Details for: CTSC

Gene ID: 1075

Symbol: CTSC

Ensembl ID: ENSG00000109861

Description: cathepsin C

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 299.2699
    Cell Significance Index: -46.5500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 142.7989
    Cell Significance Index: -36.2200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 125.7927
    Cell Significance Index: -51.8200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 119.9117
    Cell Significance Index: -48.7200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 106.5613
    Cell Significance Index: -50.3100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 100.6250
    Cell Significance Index: -51.7600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 75.5266
    Cell Significance Index: -50.6800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 51.6265
    Cell Significance Index: -49.2900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 38.5010
    Cell Significance Index: -47.4700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 14.6282
    Cell Significance Index: -44.9300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.0272
    Cell Significance Index: -47.4600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.3217
    Cell Significance Index: -22.5900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.6040
    Cell Significance Index: -20.3700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 5.9900
    Cell Significance Index: 175.9200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.5061
    Cell Significance Index: 46.3200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.3332
    Cell Significance Index: 29.8800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.3285
    Cell Significance Index: 230.3400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.7460
    Cell Significance Index: 953.5100
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 1.6129
    Cell Significance Index: 13.8600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.5819
    Cell Significance Index: 42.2400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.5331
    Cell Significance Index: 41.0100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.2794
    Cell Significance Index: 60.1300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.2617
    Cell Significance Index: 26.4100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2443
    Cell Significance Index: 246.9500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.2235
    Cell Significance Index: 13.9000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.0159
    Cell Significance Index: 23.4700
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 1.0153
    Cell Significance Index: 2.7200
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.9182
    Cell Significance Index: 16.2300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8431
    Cell Significance Index: 103.6700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.8028
    Cell Significance Index: 110.2400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7847
    Cell Significance Index: 141.4600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6333
    Cell Significance Index: 43.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5235
    Cell Significance Index: 85.1400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4943
    Cell Significance Index: 218.5200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2957
    Cell Significance Index: 7.7800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2809
    Cell Significance Index: 18.1300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1142
    Cell Significance Index: 3.2900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0920
    Cell Significance Index: 17.5000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0772
    Cell Significance Index: 13.1900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0730
    Cell Significance Index: 53.5600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0566
    Cell Significance Index: 7.2500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0526
    Cell Significance Index: 3.7200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0507
    Cell Significance Index: 38.3900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0403
    Cell Significance Index: 27.8900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0277
    Cell Significance Index: 1.4400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0242
    Cell Significance Index: 2.4700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0071
    Cell Significance Index: 2.5400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0024
    Cell Significance Index: 0.0400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0034
    Cell Significance Index: -0.1200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0207
    Cell Significance Index: -39.0000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0315
    Cell Significance Index: -58.0300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0338
    Cell Significance Index: -25.0700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0360
    Cell Significance Index: -55.4400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0428
    Cell Significance Index: -26.7500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0429
    Cell Significance Index: -58.3200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: -0.0468
    Cell Significance Index: -42.2700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0612
    Cell Significance Index: -0.3700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0711
    Cell Significance Index: -40.0900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0753
    Cell Significance Index: -47.8000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0895
    Cell Significance Index: -17.9500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1097
    Cell Significance Index: -14.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1126
    Cell Significance Index: -51.1300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1394
    Cell Significance Index: -40.1200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1429
    Cell Significance Index: -30.1000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1745
    Cell Significance Index: -20.5800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1832
