Homo sapiens Gene: CTSC
Summary
InnateDB Gene IDBG-67143.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CTSC
Gene Name cathepsin C
Synonyms CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD; PALS; PDON1; PLS;
Species Homo sapiens
Ensembl Gene ENSG00000109861
Encoded Proteins
cathepsin C
cathepsin C
cathepsin C
cathepsin C
cathepsin C
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor, and a residual 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:88293592-88337787
Strand Reverse strand
Band q14.2
Transcripts
ENST00000227266 ENSP00000227266
ENST00000393301
ENST00000533897
ENST00000527018 ENSP00000432556
ENST00000533865
ENST00000524463 ENSP00000432541
ENST00000528020 ENSP00000433229
ENST00000529974 ENSP00000433539
ENST00000534131
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 14 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0008234 cysteine-type peptidase activity
GO:0016505 peptidase activator activity involved in apoptotic process
GO:0019902 phosphatase binding
GO:0031404 chloride ion binding
GO:0042802 identical protein binding
GO:0043621 protein self-association
GO:0051087 chaperone binding
Biological Process
GO:0001913 T cell mediated cytotoxicity
GO:0006508 proteolysis
GO:0006915 apoptotic process
GO:0006955 immune response
GO:0007568 aging
GO:0010033 response to organic substance
GO:1903052 positive regulation of proteolysis involved in cellular protein catabolic process
GO:2001235 positive regulation of apoptotic signaling pathway
Cellular Component
GO:0005615 extracellular space
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
MHC class II antigen presentation pathway
Adaptive Immune System pathway
Immune System pathway
KEGG
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P53634
TrEMBL I3V9T0
UniProt Splice Variant
Entrez Gene 1075
UniGene Hs.128065 Hs.597318
RefSeq NM_001114173 NM_001814 NM_148170
HUGO HGNC:2528
OMIM 602365
CCDS CCDS44693 CCDS31654 CCDS8282
HPRD 03841
IMGT
EMBL AC011088 AF234263 AF234264 AF254757 AF525032 AF525033 AK223038 AK292117 AK311923 BC054028 BC100891 BC100892 BC100893 BC100894 BC109386 BC110071 BC113850 BC113897 BX537913 CH471185 JQ763335 JQ763337 JQ763338 JQ763339 JQ763341 U79415 X87212
GenPept AAC51341 AAH54028 AAI00892 AAI00893 AAI00894 AAI00895 AAI09387 AAI10072 AAI13851 AAI13898 AAL48191 AAL48192 AAL48195 AAQ08887 AAQ08888 AFK75987 AFK75989 AFK75990 AFK75991 AFK75993 BAD96758 BAF84806 BAG34864 CAA60671 CAD97897 EAW59364
RNA Seq Atlas 1075