AKR1C1

(Aldo-keto reductase 1)

 

  • Alias                                 (According to NCBI)

 

 
  • RP11-69D4.1,
  • 2-ALPHA-HSD,
  • 20-ALPHA-HSD,
  • C9,
  • DD1,
  • DDH,
  • DDH1,
  • H-37,
  • HAKRC,
  • MBAB,
  • MGC8954
  • 20 alpha-hydroxysteroid dehydrogenase;
  • aldo-keto reductase C;
  • aldo-keto reductase family 1, member C1;
  • chlordecone reductase homolog;
  • dihydrodiol dehydrogenase 1;
  • dihydrodiol dehydrogenase isoform DD1;
  • hepatic dihydrodiol dehydrogenase;
  • trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;
  • type II 3-alpha-hydroxysteroid dehydrogenase

 

  • Converts progesterone to its inactive form, 20-alpha-dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine, may have a role in the transport of bile. May have a role in monitoring the intrahepatic bile acid concentration. Has a low bile-binding ability. May play a role in myelin formation.
  • Location: 10p15-p14
  • Size: 14705 bp
  • exons: 9
  • DNA sequence (Human): NC_000010.9

  • CGH (10p15):  Losses (%) -12.8   Gain (%)  2.8

  • Mutations and SNPs (According to HGMD and SNP)

 

 

  • m-RNA                       (According to NCBI and CGAP)

 

  • Size: 323 amino acids; 36788 Da
  • Catalytic activity: 17-alpha,20-alpha-dihydroxypregn-4-en-3-one + NAD(P)+ = 17-alpha-hydroxyprogesterone + NAD(P)H.

                                      Trans-1,2-dihydrobenzene-1,2-diol + NADP+ = catechol + NADPH.

  • Subcellular location: Cytoplasm.

  • Protein domains

     

  • Pathways and interactions (According to BioCarta, DIP)

 

                       

  • Protein interactions: AKR1C1

  • Clinical                            (According to OMIM, PubMed)