    Cell Significance Index: -3.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2336
    Cell Significance Index: -27.2200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2478
    Cell Significance Index: -6.3300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2614
    Cell Significance Index: -29.9500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2823
    Cell Significance Index: -7.5700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2825
    Cell Significance Index: -41.0600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3124
    Cell Significance Index: -7.8100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3277
    Cell Significance Index: -15.2800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3630
    Cell Significance Index: -18.9100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3765
    Cell Significance Index: -42.9800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3926
    Cell Significance Index: -19.8400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4017
    Cell Significance Index: -5.4800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4504
    Cell Significance Index: -14.4300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4623
    Cell Significance Index: -48.1400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4762
    Cell Significance Index: -35.4900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5066
    Cell Significance Index: -10.7900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.5267
    Cell Significance Index: -14.7200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.5630
    Cell Significance Index: -43.2000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5765
    Cell Significance Index: -45.6600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.6387
    Cell Significance Index: -35.8400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.7093
    Cell Significance Index: -43.6000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.7117
    Cell Significance Index: -47.8600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.8348
    Cell Significance Index: -51.1800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.8745
    Cell Significance Index: -30.3900
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.8815
    Cell Significance Index: -4.0700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.9001
    Cell Significance Index: -7.3400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.9229
    Cell Significance Index: -58.1700
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.9481
    Cell Significance Index: -5.9400
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.9598
    Cell Significance Index: -14.8500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.9694
    Cell Significance Index: -43.9400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.9885
    Cell Significance Index: -43.7300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.9964
    Cell Significance Index: -40.8300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.0214
    Cell Significance Index: -53.6300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -1.0474
    Cell Significance Index: -9.6500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.0720
    Cell Significance Index: -30.7300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Cysteine-type endopeptidase**: CTSC is a member of the cysteine-type peptidase family, which is characterized by its ability to cleave peptide bonds using cysteine as a nucleophile. 2. **Dipeptidyl peptidase activity**: CTSC exhibits dipeptidyl peptidase activity, which involves the cleavage of dipeptides from the N-terminus of proteins. 3. **High expression in immune cells**: CTSC is highly expressed in various immune cells, including mature T cells, NKp46-positive innate lymphoid cells, and macrophages, highlighting its importance in immune regulation. 4. **Involvement in proteolysis and apoptosis**: CTSC's proteolytic activity is involved in the processing of proteins, including the activation of pro-apoptotic proteins, and its role in apoptosis is mediated through the cleavage of specific substrates. **Pathways and Functions:** 1. **Adaptive immune system**: CTSC is involved in the regulation of T cell-mediated cytotoxicity, antigen presentation, and the processing of antigens for presentation to T cells. 2. **Apoptotic process**: CTSC's proteolytic activity is involved in the activation of pro-apoptotic proteins, which regulate apoptosis in various cell types. 3. **Protein processing and modification**: CTSC is involved in the processing and modification of proteins, including the cleavage of dipeptides and the activation of specific substrates. 4. **Immune response**: CTSC plays a crucial role in the regulation of immune responses, including the activation of macrophages and the processing of antigens for presentation to T cells. 5. **Cellular homeostasis**: CTSC's involvement in proteolysis and apoptosis helps maintain cellular homeostasis by regulating the levels of specific proteins and promoting the removal of damaged or dysfunctional cells. **Clinical Significance:** 1. **Immunodeficiency disorders**: Mutations in the CTSC gene have been associated with immunodeficiency disorders, highlighting its importance in immune regulation. 2. **Cancer**: CTSC's involvement in proteolysis and apoptosis makes it a potential target for cancer therapy, particularly in the treatment of solid tumors. 3. **Autoimmune diseases**: CTSC's role in immune regulation and antigen presentation makes it a potential target for the treatment of autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis. 4. **Infectious diseases**: CTSC's involvement in the regulation of immune responses makes it a potential target for the treatment of infectious diseases, such as tuberculosis and HIV. In conclusion, cathepsin C is a complex gene that plays a multifaceted role in immune regulation, cellular homeostasis, and protein processing. Its involvement in proteolysis, apoptosis, and antigen presentation underscores its critical function in maintaining immune homeostasis and responding to pathogens. Further research is needed to fully elucidate the mechanisms by which CTSC regulates immune responses and to explore its potential as a therapeutic target in various diseases.

