Cystatin B

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Cystatin B, Human.
Protein CSTB PDB 1stf.png
Available structures
PDBOrtholog search: PDBe RCSB
AliasesCSTB, CST6, EPM1, EPM1A, PME, STFB, ULD, Cystatin B, CPI-B
External IDsOMIM: 601145 MGI: 109514 HomoloGene: 79 GeneCards: CSTB
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 21: 43.77 – 43.78 MbChr 10: 78.26 – 78.26 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Cystatin-B is a protein that in humans is encoded by the CSTB gene.[5][6]

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 cysteine 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).[6]


Cystatin B has been shown to interact with Cathepsin B.[7][8]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160213 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005054 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM (Apr 1996). "Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)". Science. 271 (5256): 1731–4. Bibcode:1996Sci...271.1731P. doi:10.1126/science.271.5256.1731. PMID 8596935. S2CID 84361089.
  6. ^ a b "Entrez Gene: CSTB cystatin B (stefin B)".
  7. ^ Pavlova, Alona; Björk Ingemar (Sep 2003). "Grafting of features of cystatins C or B into the N-terminal region or second binding loop of cystatin A (stefin A) substantially enhances inhibition of cysteine proteinases". Biochemistry. United States. 42 (38): 11326–33. doi:10.1021/bi030119v. ISSN 0006-2960. PMID 14503883.
  8. ^ Pol, E; Björk I (Sep 2001). "Role of the single cysteine residue, Cys 3, of human and bovine cystatin B (stefin B) in the inhibition of cysteine proteinases". Protein Sci. United States. 10 (9): 1729–38. doi:10.1110/ps.11901. ISSN 0961-8368. PMC 2253190. PMID 11514663.

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