From Wikipedia, the free encyclopedia
Protein found in humans
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]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000170275 –
Ensembl , May 2017
^
a
b
c
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 .
^
a
b
"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 .
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.
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 .
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .