Cathepsin C (CTSC)

CTS-C; DPPI; CPPI; DPP1; DPP-I; HMS; JP; JPD; PALS; PLS; Dipeptidyl Peptidase I; Dipeptidyl transferase; Cathepsin J

SPN	T847
HGNC	2528
MGI	109553
PubMed	14974080
RGD	2445
UniProt	P53634
Wiki	Cathepsin_C

Cathepsin C (dipeptidyl peptidase I) is a lysosomal exo-cysteine protease belonging to the peptidase C1 family. Cathepsin C appears to be a central coordinator for activation of many serine proteases in immune/inflammatory cells.Cathepsin C catalyses excision of dipeptides from the N-terminus of protein and peptide substrates, except if (i) the amino group of the N-terminus is blocked, (ii) the site of cleavage is on either side of a proline residue, (iii) the N-terminal residue is lysine or arginine, or (iv) the structure of the peptide or protein prevents further digestion from the N-terminus.Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre disease, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis.

Reference

"Molecular cloning and sequence analysis of human preprocathepsin C."
FEBS Lett. 369:326-330(1995) [PubMed] [Europe PMC] [Abstract]

"Human dipeptidyl-peptidase I. Gene characterization, localization, and expression."
J. Biol. Chem. 272:10260-10265(1997) [PubMed] [Europe PMC] [Abstract]

"Cathepsin C gene: first compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutation."
Hum. Mutat. 17:152-153(2001) [PubMed] [Europe PMC] [Abstract]

"A genetic study of cathepsin C gene in two families with Papillon-Lefevre syndrome."
Mol. Genet. Metab. 79:146-148(2003) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The full-ORF clone resource of the German cDNA consortium."
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Stoichiometry and heterogeneity of the pro-region chain in tetrameric human cathepsin C."
Biochim. Biophys. Acta 1382:143-150(1998) [PubMed] [Europe PMC] [Abstract]

"Oligomeric structure and substrate induced inhibition of human cathepsin C."
J. Biol. Chem. 270:21626-21631(1995) [PubMed] [Europe PMC] [Abstract]

"The residual pro-part of cathepsin C fulfills the criteria required for an intramolecular chaperone in folding and stabilizing the human proenzyme."
Biochemistry 39:12382-12390(2000) [PubMed] [Europe PMC] [Abstract]

"Purification and characterization of dipeptidyl peptidase I from human spleen."
Arch. Biochem. Biophys. 295:280-288(1992) [PubMed] [Europe PMC] [Abstract]

"Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms."
Cell 136:272-283(2009) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases."
EMBO J. 20:6570-6582(2001) [PubMed] [Europe PMC] [Abstract]

"Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis."
Nat. Genet. 23:421-424(1999) [PubMed] [Europe PMC] [Abstract]

"Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C."
J. Med. Genet. 37:88-94(2000) [PubMed] [Europe PMC] [Abstract]

"Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation."
J. Med. Genet. 37:95-101(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients."
J. Med. Genet. 37:927-932(2000) [PubMed] [Europe PMC] [Abstract]

"Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene."
J. Invest. Dermatol. 116:339-343(2001) [PubMed] [Europe PMC] [Abstract]

"Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome."
J. Invest. Dermatol. 117:1657-1661(2001) [PubMed] [Europe PMC] [Abstract]

"Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients."
J. Med. Genet. 38:96-101(2001) [PubMed] [Europe PMC] [Abstract]

"Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefevre syndrome."
Hum. Mutat. 20:75-75(2002) [PubMed] [Europe PMC] [Abstract]

"The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis."
Hum. Mutat. 23:222-228(2004) [PubMed] [Europe PMC] [Abstract]

"Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs."
Hum. Mutat. 23:524-524(2004) [PubMed] [Europe PMC] [Abstract]

"Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome."
Hum. Genet. 116:545-545(2005) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Genet. 118:533-533(2005)