InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CTSC

Summary

InnateDB Protein

IDBP-67145.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CTSC

Protein Name

cathepsin C

Synonyms

CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD; PALS; PDON1; PLS;

Species

Homo sapiens

Ensembl Protein

ENSP00000227266

InnateDB Gene

IDBG-67143 (CTSC)

Protein Structure

UniProt Annotation

Function

Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII. {ECO:0000269PubMed:1586157}.

Subcellular Localization

Lysosome.

Disease Associations

Papillon-Lefevre syndrome (PLS) [MIM:245000]: An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. {ECO:0000269PubMed:10581027, ECO:0000269PubMed:10662808, ECO:0000269PubMed:11106356, ECO:0000269PubMed:11158173, ECO:0000269PubMed:11180012, ECO:0000269PubMed:11180601, ECO:0000269PubMed:11886537, ECO:0000269PubMed:12112662, ECO:0000269PubMed:12809647, ECO:0000269PubMed:14974080, ECO:0000269PubMed:15108292, ECO:0000269PubMed:15991336}. Note=The disease is caused by mutations affecting the gene represented in this entry.Haim-Munk syndrome (HMS) [MIM:245010]: An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis. {ECO:0000269PubMed:10662807}. Note=The disease is caused by mutations affecting the gene represented in this entry.Periodontititis, aggressive, 1 (AP1) [MIM:170650]: A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting. {ECO:0000269PubMed:10662808, ECO:0000269PubMed:14974080}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas. {ECO:0000269PubMed:9092576}.

Comments

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