP11:
SP12:
SP13:
SP14:

ExUns: 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1:
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:

Relevant External Links for BCLAF1 Gene

GeneLoc Exon Structure for
BCLAF1
ECgene alternative splicing isoforms for
BCLAF1

Expression for BCLAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCLAF1 Gene

Protein differential expression in normal tissues from HIPED for BCLAF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.1) and Fetal testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BCLAF1 Gene



Protein tissue co-expression partners for BCLAF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BCLAF1 Gene:

BCLAF1

SOURCE GeneReport for Unigene cluster for BCLAF1 Gene:

Hs.486542

mRNA Expression by UniProt/SwissProt for BCLAF1 Gene:

Q9NYF8-BCLF1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for BCLAF1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Blood(4.4)
  • Bone marrow(4.4)
  • Pancreas(4.4)
  • Lung(2.4)
  • Intestine(2.3)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with BCLAF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCLAF1 Gene

Orthologs for BCLAF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCLAF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCLAF1 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia BCLAF1 33 34
  • 96.69 (n)
cow
(Bos Taurus)
Mammalia BCLAF1 33 34
  • 96.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BCLAF1 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bclaf1 33 16 34
  • 92.08 (n)
rat
(Rattus norvegicus)
Mammalia Bclaf1 33
  • 91.59 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves BCLAF1 33 34
  • 86.6 (n)
lizard
(Anolis carolinensis)
Reptilia BCLAF1 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bclaf1 33
  • 64.09 (n)
Str.20167 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24564 33
Species where no ortholog for BCLAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BCLAF1 Gene

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

Paralogs for BCLAF1 Gene

Paralogs for BCLAF1 Gene

Pseudogenes.org Pseudogenes for BCLAF1 Gene

genes like me logo Genes that share paralogs with BCLAF1: view

Variants for BCLAF1 Gene

Sequence variations from dbSNP and Humsavar for BCLAF1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000005090 -- 136,272,408(+) AGGAT(C/T)ATTTG intron-variant
rs1000028179 -- 136,287,049(+) GCACA(A/G)GAATC intron-variant
rs1000116163 -- 136,265,579(+) CCTTG(G/T)ACTCA intron-variant
rs1000231232 -- 136,265,321(+) CCCAG(A/G)CACTT intron-variant
rs1000284641 -- 136,274,038(+) TCAAT(C/G)ATAAT intron-variant, nc-transcript-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for BCLAF1 Gene

Variant ID Type Subtype PubMed ID
dgv1016e201 CNV deletion 23290073
dgv1017e201 CNV deletion 23290073
dgv1018e201 CNV deletion 23290073
dgv3398n106 CNV deletion 24896259
dgv3399n106 CNV deletion 24896259
dgv3400n106 CNV deletion 24896259
dgv3401n106 CNV deletion 24896259
esv1925105 CNV deletion 18987734
esv2063708 CNV deletion 18987734
esv2161601 CNV deletion 18987734
esv2673118 CNV deletion 23128226
esv2732746 CNV deletion 23290073
esv2732747 CNV deletion 23290073
esv2732748 CNV deletion 23290073
esv2732749 CNV deletion 23290073
esv2732751 CNV deletion 23290073
esv2732752 CNV deletion 23290073
esv2732753 CNV deletion 23290073
esv3540516 CNV deletion 23714750
esv3540517 CNV deletion 23714750
esv3540518 CNV deletion 23714750
esv3540519 CNV deletion 23714750
esv4525 CNV loss 18987735
esv6857 CNV loss 19470904
esv9082 CNV loss 19470904
esv990963 CNV deletion 20482838
nsv1074018 CNV deletion 25765185
nsv1074019 CNV deletion 25765185
nsv1074963 CNV deletion 25765185
nsv1109375 CNV deletion 24896259
nsv1111702 CNV deletion 24896259
nsv1114873 CNV deletion 24896259
nsv1121355 CNV deletion 24896259
nsv1124119 CNV deletion 24896259
nsv1137154 CNV deletion 24896259
nsv1152883 CNV deletion 26484159
nsv476857 CNV novel sequence insertion 20440878
nsv955786 CNV deletion 24416366
nsv955800 CNV deletion 24416366
nsv955912 CNV deletion 24416366
nsv956508 CNV deletion 24416366
nsv956934 CNV deletion 24416366
nsv965770 CNV duplication 23825009
nsv965771 CNV duplication 23825009

Variation tolerance for BCLAF1 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.75; 93.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCLAF1 Gene

Human Gene Mutation Database (HGMD)
BCLAF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCLAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCLAF1 Gene

Disorders for BCLAF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BCLAF1 Gene - From: HGMD, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BCLAF1

Genetic Association Database (GAD)
BCLAF1
Human Genome Epidemiology (HuGE) Navigator
BCLAF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCLAF1
genes like me logo Genes that share disorders with BCLAF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCLAF1 Gene

Publications for BCLAF1 Gene

  1. Btf, a novel death-promoting transcriptional repressor that interacts with Bcl-2-related proteins. (PMID: 10330179) Kasof GM … White E (Molecular and cellular biology 1999) 2 3 4 60
  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. (PMID: 8724849) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 60
  3. Identification of Wilms' tumor 1-associating protein complex and its role in alternative splicing and the cell cycle. (PMID: 24100041) Horiuchi K … Hamakubo T (The Journal of biological chemistry 2013) 3 4 60
  4. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PMID: 20855536) Kelly JL … Cerhan JR (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 45 60
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60

Products for BCLAF1 Gene

Sources for BCLAF1 Gene

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