Property Summary

NCBI Gene PubMed Count 80
Grant Count 728
R01 Count 160
Funding $616,997,481.87
PubMed Score 1740.46
PubTator Score 287.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (59)

Disease Z-score Confidence
Keratosis 34 6.147 3.1
Periodontal disease 37 5.298 2.6
Myopia 99 4.3 2.1
Plague 19 4.192 2.1
Pleural empyema 10 3.897 1.9
Astigmatism 27 3.75 1.9
Acrocallosal syndrome 12 3.736 1.9
Presbyopia 19 3.341 1.7
Cycloplegia 13 3.264 1.6
Paratyphoid fever 10 3.173 1.6
Antiphospholipid syndrome 18 3.074 1.5
Choledocholithiasis 13 3.036 1.5
Cancer 2,346 3.001 1.5
Atopic dermatitis 944
COPD 113
Dermatitis, Allergic Contact 66
Disease Progression 125
Duchenne muscular dystrophy 602
Endometriosis 535
HAIM-MUNK SYNDROME 1
Myocardial Ischemia 169
Palmoplantar keratosis 36 4.0
Papillon-Lefevre disease 4
Periodontal Diseases 1
Periodontitis, Juvenile 1
Stomach Neoplasms 282
Waldenstrons macroglobulinemia 765
aldosterone-producing adenoma 664
atypical teratoid/rhabdoid tumor 1,095
breast carcinoma 1,614
cutaneous lupus erythematosus 1,056
cystic fibrosis 1,665
dermatomyositis 933
diabetes mellitus 1,663
gastric carcinoma 832
glioblastoma 5,572
interstitial cystitis 2,299
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
lung adenocarcinoma 2,713
lung carcinoma 2,844
malignant mesothelioma 3,162
medulloblastoma, large-cell 6,234
nasopharyngeal carcinoma 1,056
non diabetic and post-ischemic heart fai... 200 
ovarian cancer 8,484
pancreatic cancer 2,300
pancreatic carcinoma 567
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
posterior fossa group A ependymoma 1,511
primary Sjogren syndrome 789
primary pancreatic ductal adenocarcinoma 1,271
psoriasis 6,685
sonic hedgehog group medulloblastoma 1,482
subependymal giant cell astrocytoma 2,287
type II diabetes mellitus and post-ische... 89 
ulcerative colitis 2,087

Expression

Synonym

Accession P53634 A8K7V2 B5MDD5 Q2HIY8 Q53G93 Q71E75 Q71E76 Q7M4N9 Q7Z3G7 Q7Z5U7 Q8WY99 Q8WYA7 Q8WYA8
Symbols JP
HMS
JPD
PLS
CPPI
DPP1
DPPI
PALS
DPP-I
PDON1

Gene

PANTHER Protein Class (3)

PDB

1K3B   2DJF   2DJG   3PDF   4CDC   4CDD   4CDE   4CDF   4OEL   4OEM  

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.
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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.
More...