InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-67145

cathepsin C

IDBP-600619

cathepsin C

IDBP-597745

cathepsin C

IDBP-592853

cathepsin C

IDBP-593751

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

ENSMUSG00000030560

View Gene Order

ENSBTAG00000011100

Not yet available

Pathways

NETPATH

REACTOME

REACT_121399

MHC class II antigen presentation pathway

REACT_75774

Adaptive Immune System pathway

REACT_6900

Immune System pathway

KEGG

hsa04142

Lysosome pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.128065 Hs.597318

RefSeq

NM_001114173 NM_001814 NM_148170

HUGO

OMIM

CCDS

CCDS31654 CCDS44693 CCDS8282

HPRD

03841

IMGT

EMBL

GenPept

RNA Seq Atlas