Genular Protein ID: 467141287

Symbol: CATC_HUMAN

Name: Dipeptidyl peptidase 1

UniProtKB Accession Codes:

P53634 A8K7V2 B5MDD5 Q2HIY8 Q53G93 Q71E75 Q71E76 Q7M4N9 Q7Z3G7 Q7Z5U7 Q8WY99 Q8WYA7 Q8WYA8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEBI 4 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 1 EMBL 22 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 30 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MEROPS 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 10 PDBsum 10 PIR 2 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 4 RefSeq 3 SABIO-RK 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7649281

Title: Molecular cloning and sequence analysis of human preprocathepsin C.

PubMed ID: 7649281

DOI: 10.1016/0014-5793(95)00777-7

PubMed ID: 9092576

Title: Human dipeptidyl-peptidase I. Gene characterization, localization, and expression.

PubMed ID: 9092576

DOI: 10.1074/jbc.272.15.10260

PubMed ID: 11180601

Title: Cathepsin C gene: first compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutation.

PubMed ID: 11180601

DOI: 10.1002/1098-1004(200102)17:2<152::aid-humu10>3.0.co;2-#

PubMed ID: 12809647

Title: A genetic study of cathepsin C gene in two families with Papillon-Lefevre syndrome.

PubMed ID: 12809647

DOI: 10.1016/s1096-7192(03)00070-2

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9507095

Title: Stoichiometry and heterogeneity of the pro-region chain in tetrameric human cathepsin C.

PubMed ID: 9507095

DOI: 10.1016/s0167-4838(97)00173-8

PubMed ID: 7665576

Title: Oligomeric structure and substrate induced inhibition of human cathepsin C.

PubMed ID: 7665576

DOI: 10.1074/jbc.270.37.21626

PubMed ID: 11015218

Title: The residual pro-part of cathepsin C fulfills the criteria required for an intramolecular chaperone in folding and stabilizing the human proenzyme.

PubMed ID: 11015218

DOI: 10.1021/bi0008837

PubMed ID: 1586157

Title: Purification and characterization of dipeptidyl peptidase I from human spleen.

PubMed ID: 1586157

DOI: 10.1016/0003-9861(92)90519-3

PubMed ID: 8428921

Title: Generation of active myeloid and lymphoid granule serine proteases requires processing by the granule thiol protease dipeptidyl peptidase I.

PubMed ID: 8428921

DOI: 10.1016/s0021-9258(18)53798-4

PubMed ID: 19167329

Title: Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.

PubMed ID: 19167329

DOI: 10.1016/j.cell.2008.11.047

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 11726493

Title: Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases.

PubMed ID: 11726493

DOI: 10.1093/emboj/20.23.6570

PubMed ID: 10581027

Title: Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

PubMed ID: 10581027

DOI: 10.1038/70525

PubMed ID: 10662807

Title: Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C.

PubMed ID: 10662807

DOI: 10.1136/jmg.37.2.88

PubMed ID: 10662808

Title: Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.

PubMed ID: 10662808

DOI: 10.1136/jmg.37.2.95

PubMed ID: 11106356

Title: Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients.

PubMed ID: 11106356

DOI: 10.1136/jmg.37.12.927

PubMed ID: 11180012

Title: Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene.

PubMed ID: 11180012

DOI: 10.1046/j.1523-1747.2001.01244.x

PubMed ID: 11886537

Title: Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome.

PubMed ID: 11886537

DOI: 10.1046/j.0022-202x.2001.01595.x

PubMed ID: 11158173

Title: Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients.

PubMed ID: 11158173

DOI: 10.1136/jmg.38.2.96

PubMed ID: 12112662

Title: Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefevre syndrome.

PubMed ID: 12112662

DOI: 10.1002/humu.9040

PubMed ID: 14974080

Title: The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis.

PubMed ID: 14974080

DOI: 10.1002/humu.10314

PubMed ID: 15108292

Title: Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs.

PubMed ID: 15108292

DOI: 10.1002/humu.9243

PubMed ID: 15991336

Title: Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome.

PubMed ID: 15991336

PubMed ID: 25799584

Title: Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.

PubMed ID: 25799584

DOI: 10.1371/journal.pone.0121351

Sequence Information:

  • Length: 463
  • Mass: 51854
  • Checksum: 4C9C7C24D900CEE6
  • Sequence:
    • MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTWV FQVGSSGSQR DVNCSVMGPQ 
EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK WFAFFKYKEE GSKVTTYCNE 
TMTGWVHDVL GRNWACFTGK KVGTASENVY VNIAHLKNSQ EKYSNRLYKY DHNFVKAINA 
IQKSWTATTY MEYETLTLGD MIRRSGGHSR KIPRPKPAPL TAEIQQKILH LPTSWDWRNV 
HGINFVSPVR NQASCGSCYS FASMGMLEAR IRILTNNSQT PILSPQEVVS CSQYAQGCEG 
GFPYLIAGKY AQDFGLVEEA CFPYTGTDSP CKMKEDCFRY YSSEYHYVGG FYGGCNEALM 
KLELVHHGPM AVAFEVYDDF LHYKKGIYHH TGLRDPFNPF ELTNHAVLLV GYGTDSASGM 
DYWIVKNSWG TGWGENGYFR IRRGTDECAI ESIAVAATPI PKL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.