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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| cystatin B | MIM:601145 | Ensembl:ENSG00000160213 | HGNC:HGNC:2482 | PA26984 | 21q22.3 |
GO terms in CSTB
| 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 |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005829 | cytosol |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0034774 | secretory granule lumen |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | TAS | GO:1904724 | tertiary granule lumen |
| CC | TAS | GO:1904813 | ficolin-1-rich granule lumen |
| BP | IEA | GO:0008344 | adult locomotory behavior |
| BP | IDA | GO:0010466 | negative regulation of peptidase activity |
| BP | IEA | GO:0010951 | negative regulation of endopeptidase activity |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IDA | GO:0045861 | negative regulation of proteolysis |
Gene expression in normal tissue: CSTB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CSTB
| 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 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CSTB
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