CILP

Protein-coding gene in humans
CILP
Identifiers
AliasesCILP, CILP-1, HsT18872, cartilage intermediate layer protein
External IDsOMIM: 603489; MGI: 2444507; HomoloGene: 2679; GeneCards: CILP; OMA:CILP - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for CILP
Genomic location for CILP
Band15q22.31Start65,194,760 bp[1]
End65,211,473 bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for CILP
Genomic location for CILP
Band9|9 CStart65,172,462 bp[2]
End65,187,887 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Achilles tendon

  • tendon of biceps brachii

  • synovial joint

  • pericardium

  • subcutaneous adipose tissue

  • skin of hip

  • thoracic diaphragm

  • gallbladder

  • decidua

  • tibia
Top expressed in
  • ankle

  • intercostal muscle

  • sciatic nerve

  • lip

  • soleus muscle

  • epithelium of lens

  • esophagus

  • medial head of gastrocnemius muscle

  • temporal muscle

  • thoracic diaphragm
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
SpeciesHumanMouse
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 MbChr 9: 65.17 – 65.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000138615 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase".

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.


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