Cartilage associated protein
| Cartilage associated protein | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | CRTAP ; CASP; LEPREL3; OI7; P3H5 | ||||||||||||
| External IDs | OMIM: 605497 MGI: 1891221 HomoloGene: 21280 GeneCards: CRTAP Gene | ||||||||||||
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| 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 | |||||||||||||
Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.[1][2]
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.[1]
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.[3][4]
References
- 1 2 "Entrez Gene: cartilage associated protein".
- ↑ 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.
- ↑ 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. PMID 17192541.
- ↑ 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.
- 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.
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