Tbio CSTB Cystatin-B

Protein Summary

Description

This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and 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). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]

Uniprot Accession IDs

• P04080

Gene Name

• CSTB

Ensembl ID

• ENST00000291568
• ENSP00000291568
• ENSG00000160213

Symbol

• CST6
• STFB
• PME
• ULD
• CST6
• EPM1
• STFB
• CPI-B
• EPM1A

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	1
kinase perturbation	0.99
virus perturbation	0.97
transcription factor perturbation	0.96
interacting protein	0.87

Protein Classes

PANTHER Classes

Protein / Enzyme Modulator / Protease Inhibitor / Cysteine Protease Inhibitor / Cystatin-b

DTO Classes

Protein / Enzyme Modulator / Protease Inhibitor / Cysteine Protease Inhibitor / Cystatin-b

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 410.51   (req: < 5)

Gene RIFs: 59   (req: <= 3)

Antibodies: 713   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 410.51   (req: >= 5)

Gene RIFs: 59   (req: > 3)

Antibodies: 713   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0