APOL1

(Apolipoprotein L, 1)

 

  • Alias                                 (According to NCBI)

 
  • APO-L 
  • APOL 
  • APOL-I
  • apolipoprotein L, 1 
  • apolipoprotein L-I 
  • apolipoprotein L1 
  • Apolipoprotein L1 precursor (Apolipoprotein L-I) (Apolipoprotein L) (ApoL-I) (Apo-L) (ApoL).
  • Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. The protein encoded by this gene is a secreted high density lipoprotein which binds to apolipoprotein A-I. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. At least three transcript variants encoding two different isoforms exist for this gene.
  • Location:22q13.1
  • Orientation: plus strand
  • Size: 14454 bp
  • 7 exons
  • DNA sequence (Human): NC_000022. 

 

  • CGH (22q13.1):  Losses (%) -1.1   Gain (%)  15.1
  • Mutations and SNPs (According to HGMD and SNP)

 
  • HGMD (Human Gene Mutation Database):
  • SNPs: APOL1
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size: 398 amino acids; 44026 Da
  • Catalytic activity:

  • Subcellular location: Secreted.

  • Protein domains

 

                                
  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions:
  • Clinical                            (According to OMIM, PubMed)