Cartilage associated protein

CRTAP
Identifiers
Aliases	CRTAP , CASP, LEPREL3, OI7, P3H5, cartilage associated protein
External IDs	OMIM: 605497; MGI: 1891221; HomoloGene: 21280; GeneCards: CRTAP; OMA:CRTAP - orthologs
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 114,204,202 bp [2] End 114,219,743 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii stromal cell of endometrium canal of the cervix Descending thoracic aorta right coronary artery ascending aorta body of uterus gallbladder popliteal artery tibial arteries Top expressed in calvaria body of femur molar stroma of bone marrow efferent ductule dermis external carotid artery sciatic nerve atrium internal carotid artery More reference expression data BioGPS 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 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: 114.2 – 114.22 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Structure and 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]

CRTAP forms a tight protein complex with two other enzymes involved in post-translational modification: Leprecan (P3H1) and PPIB. ^[7] In this complex, CRTAP acts as a collagen-binding site, capturing substrates for subsequent enzymatic processing by P3H1 and PPIB. Notably, CRTAP exhibits a folding pattern similar to the N-terminal domain of P3H1.

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. ^{[8] [9]}

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, et al. (1999). "cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)". Cytogenetics and Cell Genetics. 87 (3–4): 191–194. doi:10.1159/000015463. PMID   10702664. S2CID   24887051.
7. Li W, Peng J, Yao D, Rao B, Xia Y, Wang Q, et al. (September 2024). "The structural basis for the collagen processing by human P3H1/CRTAP/PPIB ternary complex". Nature Communications. 15 (1): 7844. doi:10.1038/s41467-024-52321-6. PMC   11381544 . PMID   39245686.
8. Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, et al. (December 2006). "Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta". The New England Journal of Medicine. 355 (26): 2757–2764. doi:10.1056/NEJMoa063804. PMC   7509984 . PMID   17192541.
9. Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, et al. (December 2008). "CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta". Human Mutation. 29 (12): 1435–1442. doi:10.1002/humu.20799. PMC   2671575 . PMID   18566967.

Further reading

• Marini JC, Cabral WA, Barnes AM (January 2010). "Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta". Cell and Tissue Research. 339 (1): 59–70. doi:10.1007/s00441-009-0872-0. PMC   3156555 . PMID   19862557.
• Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, et al. (October 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.
• Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC (January 2010). "Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex". Human Molecular Genetics. 19 (2): 223–234. doi:10.1093/hmg/ddp481. PMC   2796888 . PMID   19846465.
• Li GH, Kung AW, Huang QY (June 2010). "Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women". Osteoporosis International. 21 (6): 1009–1020. doi:10.1007/s00198-009-1043-6. PMC   2946578 . PMID   19727905.
• Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, et al. (February 2009). "Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships". Human Molecular Genetics. 18 (3): 463–471. doi:10.1093/hmg/ddn374. PMC   2638801 . PMID   18996919.
• Morello R, Tonachini L, Monticone M, Viggiano L, Rocchi M, Cancedda R, et al. (June 1999). "cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein". Matrix Biology. 18 (3): 319–324. doi:10.1016/S0945-053X(99)00002-5. PMID   10429950.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Castagnola P, Gennari M, Morello R, Tonachini L, Marin O, Gaggero A, et al. (June 1997). "Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein". Journal of Cell Science. 110. 110 (12): 1351–1359. doi:10.1242/jcs.110.12.1351. PMID   9217321.
• Sowa ME, Bennett EJ, Gygi SP, Harper JW (July 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, Dalton A, Bongers EM, van de Kamp JM, et al. (December 2009). "CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis". European Journal of Human Genetics. 17 (12): 1560–1569. 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.