Cystatin B

Last updated

Cystatin B, Human. 1stf.jpg
Cystatin B, Human.
CSTB
Protein CSTB PDB 1stf.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CSTB , CST6, EPM1, EPM1A, PME, STFB, ULD, Cystatin B, CPI-B
External IDs OMIM: 601145; MGI: 109514; HomoloGene: 79; GeneCards: CSTB; OMA:CSTB - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000100

NM_007793

RefSeq (protein)

NP_000091

NP_031819

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

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

Contents

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 Unverricht–Lundborg disease, a form of progressive myoclonic epilepsy (EPM1). [6]

Interactions

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000160213 Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: CSTB cystatin B (stefin B)".
  7. Pavlova A, 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. 42 (38). United States: 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. 10 (9). United States: 1729–38. doi:10.1110/ps.11901. ISSN   0961-8368. PMC   2253190 . PMID   11514663.

Further reading