CTSC
Summary: This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namecathepsin C OMIM IDMIM:602365 Ensembl IDEnsembl:ENSG00000109861 HGNC IDHGNC:HGNC:2528 PHARMGKB IDPA27028 Map Location11q14.2 | |||||
GO terms in CTSC
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | TAS | GO:0005576 | extracellular region |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IBA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005764 | lysosome |
Gene expression in normal tissue: CTSC
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CTSC
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-199977 | ER to Golgi Anterograde Transport |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-204005 | COPII-mediated vesicle transport |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CTSC
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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