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Description for Protein CSTB

cystatin B (stefin B)
6 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 1)
Summary:
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). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K13907
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Liver thiol proteinase inhibitor; CPI-B; STEFIN B; STFB; Thiol protease inhibitor; Stefin B
Approved Symbol:
CSTB
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 5
Human (de-) phosphorylation sites: 5; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Myclonic epilepsy of Unverricht and Lundborg(Pd);
  • Myoclonic epilepsy of Unverricht and Lundborg(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03091 Entrez Gene ID: 1476 OMIM ID: 601145 Swissprot Accession: P04080; Q76LA1;