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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
cathepsin CMIM:602365Ensembl:ENSG00000109861HGNC:HGNC:2528PA2702811q14.2

Gene Categories:

PROTEASEDRUGGABLE GENOME

GO terms in CTSC


Term TypeEvidence TypeGO Term IDGO Des.
CCIEAGO:0000139Golgi membrane
CCTASGO:0005576extracellular region
CCHDAGO:0005615extracellular space
CCIBAGO:0005615extracellular space
CCIDAGO:0005654nucleoplasm
CCIBAGO:0005764lysosome
CCISSGO:0005764lysosome
CCTASGO:0005764lysosome
CCTASGO:0005788endoplasmic reticulum lumen
CCIDAGO:0005813centrosome
CCHDAGO:0016020membrane
CCTASGO:0030134COPII-coated ER to Golgi transport vesicle
CCTASGO:0033116endoplasmic reticulum-Golgi intermediate compartment membrane
CCTASGO:0035578azurophil granule lumen
CCIDAGO:0043231intracellular membrane-bounded organelle
CCHDAGO:0070062extracellular exosome
BPIEAGO:0001913T cell mediated cytotoxicity
BPIDAGO:0006508proteolysis
BPTASGO:0006888ER to Golgi vesicle-mediated transport
BPIEAGO:0006915apoptotic process
BPTASGO:0006955immune response
BPIEAGO:0007568aging
BPIEAGO:0010033response to organic substance
BPTASGO:0043312neutrophil degranulation
BPTASGO:0048208COPII vesicle coating
BPIBAGO:0051603proteolysis involved in cellular protein catabolic process
BPISSGO:1903052positive regulation of proteolysis involved in cellular protein catabolic process
BPIEAGO:2001235positive regulation of apoptotic signaling pathway
MFIBAGO:0004197cysteine-type endopeptidase activity
MFIEAGO:0004252serine-type endopeptidase activity
MFIPIGO:0005515protein binding
MFIDAGO:0008234cysteine-type peptidase activity
MFIEAGO:0016505peptidase activator activity involved in apoptotic process
MFISSGO:0019902phosphatase binding
MFIEAGO:0031404chloride ion binding
MFIEAGO:0042802identical protein binding
MFIEAGO:0043621protein self-association
MFISSGO:0051087chaperone binding

Gene expression in normal tissue: CTSC

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CTSC


DatabasePathway IDPathway Des.
reactomeR-HSA-1280218Adaptive Immune System
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-199977ER to Golgi Anterograde Transport
reactomeR-HSA-199991Membrane Trafficking
reactomeR-HSA-204005COPII-mediated vesicle transport
reactomeR-HSA-2132295MHC class II antigen presentation
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-446203Asparagine N-linked glycosylation
reactomeR-HSA-5653656Vesicle-mediated transport
reactomeR-HSA-5694530Cargo concentration in the ER
reactomeR-HSA-597592Post-translational protein modification
reactomeR-HSA-6798695Neutrophil degranulation
reactomeR-HSA-948021Transport to the Golgi and subsequent modification
wikipathwaysWP2002miR-targeted genes in epithelium - TarBase
wikipathwaysWP2003miR-targeted genes in leukocytes - TarBase
wikipathwaysWP2004miR-targeted genes in lymphocytes - TarBase
wikipathwaysWP2005miR-targeted genes in muscle cell - TarBase
kegghsa04142Lysosome - Homo sapiens (human)
kegghsa04210Apoptosis - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259012

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CTSC

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