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ACVR1  
    


    
      Official symbol:  ACVR1
      Full name:  activin A receptor type 1
      Location:  2q24.1
      Also known as:  ACVR1A, ACVRLK2, ALK2, SKR1
      Entrez ID:  90
      Ensembl ID:  ENSG00000115170
      Summary:  Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

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

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.18  (Driver)
 
Recurrently mutated in 1 cancer type(s)
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  3  
 
Fusions detected in 3 cancer type(s)
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Kinase (protein kinase)
      JensenLab PubMed score:  290.93  (Percentile rank: 85.90%)
      PubTator score:  178.93  (Percentile rank: 84.76%)
      Target development/druggability level:  TchemThese targets have activities in ChEMBL or DrugCentral that satisfy the activity thresholds detailed below.
      Tractability (small molecule):  Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
      Tractability (antibody):  Predicted Tractable - Medium to low confidenceTargets with GO cell component terms plasma membrane or secreted with low or unknown confidence; Targets with predicted signal peptide and transmembrane domains; GO cell component - medium confidence; Human Protein Atlas - high confidence

    







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