Property Summary

NCBI Gene PubMed Count 80
PubMed Score 1740.46
PubTator Score 287.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Palmoplantar keratosis 36 0.0 4.0
Disease Target Count
Periodontititis, aggressive, 1 1

Expression

  Differential Expression (37)

Gene RIF (39)

PMID Text
27060303 Homozygous mutation 901G>A in exon 7 of CTSC gene is associated with Papillon-Lefevre syndrome.
26884336 Neutrophilic Cathepsin C Is Maturated by a Multistep Proteolytic Process and Secreted by Activated Cells during Inflammatory Lung Diseases.
26631737 CTSC was associated with albuminuria in type 2 diabetes patients.
25799584 Results identify a missense mutation in CTSC gene that segregate within a family with Papillon-Lefevre syndrome.
25395616 CatC has a role in the selective tuning of innate and adaptive immune responses, relevant to a chronic immune disease, such as atherosclerosis.
24949444 cathepsin C in GCF does not seem to have an effect on the pathogenesis of periodontal diseases.
24894642 Papillon-Lefevre syndrome cause by homozygous nonsense mutation of cathepsin C gene.
24667918 Microarray analysis indicates HIV-1 Tat-induced upregulation of cathepsin C (CTSC) in primary human brain microvascular endothelial cells
24374475 CTSC mutations in 5 Iranian families with Papillon-Lefevre syndrome (PLS)analyzed; modeled the protein for mutations found in 2 of them; presence of this mutation provides evidence for founder CTSC mutations in PLS; this P35delL mutation leads to loss of a leucine residue; results indicate the phenotypes in these 2 patients likely due to CTSC mutations
23556547 The present account of the 148.621 kb homozygous deletion on chromosome 11 is the first report of a mutational mechanism encompassing the whole CTSC gene.
23397598 Report novel deletion mutation in CTSC gene in Hungarian family with Papillon-Lefevre syndrome.
23311634 The novel loss-of function mutation of CTSC gene (c.203 T > G) found in Papillon-Lefevre Syndrome patients correlated with their diminished enzymatic activity.
23108224 Cathepsin C gene 5'-untranslated region mutation in papillon-lefevre syndrome in 4 unrelated families in Slovenia
22928782 present a catalytic model derived from the relative rates of the acylation vs deacylation half-reactions of cathepsin C.
22532132 The Cathepsin C releases the glycosidases from complexes formed with cathepsin A, and reinstates their activity.
22082156 Knockdown of cathepsin C (CTSC) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N
21742978 Processing of human protryptase in mast cells involves cathepsins L, B, and C.
21393975 Two Indian siblings present with Haim Munk syndrome (HMS) and its cardinal features including palmoplantar keratoderma, periodontitis. arachnodactyly, acroosteolysis, onychogryphosis, osteopenia as well as allelic mutation of cathepsin C exon 6 codon.
20797317 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20359428 This report described a novel mutation (c.267-268del)in a family with Brazilian Papillon-Lefevre syndrome and presented a review of all cathepsin C (65) mutations reported to date.
20236208 A novel mutation in the cathepsin C gene is reported in a Pakistani family with Papillon-Lefevre syndrome.
19816003 study identified an identical recurrent missense mutation, R272P, in 3 families with Papillon-Lefevre syndrome(PLS); presence of this mutation in families from 2 different geographical areas provides evidence for founder effect for CTSC mutations in PLS
18841559 Mutations of the cathepsin C gene are probably responsible for the phenotype of Papillon-Lefevre syndrome in this family.
18809751 gene variants contribute to increased susceptibility in generalized aggressive periodontitis
18809751 Observational study of gene-disease association. (HuGE Navigator)
18307834 Cathepsin C propeptide interacts with intestinal alkaline phosphatase (IAP) and heat shock cognate protein 70. The propeptide of cathepsin C may stimulate the sorting to the lysosome contributing to the degradation of IAP in Caco-2 cells.
18294227 study aimed to identify CTSC mutations in different Papillon-Lefevre phenotypes, including atypical forms and isolated pre-pubertal aggressive periodontitis
17943190 G386R missense mutation and an intragenic deletion spanning exons 3-7 and homozygous splice site mutation, p.A253SfsX30 found in papillon-Lefevre syndrome
17652201 Novel mutations in two Chinese patients with Papillon-Lefevre syndrome
17535802 inhibition of activation of multiple serine proteases with a cathepsin C inhibitor requires sustained exposure to prevent pro-enzyme processing
17020538 The structure of the inhibitor complex provides an explanation of the substrate specificity of hDPPI, and gives a background for the design of new inhibitors.
15985311 DPP-I may play a role in converting endogenous beta-melanocortin MSH(5-22) to more potent peptides that regulate energy homeostasis in the hypothalamus.
15585850 This report describes the apparent reason why the study of the natural history of human patients with Papillon-Lefevre syndrome has failed to detect a generalized T cell immunodeficiency phenotype.
15111626 homozygous deletion of 7 nucelotides in exon 4, creating a premature stop codon 11 amino acids downstream; 2 heterozygous missense mutations in exon 7: 1) substitution of leucine by arginine; 2)changing tryptophan to serine.
14974080 Three novel CTSC missense mutations found in 21 Papillon-Lefevre syndrome families, and a complete loss of CTSC function appears to be necessary for the manifestation of this phenotype.
12857359 All Papillon-Lefevre syndrome affected individuals from three Indian families showed three novel homozygous nonsense mutations in CTSC.
12083812 Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome.
12080079 Selective inhibition prevents the partial processing of procaspase-3 in CD3-activated human CD8(+) T lymphocytes
11914041 Sequencing of the mutant cathepsin C transcript revealed that it lacked exon 3, resulting in a frameshift and introduction of a premature termination codon in Papillon-Lefevre syndrome.

