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    BCLAF1 BCL2 associated transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 9774, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BCLAF1provided by HGNC
    Official Full Name
    BCL2 associated transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:16863
    See related
    Ensembl:ENSG00000029363 MIM:612588; AllianceGenome:HGNC:16863
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BTF; bK211L9.1
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 53.4), thyroid (RPKM 22.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BCLAF1 in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (136256627..136289846, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (137444735..137477958, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (136577765..136610984, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 7B Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:136388797-136389341 Neighboring gene PDE7B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25110 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:136609778-136610374 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:136610456-136611655 Neighboring gene uncharacterized LOC124901408 Neighboring gene mitochondrial fission regulator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:136655703-136656202 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 8 Neighboring gene microtubule associated protein 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Role of BCLAF-1 in PD-L1 stabilization in response to ionizing irradiation. Ma Z, et al. Cancer Sci, 2021 Oct. PMID 34251713, Free PMC Article
    2. The proapoptotic C16-ceramide-dependent pathway requires the death-promoting factor Btf in colon adenocarcinoma cells. Rénert AF, et al. J Proteome Res, 2009 Oct. PMID 19705920
    3. In search of a function for BCLAF1. Sarras H, et al. ScientificWorldJournal, 2010 Jul 20. PMID 20661537, Free PMC Article
    4. BclAF1 restriction factor is neutralized by proteasomal degradation and microRNA repression during human cytomegalovirus infection. Lee SH, et al. Proc Natl Acad Sci U S A, 2012 Jun 12. PMID 22645331, Free PMC Article
    5. BCLAF1 is a radiation-induced H2AX-interacting partner involved in γH2AX-mediated regulation of apoptosis and DNA repair. Lee YY, et al. Cell Death Dis, 2012 Jul 26. PMID 22833098, Free PMC Article

    See all (238) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MED23 depletion induces premature senescence in NSCLC cells by interacting with BCLAF1 and then suppressing NUPR1 expression.
      Title: MED23 depletion induces premature senescence in NSCLC cells by interacting with BCLAF1 and then suppressing NUPR1 expression.
    2. BCLAF1 is Expressed as a Potential Anti-oncogene in Bile Duct Cancer.
      Title: BCLAF1 is Expressed as a Potential Anti-oncogene in Bile Duct Cancer.
    3. CircZFR promotes colorectal cancer progression via stabilizing BCLAF1 and regulating the miR-3127-5p/RTKN2 axis.
      Title: CircZFR promotes colorectal cancer progression via stabilizing BCLAF1 and regulating the miR-3127-5p/RTKN2 axis.
    4. BCLAF1 drives esophageal squamous cell carcinoma progression through regulation of YTHDF2-dependent SIX1 mRNA degradation.
      Title: BCLAF1 drives esophageal squamous cell carcinoma progression through regulation of YTHDF2-dependent SIX1 mRNA degradation.
    5. BCLAF1 binds SPOP to stabilize PD-L1 and promotes the development and immune escape of hepatocellular carcinoma.
      Title: BCLAF1 binds SPOP to stabilize PD-L1 and promotes the development and immune escape of hepatocellular carcinoma.
    6. BCLAF1-induced HIF-1alpha accumulation under normoxia enhances PD-L1 treatment resistances via BCLAF1-CUL3 complex.
      Title: BCLAF1-induced HIF-1α accumulation under normoxia enhances PD-L1 treatment resistances via BCLAF1-CUL3 complex.
    7. TET2-BCLAF1 transcription repression complex epigenetically regulates the expression of colorectal cancer gene Ascl2 via methylation of its promoter.
      Title: TET2-BCLAF1 transcription repression complex epigenetically regulates the expression of colorectal cancer gene Ascl2 via methylation of its promoter.
    8. New insights from Whole Genome Sequencing: BCLAF1 deletion as a structural variant that predisposes cells towards cellular transformation.
      Title: New insights from Whole Genome Sequencing: BCLAF1 deletion as a structural variant that predisposes cells towards cellular transformation.
    9. Role of BCLAF-1 in PD-L1 stabilization in response to ionizing irradiation.
      Title: Role of BCLAF-1 in PD-L1 stabilization in response to ionizing irradiation.
    10. Bclaf1 is a direct target of HIF-1 and critically regulates the stability of HIF-1alpha under hypoxia.
      Title: Bclaf1 is a direct target of HIF-1 and critically regulates the stability of HIF-1α under hypoxia.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-06-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2018-06-28)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of BCL2-associated transcription factor 1 (BCLAF1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of BCL2-associated transcription factor 1 (BCLAF1) in Jurkat cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coregulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription initiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of mediator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    bcl-2-associated transcription factor 1
    Names
    BCLAF1 and THRAP3 family member 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001077440.3 → NP_001070908.1  bcl-2-associated transcription factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001070908.1

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Consensus CDS
      CCDS47486.1
      UniProtKB/Swiss-Prot
      Q9NYF8
      Related
      ENSP00000229446.5, ENST00000353331.8
      Conserved Domains (1) summary
      pfam15440
      Location:155 → 743
      THRAP3_BCLAF1; THRAP3/BCLAF1 family

    2. NM_001077441.3 → NP_001070909.1  bcl-2-associated transcription factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001070909.1

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Consensus CDS
      CCDS47485.1
      UniProtKB/Swiss-Prot
      Q9NYF8
      Related
      ENSP00000436501.1, ENST00000530767.5
      Conserved Domains (2) summary
      pfam15440
      Location:157 → 572
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:654 → 719
      Btz; CASC3/Barentsz eIF4AIII binding

