Cathepsin C

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Cathepsin C
PDB rendering based on 1k3b.
Available structures: 1k3b, 2djf, 2djg
Identifiers
Symbols CTSC; CPPI; DPP1; DPPI; HMS; JP; JPD; PALS; PLS
External IDs OMIM: 602365 MGI: 109553 HomoloGene: 1373
EC number 3.4.14.1
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1075 13032
Ensembl ENSG00000109861 ENSMUSG00000030560
Uniprot P53634 Q3TIF1
Refseq NM_001814 (mRNA)
NP_001805 (protein)		 NM_009982 (mRNA)
NP_034112 (protein)
Location Chr 11: 87.67 - 87.71 Mb Chr 7: 88.15 - 88.19 Mb
Pubmed search [1] [2]

Cathepsin C, also known as CTSC, is a human gene.[1]

The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. It requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre disease,[2][3] an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. Two transcript variants encoding different isoforms have been found for this gene.[1]

References

  1. ^ a b "Entrez Gene: CTSC cathepsin C".
  2. ^ Wani AA, Devkar N, Patole MS, Shouche YS (2006). "Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome". J. Periodontol. 77 (2): 233–7. doi:10.1902/jop.2006.050124. PMID 16460249. 
  3. ^ Meade JL, de Wynter EA, Brett P, Sharif SM, Woods CG, Markham AF, Cook GP (2006). "A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity". Blood 107 (9): 3665–8. doi:10.1182/blood-2005-03-1140. PMID 16410452. 

Further reading

  • McGuire MJ, Lipsky PE, Thiele DL (1992). "Purification and characterization of dipeptidyl peptidase I from human spleen.". Arch. Biochem. Biophys. 295 (2): 280–8. PMID 1586157. 
  • Paris A, Strukelj B, Pungercar J, et al. (1995). "Molecular cloning and sequence analysis of human preprocathepsin C.". FEBS Lett. 369 (2-3): 326–30. PMID 7649281. 
  • Dolenc I, Turk B, Pungercic G, et al. (1995). "Oligomeric structure and substrate induced inhibition of human cathepsin C.". J. Biol. Chem. 270 (37): 21626–31. PMID 7665576. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298. 
  • Rao NV, Rao GV, Hoidal JR (1997). "Human dipeptidyl-peptidase I. Gene characterization, localization, and expression.". J. Biol. Chem. 272 (15): 10260–5. PMID 9092576. 
  • Fischer J, Blanchet-Bardon C, Prud'homme JF, et al. (1997). "Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region.". Eur. J. Hum. Genet. 5 (3): 156–60. PMID 9272739. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149. 
  • Cigić B, Krizaj I, Kralj B, et al. (1998). "Stoichiometry and heterogeneity of the pro-region chain in tetrameric human cathepsin C.". Biochim. Biophys. Acta 1382 (1): 143–50. PMID 9507095. 
  • Toomes C, James J, Wood AJ, et al. (1999). "Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.". Nat. Genet. 23 (4): 421–4. doi:10.1038/70525. PMID 10581027. 
  • Hart TC, Hart PS, Bowden DW, et al. (2000). "Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.". J. Med. Genet. 36 (12): 881–7. PMID 10593994. 
  • Hart TC, Hart PS, Michalec MD, et al. (2000). "Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.". J. Med. Genet. 37 (2): 88–94. PMID 10662807. 
  • Hart TC, Hart PS, Michalec MD, et al. (2000). "Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.". J. Med. Genet. 37 (2): 95–101. PMID 10662808. 
  • Suzuki Y, Ishihara D, Sasaki M, et al. (2000). "Statistical analysis of the 5' untranslated region of human mRNA using "Oligo-Capped" cDNA libraries.". Genomics 64 (3): 286–97. doi:10.1006/geno.2000.6076. PMID 10756096. 
  • Cigić B, Dahl SW, Pain RH (2000). "The residual pro-part of cathepsin C fulfills the criteria required for an intramolecular chaperone in folding and stabilizing the human proenzyme.". Biochemistry 39 (40): 12382–90. PMID 11015218. 
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863. 
  • Hart PS, Zhang Y, Firatli E, et al. (2001). "Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.". J. Med. Genet. 37 (12): 927–32. PMID 11106356. 
  • Zhang Y, Lundgren T, Renvert S, et al. (2001). "Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.". J. Med. Genet. 38 (2): 96–101. PMID 11158173. 
  • Nakano A, Nomura K, Nakano H, et al. (2001). "Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.". J. Invest. Dermatol. 116 (2): 339–43. doi:10.1046/j.1523-1747.2001.01244.x. PMID 11180012. 
  • Allende LM, García-Pérez MA, Moreno A, et al. (2001). "Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.". Hum. Mutat. 17 (2): 152–3. doi:10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-#. PMID 11180601. 
  • Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422–35. doi:10.1101/gr.154701. PMID 11230166. 

External links

 This article on a gene on chromosome 11 is a stub. You can help Wikipedia by expanding it.
v • d • e
Hydrolase: proteases (EC 3.4)
Exopeptidase 3.4.11-19
Endopeptidase 3.4.21-24
Cathepsin 3.4.18,21,22,23
A - B - C - D - E - F - G - H - K - L1/L2 - S - W - Z

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  • This page was last modified on 8 July 2008, at 02:36.

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