Cartilage associated protein

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)
End	33,147,773 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	114,219,743 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; canal of the cervix; ; right coronary artery; ; ascending aorta; ; gallbladder; ; popliteal artery; ; left uterine tube; ; gastric mucosa; ; left coronary artery; ; Achilles tendon;
	Top expressed in
	calvaria; ; body of femur; ; molar; ; dermis; ; external carotid artery; ; sciatic nerve; ; atrium; ; internal carotid artery; ; yolk sac; ; belly cord;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein-containing complex binding ; protein binding ;
Cellular component	extracellular region ; protein-containing complex ; endoplasmic reticulum lumen ; endoplasmic reticulum ; extracellular space ;
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
	10491
	56693
	ENSG00000170275
	ENSMUSG00000032431
	O75718
	Q9CYD3
	NM_006371
	NM_019922
	NP_006362
	NP_064306
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 19, 2024

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

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]

Related Research Articles

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000170275 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032431 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. S2CID 24887051.
↑ 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.
↑ 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.

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. Bibcode:2002PNAS...9916899M. 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) (12): 1351–9. doi:10.1242/jcs.110.12.1351. 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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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000170275 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: cartilage associated protein".

[pmid10702664-6] 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.

[pmid17192541-7] 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.

[pmid18566967-8] 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.

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Cartilage associated protein

Contents

Function

Clinical significance

Related Research Articles

References

Further reading