Cartilage associated protein

Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.[5][6]

CRTAP
Identifiers
Aliases	CRTAP, CASP, LEPREL3, OI7, P3H5, cartilage associated protein
External IDs	OMIM: 605497 MGI: 1891221 HomoloGene: 21280 GeneCards: CRTAP
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p22.3 Start 33,114,014 bp[1] End 33,147,773 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 F3 Start 114,375,134 bp[2] End 114,390,675 bp[2]
Gene ontology Molecular function • GO:0032403 macromolecular complex binding • GO:0001948 protein binding Cellular component • extracellular region • macromolecular complex • endoplasmic reticulum lumen • endoplasmic reticulum • extracellular Biological process • protein stabilization • negative regulation of post-translational protein modification • spermatogenesis • peptidyl-proline hydroxylation to 3-hydroxy-L-proline • chaperone-mediated protein folding Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10491	56693
Ensembl	ENSG00000170275	ENSMUSG00000032431
UniProt	O75718	Q9CYD3
RefSeq (mRNA)	NM_006371	NM_019922
RefSeq (protein)	NP_006362	NP_064306
Location (UCSC)	Chr 3: 33.11 – 33.15 Mb	Chr 9: 114.38 – 114.39 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[5]

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.[7][8]

References

1. GRCh38: Ensembl release 89: ENSG00000170275 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032431 - 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. "Entrez Gene: cartilage associated protein".
6. Tonachini L, Morello R, Monticone M, Skaug J, Scherer SW, Cancedda R, Castagnola P (1999). "cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)". Cytogenet. Cell Genet. 87 (3–4): 191–4. doi:10.1159/000015463. PMID 10702664. S2CID 24887051.
7. Barnes AM, Chang W, Morello R, et al. (December 2006). "Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta". N. Engl. J. Med. 355 (26): 2757–64. doi:10.1056/NEJMoa063804. PMC 7509984. PMID 17192541.
8. Baldridge D, Schwarze U, Morello R, et al. (December 2008). "CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta". Hum. Mutat. 29 (12): 1435–42. doi:10.1002/humu.20799. PMC 2671575. PMID 18566967.

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. PMC 3156555. 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.
• 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. S2CID 8123837.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.

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