Cystatin B

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CSTB redirects here. It can also refer to the Trade Union Confederation of Bolivian Workers.
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 MGI: 109514 HomoloGene: 79 GeneCards: CSTB
RNA expression pattern
PBB GE CSTB 201201 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000100

NM_007793

RefSeq (protein)

NP_000091

NP_031819.1
NP_031819

Location (UCSC) Chr 21: 43.77 – 43.78 Mb Chr 10: 78.43 – 78.43 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Cystatin-B is a protein that in humans is encoded by the CSTB gene.[3][4]

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).[4]

Interactions[edit]

Cystatin B has been shown to interact with Cathepsin B.[5][6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. doi:10.1126/science.271.5256.1731. PMID 8596935. 
  4. ^ a b "Entrez Gene: CSTB cystatin B (stefin B)". 
  5. ^ 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. 
  6. ^ 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 2253190Freely accessible. PMID 11514663. 

Further reading[edit]

External links[edit]