CILP

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Cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
Identifiers
Symbol(s) CILP; HsT18872
External IDs OMIM: 603489 MGI: 2444507 HomoloGene: 2679
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 8483 214425
Ensembl ENSG00000138615 ENSMUSG00000042254
Uniprot O75339 Q66K08
Refseq NM_003613 (mRNA)
NP_003604 (protein)		 NM_173385 (mRNA)
NP_775561 (protein)
Location Chr 15: 63.28 - 63.29 Mb Chr 9: 65.06 - 65.08 Mb
Pubmed search [1] [2]

Cartilage intermediate layer protein, nucleotide pyrophosphohydrolase, also known as CILP, is a human gene.[1]

Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. The synthesis of cartilage intermediate layer protein (CILP), which was identified and purified from human articular cartilage, increases in early osteoarthrosis cartilage. The C-terminal 460 amino acids of the protein show 90% similarity to the pig ectonucleotide pyrophosphohydrolase NTPPHase; this region is preceded by a furin protease consensus cleavage site. Thus, the CILP gene is thought to encode a protein precursor for 2 different proteins, namely CILP and a homolog of NTPPHase.[1]

[edit] References

  1. ^ a b Entrez Gene: CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase.

[edit] Further reading

  • 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. 
  • 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. 
  • Lorenzo P, Bayliss MT, Heinegård D (1998). "A novel cartilage protein (CILP) present in the mid-zone of human articular cartilage increases with age.". J. Biol. Chem. 273 (36): 23463–8. PMID 9722583. 
  • Lorenzo P, Neame P, Sommarin Y, Heinegård D (1998). "Cloning and deduced amino acid sequence of a novel cartilage protein (CILP) identifies a proform including a nucleotide pyrophosphohydrolase.". J. Biol. Chem. 273 (36): 23469–75. PMID 9722584. 
  • Nakamura I, Okawa A, Ikegawa S, et al. (1999). "Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP).". J. Hum. Genet. 44 (3): 203–5. PMID 10319588. 
  • Lorenzo P, Aman P, Sommarin Y, Heinegård D (2000). "The human CILP gene: exon/intron organization and chromosomal mapping.". Matrix Biol. 18 (5): 445–54. PMID 10601732. 
  • Tsuruha J, Masuko-Hongo K, Kato T, et al. (2001). "Implication of cartilage intermediate layer protein in cartilage destruction in subsets of patients with osteoarthritis and rheumatoid arthritis.". Arthritis Rheum. 44 (4): 838–45. doi:10.1002/1529-0131(200104)44:4<838::AID-ANR140>3.0.CO;2-C. PMID 11315923. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Hirose J, Ryan LM, Masuda I (2003). "Up-regulated expression of cartilage intermediate-layer protein and ANK in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease.". Arthritis Rheum. 46 (12): 3218–29. doi:10.1002/art.10632. PMID 12483726. 
  • Johnson K, Farley D, Hu SI, Terkeltaub R (2003). "One of two chondrocyte-expressed isoforms of cartilage intermediate-layer protein functions as an insulin-like growth factor 1 antagonist.". Arthritis Rheum. 48 (5): 1302–14. doi:10.1002/art.10927. PMID 12746903. 
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309. 
  • Yao Z, Nakamura H, Masuko-Hongo K, et al. (2004). "Characterisation of cartilage intermediate layer protein (CILP)-induced arthropathy in mice.". Ann. Rheum. Dis. 63 (3): 252–8. PMID 14962958. 
  • Du H, Masuko-Hongo K, Nakamura H, et al. (2006). "The prevalence of autoantibodies against cartilage intermediate layer protein, YKL-39, osteopontin, and cyclic citrullinated peptide in patients with early-stage knee osteoarthritis: evidence of a variety of autoimmune processes.". Rheumatol. Int. 26 (1): 35–41. doi:10.1007/s00296-004-0497-2. PMID 15378262. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Seki S, Kawaguchi Y, Chiba K, et al. (2005). "A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.". Nat. Genet. 37 (6): 607–12. doi:10.1038/ng1557. PMID 15864306. 
  • Mori M, Nakajima M, Mikami Y, et al. (2006). "Transcriptional regulation of the cartilage intermediate layer protein (CILP) gene.". Biochem. Biophys. Res. Commun. 341 (1): 121–7. doi:10.1016/j.bbrc.2005.12.159. PMID 16413503. 
  • Virtanen IM, Song YQ, Cheung KM, et al. (2007). "Phenotypic and population differences in the association between CILP and lumbar disc disease.". J. Med. Genet. 44 (4): 285–8. doi:10.1136/jmg.2006.047076. PMID 17220213. 
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