Cartilage associated protein

Cartilage associated protein
Identifiers
Symbols	CRTAP; CASP; LEPREL3
External IDs	OMIM: 605497 MGI: 1891221 HomoloGene: 21280 GeneCards: CRTAP Gene
Gene Ontology Molecular function • binding Cellular component • extracellular region • proteinaceous extracellular matrix Biological process • spermatogenesis Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10491	56693
Ensembl	ENSG00000170275	ENSMUSG00000032431
UniProt	O75718	Q9CYD3
RefSeq (mRNA)	NM_006371	NM_019922.2
RefSeq (protein)	NP_006362	NP_064306.2
Location (UCSC)	Chr 3: 33.16 – 33.19 Mb	Chr 9: 114.28 – 114.3 Mb
PubMed search	[1]	[2]

Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.

Function

The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli.

Clinical significance

Mutations in the CRTAP gene are associated with osteogenesis imperfecta, types VII and IIB, a connective tissue disorder characterized by bone fragility and low bone mass.

Further reading

• Marini JC, Cabral WA, Barnes AM (2010). "Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.". Cell Tissue Res. 339 (1): 59–70. doi:10.1007/s00441-009-0872-0. PMID 19862557. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Morello R, Bertin TK, Chen Y, et al. (2006). "CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.". Cell 127 (2): 291–304. doi:10.1016/j.cell.2006.08.039. PMID 17055431. 
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Chang W, Barnes AM, Cabral WA, et al. (2010). "Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.". Hum. Mol. Genet. 19 (2): 223–34. doi:10.1093/hmg/ddp481. PMC 2796888. PMID 19846465. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2796888. 
• Li GH, Kung AW, Huang QY (2010). "Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.". Osteoporos Int 21 (6): 1009–20. doi:10.1007/s00198-009-1043-6. PMC 2946578. PMID 19727905. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2946578. 
• Bodian DL, Chan TF, Poon A, et al. (2009). "Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.". Hum. Mol. Genet. 18 (3): 463–71. doi:10.1093/hmg/ddn374. PMC 2638801. PMID 18996919. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2638801. 
• Morello R, Tonachini L, Monticone M, et al. (1999). "cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein.". Matrix Biol. 18 (3): 319–24. doi:10.1016/S0945-053X(99)00002-5. PMID 10429950. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129. 
• Castagnola P, Gennari M, Morello R, et al. (1997). "Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein.". J. Cell. Sci.. 110 ( Pt 12): 1351–9. PMID 9217321. 
• Sowa ME, Bennett EJ, Gygi SP, Harper JW (2009). "Defining the human deubiquitinating enzyme interaction landscape.". Cell 138 (2): 389–403. doi:10.1016/j.cell.2009.04.042. PMC 2716422. PMID 19615732. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2716422. 
• Van Dijk FS, Nesbitt IM, Nikkels PG, et al. (2009). "CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.". Eur. J. Hum. Genet. 17 (12): 1560–9. doi:10.1038/ejhg.2009.75. PMC 2987020. PMID 19550437. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2987020. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.