Search by GESP name  
   

 

MCOLN1  
    


    
      Official symbol:  MCOLN1
      Full name:  mucolipin 1
      Location:  19p13.2
      Also known as:  TRPML1, ML4, MSTP080, MST080, MLIV, TRPM-L1
      Entrez ID:  57192
      Ensembl ID:  ENSG00000090674
      Summary:  This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

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

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

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

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Ion channel
      JensenLab PubMed score:  272.22  (Percentile rank: 85.12%)
      PubTator score:  184.64  (Percentile rank: 85.07%)
      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):  Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted

    







Contact us | | Terms & Conditions.
Copyright © 2020 University of Pennsylvania. All Rights Reserved.