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FLASH GENE
Symbol TAF1A contributors: mct - updated : 17-06-2020
HGNC name TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa
HGNC id 11532
Corresponding disease
CMDTAF1AD cardiomyopathy, dilated with TAF1A defieciency
Location 1q41      Physical location : 222.731.665 - 222.763.255
Synonym name
  • Selectivity Factor 1
  • RNA polymerase I-specific TBP-associated factor 48 kDa
  • TBP-associated factor 1A
  • transcription factor SL1
  • transcription initiation factor SL1/TIF-IB subunit A
  • Synonym symbol(s) TAFI48, SL1, TAF(I)48, MGC:17061, RAFI48, SL1
    DNA
    TYPE functioning gene
    STRUCTURE 32.19 kb     10 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 1910 - 450 - 2001 11250901
    11 splicing 1796 - 336 - 2001 11250901
    12 - 1966 - 450 - 2001 11250901
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
     stomach    
    Lymphoid/Immunelymph node    
    Nervousbrain    
    Reproductivefemale systemuteruscervix  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text fetal tissues
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Taf1a
    Homologene
    FAMILY
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in the initiation of transcription by RNA polymerase 2
  • initiation of transcription for ribosomal RNA (rRNA) by RNA polymerase I requires TBP and TBP-associated factors (TAF1A, TAF1B and TAF1C)
  • TAF1A functions in recruitment of RNA polymerase I to ribosomal DNA promoters, the essential first step in ribosome biogenesis
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of SL1 (complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I), general transcription factor associated with POLR1, synthesis of 45S RNA precursors
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with helix 2 of TBP
  • TBP loading by AFF1 through TAF1A, TAF1B, TAF1C is the major rate-limiting step in MLL fusion-dependent transcription
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMDTAF1AD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS