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FLASH GENE
Symbol BCLAF1 contributors: mct - updated : 11-01-2021
HGNC name BCL2-associated transcription factor 1
HGNC id 16863
Location 6q23.3      Physical location : 136.578.000 - 136.610.989
Synonym name
  • Bcl-2-associated transcription factor
  • DNA binding protein 5
  • death promoting transcriptional repressor interacting with Bcl2-related protein (see TSG6F)
    • Synonym symbol(s) KIAA0164, BTF, DPTR, bK211L9.1
    DNA
    TYPE functioning gene
    STRUCTURE 32.99 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 7277 105.9 920 - 1999 10330179
    also called BTFL variant 1
    12 - 7124 100.1 869 - 1999 10330179
  • also called BTFS variant 2
  • lacking an alternate in-frame exon
    • 13 - 6758 85.8 747 - 1999 10330179
    using an alternate in-frame splice site in the 5' coding region
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • homology to the basic leucine zipper (bzip) and MYB DNA binding domains
    • HOMOLOGY
    interspecies homolog to murine Bclaf1 (96.4pc)
    homolog to rattus Bclaf1 (96.1pc)
    intraspecies homolog to BCL2(see TSG6F)
    Homologene
    FAMILY
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • death promoting transcriptional repressor
  • is required for proper spatial and temporal organization of smooth muscle lineage during the saccular stage of lung development
  • is essential for peripheral T-cell homeostasis
  • inducing apoptosis upon overexpression
  • BCLAF1 has functions distinct from THRAP3 in regulating the subcellular distribution of mRNAs in human cells
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to emerin by two regions of emerin flanking its lamin-binding domain
  • interacting with BCL2
  • interacting with antiapoptotic members of Bcl2 protein family, thus preventing its nuclear localization
  • both THRAP3 and BCLAF1 are associated with the spliceosome, indicating their potential role in pre-mRNA splicing
  • CCDC80 overexpression resulted in BCLAF1 upregulation
  • 10 FXR1-interacting proteins including Bcl-2-associated transcription factor 1 (BCLAF1)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast lesion patients as compared with normal controls
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS