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

    Gene ID: 9774, updated on 19-Jun-2019

    Summary

    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
    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

    Genomic context

    See BCLAF1 in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (136256627..136289851, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (136578001..136611783, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 7B Neighboring gene uncharacterized LOC644135 Neighboring gene mitochondrial fission regulator 2 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 8 Neighboring gene phosphopantothenate--cysteine ligase pseudogene Neighboring gene microtubule associated protein 7

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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 BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA binding HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001077440.1NP_001070908.1  bcl-2-associated transcription factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001070908.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as btfS, lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AF249273, AL121713, BX107174, D79986
      Consensus CDS
      CCDS47486.1
      UniProtKB/Swiss-Prot
      Q9NYF8
      Related
      ENSP00000229446.5, ENST00000353331.8
      Conserved Domains (1) summary
      pfam15440
      Location:155743
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
    2. NM_001077441.2NP_001070909.1  bcl-2-associated transcription factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001070909.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      AL121713, BX107174, BX649160, D79986
      Consensus CDS
      CCDS47485.1
      UniProtKB/Swiss-Prot
      Q9NYF8
      Related
      ENSP00000436501.1, ENST00000530767.5
      Conserved Domains (2) summary
      pfam15440
      Location:157572
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:654719
      Btz; CASC3/Barentsz eIF4AIII binding
    3. NM_001301038.2NP_001287967.1  bcl-2-associated transcription factor 1 isoform 4

      See identical proteins and their annotated locations for NP_001287967.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter than isoform 1.
      Source sequence(s)
      AL121713, BC144281, BX107174, D79986
      Consensus CDS
      CCDS75525.1
      UniProtKB/Swiss-Prot
      Q9NYF8
      Related
      ENSP00000434826.1, ENST00000527759.5
      Conserved Domains (2) summary
      pfam15440
      Location:155743
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:825890
      Btz; CASC3/Barentsz eIF4AIII binding
    4. NM_001363659.2NP_001350588.1  bcl-2-associated transcription factor 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL121713
      Consensus CDS
      CCDS87444.1
      Conserved Domains (1) summary
      pfam15440
      Location:157746
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
    5. NM_014739.3NP_055554.1  bcl-2-associated transcription factor 1 isoform 1

      See identical proteins and their annotated locations for NP_055554.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as btfL, represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL121713, BX107174, D79986
      Consensus CDS
      CCDS5177.1
      UniProtKB/Swiss-Prot
      Q9NYF8
      Related
      ENSP00000435210.1, ENST00000531224.5
      Conserved Domains (2) summary
      pfam15440
      Location:157745
      THRAP3_BCLAF1; THRAP3/BCLAF1 family
      cl09653
      Location:827892
      Btz; CASC3/Barentsz eIF4AIII binding

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      136256627..136289851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011532.2XP_016867021.1  bcl-2-associated transcription factor 1 isoform X5

      Conserved Domains (1) summary
      cl09653
      Location:216281
      Btz; CASC3/Barentsz eIF4AIII binding
    2. XM_017011529.2XP_016867018.1  bcl-2-associated transcription factor 1 isoform X2

    3. XM_017011530.2XP_016867019.1  bcl-2-associated transcription factor 1 isoform X3

    4. XM_017011531.2XP_016867020.1  bcl-2-associated transcription factor 1 isoform X4

    RNA

    1. XR_001743770.2 RNA Sequence

    2. XR_002956319.1 RNA Sequence

    3. XR_001743768.2 RNA Sequence

    4. XR_001743771.1 RNA Sequence

    5. XR_245558.4 RNA Sequence

      Related
      ENST00000527613.5
    6. XR_001743764.2 RNA Sequence

    7. XR_001743766.2 RNA Sequence

    8. XR_001743769.2 RNA Sequence

    9. XR_245559.4 RNA Sequence

      Related
      ENST00000532384.5
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