Property Summary

NCBI Gene PubMed Count 80
PubMed Score 1740.46
PubTator Score 287.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
lung carcinoma 2844 5.75205907304445E-33
pilocytic astrocytoma 3086 1.08291880557083E-9
malignant mesothelioma 3163 1.522610039784E-9
ulcerative colitis 2087 1.76036706495157E-7
lung adenocarcinoma 2714 2.58637155352995E-7
Duchenne muscular dystrophy 602 3.26873359620583E-7
psoriasis 6685 4.01986541861291E-6
cystic fibrosis 1670 4.37347345043475E-6
pediatric high grade glioma 2712 7.5381218042996E-6
juvenile dermatomyositis 1189 1.81208873367191E-5
glioblastoma 5572 5.19581643620282E-5
posterior fossa group A ependymoma 1511 2.07707467413071E-4
primary pancreatic ductal adenocarcinoma 1271 2.2503197420687E-4
pancreatic carcinoma 567 2.67466500964435E-4
interstitial cystitis 2299 2.92830447843789E-4
Atopic dermatitis 944 3.41520552520168E-4
sonic hedgehog group medulloblastoma 1482 3.45781269163398E-4
ovarian cancer 8492 4.01203995354726E-4
invasive ductal carcinoma 2950 5.69345794458607E-4
nasopharyngeal carcinoma 1056 0.0011509848751793
subependymal giant cell astrocytoma 2287 0.00120402403272957
diabetes mellitus 1663 0.00139373707069883
cutaneous lupus erythematosus 1056 0.00141342306435031
pancreatic cancer 2300 0.00149836129461694
Waldenstrons macroglobulinemia 765 0.00292498088539827
non diabetic and post-ischemic heart failure 200 0.00468806133271907
COPD 116 0.00544544444878501
dermatomyositis 967 0.00592066919903377
atypical teratoid/rhabdoid tumor 1095 0.00799282706874568
medulloblastoma, large-cell 6234 0.00949967445329067
gastric carcinoma 832 0.0170850988753658
breast carcinoma 1614 0.0239897662367255
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0277876772112906
aldosterone-producing adenoma 664 0.0318744138008446
type II diabetes mellitus and post-ischemic heart failure 89 0.0334679221010571
primary Sjogren syndrome 789 0.040160993507966
Endometriosis 535 0.048282821347594
Disease Target Count Z-score Confidence
Palmoplantar keratosis 36 0.0 4.0
Disease Target Count
Periodontititis, aggressive, 1 1

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  

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

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...