CSTB

Cystatin B (stefin B)

 

  • Alias                                 (According to NCBI)

 
  • CPI-B
  • CST6
  • EPM1
  • PME
  • STFB
  • cystatin B
  • cystatin B (liver thiol proteinase inhibitor)
  • cystatin B (stefin B) 
  • epilepsy, progressive myoclonic 1 (Unverricht-Lundborg type)
  • Cystatin B (Liver thiol proteinase inhibitor) (CPI-B) (Stefin B).

  • The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1).
  • Location: 21q22.3
  • Orientation: minus strand
  • Size: 2428 bp
  • 3  exons
  • DNA sequence (Human): NC_000021


  • CGH (21q22.3):  Losses (%)  -11.2 Gain (%)  2.8 

  • Mutations and SNPs (According to HGMD and SNP)
  • m-RNA                       (According to NCBI and CGAP)

 

  • mRNA sequence (Human): NM_000100

  • Size: 674 bp

  • cDNA libraries: CSTB
  • Size: 98 amino acids; 11140 Da
  • Catalytic activity: ?

  • Subcellular location: Cytoplasmic and nuclear.

  • Protein domains

 

 
  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions:

  • Clinical                            (According to OMIM, PubMed)