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 |
|---|---|---|---|---|---|
| cathepsin C | MIM:602365 | Ensembl:ENSG00000109861 | HGNC:HGNC:2528 | PA27028 | 11q14.2 |
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 |
| CC | ISS | GO:0005764 | lysosome |
| CC | TAS | GO:0005764 | lysosome |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| CC | IDA | GO:0005813 | centrosome |
| CC | HDA | GO:0016020 | membrane |
| CC | TAS | GO:0030134 | COPII-coated ER to Golgi transport vesicle |
| CC | TAS | GO:0033116 | endoplasmic reticulum-Golgi intermediate compartment membrane |
| CC | TAS | GO:0035578 | azurophil granule lumen |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | IEA | GO:0001913 | T cell mediated cytotoxicity |
| BP | IDA | GO:0006508 | proteolysis |
| BP | TAS | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | IEA | GO:0006915 | apoptotic process |
| BP | TAS | GO:0006955 | immune response |
| BP | IEA | GO:0007568 | aging |
| BP | IEA | GO:0010033 | response to organic substance |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | TAS | GO:0048208 | COPII vesicle coating |
| BP | IBA | GO:0051603 | proteolysis involved in cellular protein catabolic process |
| BP | ISS | GO:1903052 | positive regulation of proteolysis involved in cellular protein catabolic process |
| BP | IEA | GO:2001235 | positive regulation of apoptotic signaling pathway |
| MF | IBA | GO:0004197 | cysteine-type endopeptidase activity |
| MF | IEA | GO:0004252 | serine-type endopeptidase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008234 | cysteine-type peptidase activity |
| MF | IEA | GO:0016505 | peptidase activator activity involved in apoptotic process |
| MF | ISS | GO:0019902 | phosphatase binding |
| MF | IEA | GO:0031404 | chloride ion binding |
| MF | IEA | GO:0042802 | identical protein binding |
| MF | IEA | GO:0043621 | protein self-association |
| MF | ISS | GO:0051087 | chaperone binding |
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 |
| reactome | R-HSA-2132295 | MHC class II antigen presentation |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-5694530 | Cargo concentration in the ER |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-948021 | Transport to the Golgi and subsequent modification |
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2003 | miR-targeted genes in leukocytes - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CTSC
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