Details for: CTSC

Gene ID: 1075

Symbol: CTSC

Ensembl ID: ENSG00000109861

Description: cathepsin C

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 5
    Marker Score: 2181.5
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 3.42
    Marker Score: 3911
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 3.27
    Marker Score: 32367
  • Cell Name: tracheobronchial goblet cell (CL0019003)
    Fold Change: 2.95
    Marker Score: 809
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 2.94
    Marker Score: 8577
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.88
    Marker Score: 73730
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 2.88
    Marker Score: 9081
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 2.87
    Marker Score: 5234
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 2.68
    Marker Score: 7399.5
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 2.67
    Marker Score: 2349
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.67
    Marker Score: 2671
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.64
    Marker Score: 16887.5
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.63
    Marker Score: 3170
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 2.52
    Marker Score: 6090
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.51
    Marker Score: 10811
  • Cell Name: club cell (CL0000158)
    Fold Change: 2.49
    Marker Score: 2902
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 2.47
    Marker Score: 4811
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.37
    Marker Score: 6348
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.35
    Marker Score: 8343.5
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 2.33
    Marker Score: 14178
  • Cell Name: blood cell (CL0000081)
    Fold Change: 2.33
    Marker Score: 27067
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 2.32
    Marker Score: 3578
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 2.32
    Marker Score: 2239
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.29
    Marker Score: 17015
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 2.26
    Marker Score: 1246
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 2.23
    Marker Score: 2474
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.23
    Marker Score: 8747.5
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 2.2
    Marker Score: 919
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 2.2
    Marker Score: 3237
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 2.19
    Marker Score: 5449
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 2.18
    Marker Score: 628
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 2.17
    Marker Score: 6099
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 2.17
    Marker Score: 5617
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.14
    Marker Score: 119577
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 2.13
    Marker Score: 1051
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 2.06
    Marker Score: 841
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.04
    Marker Score: 13243.5
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 2
    Marker Score: 1684
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.98
    Marker Score: 856
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.98
    Marker Score: 68723
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.96
    Marker Score: 22130
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 1.95
    Marker Score: 1735
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.95
    Marker Score: 1978
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 1.95
    Marker Score: 1120
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 1.94
    Marker Score: 1649
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.94
    Marker Score: 733
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.93
    Marker Score: 1407
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.89
    Marker Score: 2042
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.85
    Marker Score: 4667
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 1.83
    Marker Score: 1253
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 1.81
    Marker Score: 1486
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.8
    Marker Score: 2470
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.75
    Marker Score: 23086.5
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 1.74
    Marker Score: 878
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 1.73
    Marker Score: 2393
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.73
    Marker Score: 859
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.73
    Marker Score: 4519
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.73
    Marker Score: 7062
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.71
    Marker Score: 3346.5
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.69
    Marker Score: 826
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.69
    Marker Score: 429
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.68
    Marker Score: 838
  • Cell Name: macrophage (CL0000235)
    Fold Change: 1.68
    Marker Score: 1868
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.67
    Marker Score: 1771
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.67
    Marker Score: 6932
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.65
    Marker Score: 1101
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.64
    Marker Score: 2995.5
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 1.63
    Marker Score: 2119
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.62
    Marker Score: 1635
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 1.62
    Marker Score: 1091
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.61
    Marker Score: 8469
  • Cell Name: ILC1, human (CL0001077)
    Fold Change: 1.61
    Marker Score: 408.5
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.6
    Marker Score: 3187
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.59
    Marker Score: 3742
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.57
    Marker Score: 354
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.57
    Marker Score: 15798
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 1.57
    Marker Score: 380
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.57
    Marker Score: 774.5
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.56
    Marker Score: 2506
  • Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
    Fold Change: 1.55
    Marker Score: 503
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: 1.54
    Marker Score: 1702
  • Cell Name: CD4-positive, CD25-positive, alpha-beta regulatory T cell (CL0000792)
    Fold Change: 1.54
    Marker Score: 408
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.53
    Marker Score: 1563
  • Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
    Fold Change: 1.53
    Marker Score: 504
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 1.53
    Marker Score: 897
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.51
    Marker Score: 429
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.51
    Marker Score: 953
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.51
    Marker Score: 545
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.5
    Marker Score: 1583.5
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.49
    Marker Score: 2106
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 1.49
    Marker Score: 820
  • Cell Name: activated CD8-positive, alpha-beta T cell, human (CL0001049)
    Fold Change: 1.48
    Marker Score: 337
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 1.48
    Marker Score: 2652
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.48
    Marker Score: 692
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 1.48
    Marker Score: 388
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 1.47
    Marker Score: 1330
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 1.45
    Marker Score: 3545
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 1.45
    Marker Score: 1281
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 1.45
    Marker Score: 892
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 1.44
    Marker Score: 347

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Other Information

**Key characteristics:** * Cathepsin C is a secreted protein that is found in both free form and as part of larger protein complexes. * It is a key enzyme in the regulation of inflammation and tissue remodeling. * It is involved in the activation of the innate immune system and the regulation of cell migration and proliferation. **Pathways and functions:** * Cathepsin C is involved in the regulation of innate immune responses by cleaving various substrates involved in inflammation, cell migration, and tissue remodeling. * It is a key regulator of the inflammatory response in the skin, where it is expressed in immune cells and epithelial cells. * It is also involved in the regulation of tissue remodeling in the skin and other tissues. **Clinical significance:** * Mutations in the CTSC gene have been linked to the pathogenesis of several human diseases, including psoriasis, rheumatoid arthritis, and cancer. * Cathepsin C inhibitors are being investigated as potential therapeutic agents for these diseases. **Additional information:** * The CTSC gene is located on chromosome 17q21. * It is a highly conserved protein with a wide expression in mammals. * It is a secreted protein that is processed by the proteasome into a mature form that is active.

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 EC 1 EMBL 22 EPD 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 32 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 17 PDBsum 10 PIR 2 PRINTS 1 PRO 1 PROSITE 3 PROSITE-ProRule 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. For the full schema, download it here.