CILP

CILP
Identifiers
Aliases	CILP, CILP-1, HsT18872, cartilage intermediate layer protein
External IDs	OMIM: 603489 MGI: 2444507 HomoloGene: 2679 GeneCards: CILP
Gene location (Human) Chr. Chromosome 15 (human) Band 15q22.31 Start 65,194,760 bp End 65,211,473 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 C Start 65,172,462 bp End 65,187,887 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon synovial joint pericardium subcutaneous adipose tissue thoracic diaphragm gallbladder tibia synovial membrane trabecular bone body of tongue Top expressed in ankle intercostal muscle sciatic nerve lip soleus muscle esophagus temporal muscle thoracic diaphragm quadriceps femoris muscle knee joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide diphosphatase activity alkaline phosphatase activity extracellular matrix structural constituent Cellular component extracellular region extracellular matrix extracellular exosome extracellular space collagen-containing extracellular matrix Biological process negative regulation of insulin-like growth factor receptor signaling pathway negative regulation of gene expression dephosphorylation negative regulation of SMAD protein signal transduction cellular response to transforming growth factor beta stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8483 214425 Ensembl ENSG00000138615 ENSMUSG00000042254 UniProt O75339 Q66K08 RefSeq (mRNA) NM_003613 NM_173385 NM_001364527 RefSeq (protein) NP_003604 NP_775561 NP_001351456 Location (UCSC) Chr 15: 65.19 – 65.21 Mb Chr 9: 65.17 – 65.19 Mb PubMed search
Wikidata
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Cartilage intermediate layer protein 1 is a protein that in humans is encoded by the CILP gene.

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.

External links

• Human CILP genome location and CILP gene details page in the UCSC Genome Browser.

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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• 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. doi:10.1007/s100380050143. 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. doi:10.1016/S0945-053X(99)00035-9. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. PMC 403697. 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. doi:10.1136/ard.2003.008045. PMC 1754905. 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. S2CID 7221083.
• 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. PMC 528928. 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. S2CID 27694412.
• 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. PMC 2598035. PMID 17220213.