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) [1] Band 15q22.31 Start 65,194,760 bp [1] End 65,211,473 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 C Start 65,172,462 bp [2] End 65,187,887 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon synovial joint pericardium subcutaneous adipose tissue thoracic diaphragm gallbladder tibia synovial membrane cancellous 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cartilage intermediate layer protein 1 is a protein that in humans is encoded by the CILP gene. ^{[5] [6] [7]}

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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000138615 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000042254 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Lorenzo P, Neame P, Sommarin Y, Heinegard D (Oct 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. doi: 10.1074/jbc.273.36.23469 . PMID   9722584.
6. Lorenzo P, Bayliss MT, Heinegard D (Oct 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. doi: 10.1074/jbc.273.36.23463 . PMID   9722583.
7. "Entrez Gene: CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase".

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.