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EGLN1  
    


    
      Official symbol:  EGLN1
      Full name:  egl-9 family hypoxia inducible factor 1
      Location:  1q42.2
      Also known as:  ZMYND6, SM-20, C1orf12, PHD2, HIFPH2
      Entrez ID:  54583
      Ensembl ID:  ENSG00000135766
      Summary:  The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.49  
Gscore (Del):  0.23  
 
Recurrently amplified in 3 cancer type(s)
Recurrently deleted in 1 cancer type(s)
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  2  
 
Fusions detected in 2 cancer type(s)
 
 

    
  Overall
    
  Tissue specific
    
   CRISPR: STRONGLY SELECTIVE 
   
   

    
      Functional class:  Not specified
      JensenLab PubMed score:  306.66  (Percentile rank: 86.47%)
      PubTator score:  210.66  (Percentile rank: 86.47%)
      Target development/druggability level:  TchemThese targets have activities in ChEMBL or DrugCentral that satisfy the activity thresholds detailed below.
      Tractability (small molecule):  Clinical PrecedenceTargets with drugs in phase II or above; Pre-clinical targets
      Tractability (antibody):  

    







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