AA Sequence

MGAGPSLLLAALLLLLSGDGAVRCDTPANCTYLDLLGTWVFQVGSSGSQRDVNCSVMGPQEKKVVVYLQK      1 - 70
LDTAYDDLGNSGHFTIIYNQGFEIVLNDYKWFAFFKYKEEGSKVTTYCNETMTGWVHDVLGRNWACFTGK     71 - 140
KVGTASENVYVNIAHLKNSQEKYSNRLYKYDHNFVKAINAIQKSWTATTYMEYETLTLGDMIRRSGGHSR    141 - 210
KIPRPKPAPLTAEIQQKILHLPTSWDWRNVHGINFVSPVRNQASCGSCYSFASMGMLEARIRILTNNSQT    211 - 280
PILSPQEVVSCSQYAQGCEGGFPYLIAGKYAQDFGLVEEACFPYTGTDSPCKMKEDCFRYYSSEYHYVGG    281 - 350
FYGGCNEALMKLELVHHGPMAVAFEVYDDFLHYKKGIYHHTGLRDPFNPFELTNHAVLLVGYGTDSASGM    351 - 420
DYWIVKNSWGTGWGENGYFRIRRGTDECAIESIAVAATPIPKL                               421 - 463
//

Text Mined References (89)

PMID Year Title
27060303 2016 [Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome].
26884336 2016 Neutrophilic Cathepsin C Is Maturated by a Multistep Proteolytic Process and Secreted by Activated Cells during Inflammatory Lung Diseases.
26631737 2016 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25799584 2015 Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
25520721 2014 Cysteine cathepsins as regulators of the cytotoxicity of NK and T cells.
25395616 2015 Leukocyte cathepsin C deficiency attenuates atherosclerotic lesion progression by selective tuning of innate and adaptive immune responses.
24949444 2014 Are proteinase 3 and cathepsin C enzymes related to pathogenesis of periodontitis?
24894642 Papillon-Lefèvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis.
24374475 2014 Protein modeling of cathepsin C mutations found in Papillon-Lefèvre syndrome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23556547 2014 Complete homozygous deletion of CTSC in an Iranian family with Papillon-Lefèvre syndrome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23397598 2013 A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23311634 2013 Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients.
23108224 2012 Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.
22928782 2012 The amino-acid substituents of dipeptide substrates of cathepsin C can determine the rate-limiting steps of catalysis.
22532132 2012 Role of cathepsin A and cathepsin C in the regulation of glycosidase activity.
21742978 2011 Processing of human protryptase in mast cells involves cathepsins L, B, and C.
21393975 Haim Munk syndrome: report of two siblings of northern India treated with acitretin.
21269460 2011 Initial characterization of the human central proteome.
20797317 2010 Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT.
20359428 Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.
20236208 2010 A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome.
19946888 2010 Defining the membrane proteome of NK cells.
19816003 2009 Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19167329 2009 Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18841559 2008 [Mutational analysis of the cathepsin C gene in a family of Han nationality with Papillon-Lefevre syndrome].
18809751 2008 Cathepsin C gene variants in aggressive periodontitis.
18307834 2008 Cathepsin C propeptide interacts with intestinal alkaline phosphatase and heat shock cognate protein 70 in human Caco-2 cells.
18294227 2008 Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes.
18256700 2008 Cystatin F is a cathepsin C-directed protease inhibitor regulated by proteolysis.
17976006 2007 Cysteine proteases: destruction ability versus immunomodulation capacity in immune cells.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17943190 2008 Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.
17652201 2007 Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome.
17535802 2007 Inhibition of the activation of multiple serine proteases with a cathepsin C inhibitor requires sustained exposure to prevent pro-enzyme processing.
