CSTB


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). 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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:601145
PHARMGKB IDPA26984
Map Location21q22.3

GO terms in CSTB


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IPI GO:0002020 protease binding
MF HDA GO:0003723 RNA binding
MF TAS GO:0004866 endopeptidase inhibitor activity
MF IBA GO:0004869 cysteine-type endopeptidase inhibitor activity
MF IDA GO:0004869 cysteine-type endopeptidase inhibitor activity
CC TAS GO:0005576 extracellular region
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Gene expression in normal tissue: CSTB

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CSTB


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Database
Pathway ID
Pathway Des.
netpath Pathway_EGFR1 EGFR1
reactome R-HSA-168249 Innate Immune System
reactome R-HSA-168256 Immune System
reactome R-HSA-6798695 Neutrophil degranulation
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD353 PD0325901 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CSTB

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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