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

Gene ID: 9774, updated on 3-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
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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 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)

Genotypes

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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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

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Chemical Information
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