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TAF1  
    


    
      Official symbol:  TAF1
      Full name:  TATA-box binding protein associated factor 1
      Location:  Xq13.1
      Also known as:  TAFII250, BA2R, KAT4, NSCL2, DYT3/TAF1, TAF2A, CCG1, CCGS, DYT3
      Entrez ID:  6872
      Ensembl ID:  ENSG00000147133
      Summary:  Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.00  
Gscore (Del):  0.00  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.44  (Driver)
 
Recurrently mutated in 2 cancer type(s)
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  1  
 
Fusions detected in 1 cancer type(s)
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Epigenetic
      JensenLab PubMed score:  426.14  (Percentile rank: 89.64%)
      PubTator score:  194.56  (Percentile rank: 85.65%)
      Target development/druggability level:  TbioThese targets do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy one or more of the following criteria: 1) target is above the cutoff criteria for Tdark; 2) target is annotated with a Gene Ontology Molecular Function or Biological Process leaf term(s) with an Experimental Evidence code.
      Tractability (small molecule):  Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
      Tractability (antibody):  

    







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