17020538 2007 The crystal structure of human dipeptidyl peptidase I (cathepsin C) in complex with the inhibitor Gly-Phe-CHN2.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16502470 2006 Human colostrum: identification of minor proteins in the aqueous phase by proteomics.
16381901 2006 The LIFEdb database in 2006.
15991336 2005 Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome.
15985311 2005 Potent peptide agonists for human melanocortin 3 and 4 receptors derived from enzymatic cleavages of human beta-MSH(5-22) by dipeptidyl peptidase I and dipeptidyl peptidase IV.
15585850 2004 Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15111626 2004 Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome.
15108292 2004 Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.
14974080 2004 The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12857359 2003 Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome.
12809647 2003 A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12358155 2002 Screening the proteins that interact with calpain in a human heart cDNA library using a yeast two-hybrid system.
12139965 2002 Dipeptidyl peptidase I: importance of progranzyme activation sequences, other dipeptide sequences, and the N-terminal amino group of synthetic substrates for enzyme activity.
12137938 2002 Identification of an alternative splicing variant of cathepsin C/dipeptidyl-peptidase I.
12112662 2002 Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.
12083812 2002 Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome.
12080079 2002 Selective inhibition of dipeptidyl peptidase I, not caspases, prevents the partial processing of procaspase-3 in CD3-activated human CD8(+) T lymphocytes.
11914041 2002 Demonstration of altered splicing with the IVS3-1G --> a mutation of cathepsin C.
11886537 2001 Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.
11726493 2001 Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases.
11327826 2001 Human recombinant pro-dipeptidyl peptidase I (cathepsin C) can be activated by cathepsins L and S but not by autocatalytic processing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11180601 2001 Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.
11180012 2001 Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.
11158173 2001 Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.
11106356 2000 Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.
11076863 2000 DNA cloning using in vitro site-specific recombination.
11015218 2000 The residual pro-part of cathepsin C fulfills the criteria required for an intramolecular chaperone in folding and stabilizing the human proenzyme.
10756096 2000 Statistical analysis of the 5' untranslated region of human mRNA using "Oligo-Capped" cDNA libraries.
10662808 2000 Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.
10662807 2000 Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.
10593994 1999 Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.
10581027 1999 Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
9507095 1998 Stoichiometry and heterogeneity of the pro-region chain in tetrameric human cathepsin C.
9272739 Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region.
9092576 1997 Human dipeptidyl-peptidase I. Gene characterization, localization, and expression.
8811434 1996 Simultaneous isolation of human kidney cathepsins B, H, L and C and their characterisation.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7665576 1995 Oligomeric structure and substrate induced inhibition of human cathepsin C.
7649281 1995 Molecular cloning and sequence analysis of human preprocathepsin C.
1586157 1992 Purification and characterization of dipeptidyl peptidase I from human spleen.