    3. NM_001301038.3 → NP_001287967.1  bcl-2-associated transcription factor 1 isoform 4

      See identical proteins and their annotated locations for NP_001287967.1

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Consensus CDS
      CCDS75525.1
      UniProtKB/Swiss-Prot
      Q9NYF8
      Related
      ENSP00000434826.1, ENST00000527759.5
      Conserved Domains (2) summary
      pfam15440
      Location:155 → 743
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:825 → 890
      Btz; CASC3/Barentsz eIF4AIII binding

    4. NM_001363659.3 → NP_001350588.1  bcl-2-associated transcription factor 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Consensus CDS
      CCDS87444.1
      UniProtKB/TrEMBL
      E9PK91
      Related
      ENSP00000435441.1, ENST00000527536.5
      Conserved Domains (1) summary
      pfam15440
      Location:157 → 746
      THRAP3_BCLAF1; THRAP3/BCLAF1 family

    5. NM_001386693.1 → NP_001373622.1  bcl-2-associated transcription factor 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Conserved Domains (2) summary
      pfam15440
      Location:157 → 744
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:826 → 891
      Btz; CASC3/Barentsz eIF4AIII binding

    6. NM_001386694.1 → NP_001373623.1  bcl-2-associated transcription factor 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Related
      ENSP00000431734.1, ENST00000529826.5
      Conserved Domains (1) summary
      pfam15440
      Location:157 → 744
      THRAP3_BCLAF1; THRAP3/BCLAF1 family

    7. NM_001386695.1 → NP_001373624.1  bcl-2-associated transcription factor 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Conserved Domains (2) summary
      pfam15440
      Location:157 → 571
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:653 → 718
      Btz; CASC3/Barentsz eIF4AIII binding

    8. NM_001386696.1 → NP_001373625.1  bcl-2-associated transcription factor 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Conserved Domains (2) summary
      pfam15440
      Location:155 → 570
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:652 → 717
      Btz; CASC3/Barentsz eIF4AIII binding

    9. NM_001386697.1 → NP_001373626.1  bcl-2-associated transcription factor 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Conserved Domains (1) summary
      pfam15440
      Location:157 → 572
      THRAP3_BCLAF1; THRAP3/BCLAF1 family

    10. NM_001386698.1 → NP_001373627.1  bcl-2-associated transcription factor 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Conserved Domains (1) summary
      pfam15440
      Location:155 → 570
      THRAP3_BCLAF1; THRAP3/BCLAF1 family

    11. NM_001386699.1 → NP_001373628.1  bcl-2-associated transcription factor 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Conserved Domains (2) summary
      pfam15440
      Location:133 → 293
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:426 → 491
      Btz; CASC3/Barentsz eIF4AIII binding

    12. NM_001386700.1 → NP_001373629.1  bcl-2-associated transcription factor 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Consensus CDS
      CCDS5177.1
      UniProtKB/Swiss-Prot
      A2RU75, B7ZM58, E1P586, Q14673, Q86WU6, Q86WY0, Q9NYF8
      Conserved Domains (2) summary
      pfam15440
      Location:157 → 745
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:827 → 892
      Btz; CASC3/Barentsz eIF4AIII binding

    13. NM_001386701.1 → NP_001373630.1  bcl-2-associated transcription factor 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Consensus CDS
      CCDS5177.1
      UniProtKB/Swiss-Prot
      A2RU75, B7ZM58, E1P586, Q14673, Q86WU6, Q86WY0, Q9NYF8
      Conserved Domains (2) summary
      pfam15440
      Location:157 → 745
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:827 → 892
      Btz; CASC3/Barentsz eIF4AIII binding

    14. NM_001386702.1 → NP_001373631.1  bcl-2-associated transcription factor 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Consensus CDS
      CCDS47485.1
      Conserved Domains (2) summary
      pfam15440
      Location:157 → 572
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:654 → 719
      Btz; CASC3/Barentsz eIF4AIII binding

    15. NM_001386703.1 → NP_001373632.1  bcl-2-associated transcription factor 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Conserved Domains (2) summary
      pfam15440
      Location:155 → 570
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:652 → 717
      Btz; CASC3/Barentsz eIF4AIII binding

    16. NM_001386704.1 → NP_001373633.1  bcl-2-associated transcription factor 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Conserved Domains (1) summary
      pfam15440
      Location:157 → 572
      THRAP3_BCLAF1; THRAP3/BCLAF1 family

    17. NM_014739.3 → NP_055554.1  bcl-2-associated transcription factor 1 isoform 1

      See identical proteins and their annotated locations for NP_055554.1

      Status: REVIEWED

      Source sequence(s)
      AL121713, BX107174, D79986
      Consensus CDS
      CCDS5177.1
      UniProtKB/Swiss-Prot
      A2RU75, B7ZM58, E1P586, Q14673, Q86WU6, Q86WY0, Q9NYF8
      Related
      ENSP00000435210.1, ENST00000531224.6
      Conserved Domains (2) summary
      pfam15440
      Location:157 → 745
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:827 → 892
      Btz; CASC3/Barentsz eIF4AIII binding

    RNA

    1. NR_170164.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121713

    2. NR_170165.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121713

    3. NR_170166.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121713

    4. NR_170167.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121713

    5. NR_170168.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121713

    6. NR_170169.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121713
      Related
      ENST00000527613.5

    7. NR_170170.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121713

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      136256627..136289846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      137444735..137477958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYF8.2 GenPept UniProtKB/Swiss-Prot:Q9NYF8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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