Cartilage associated protein

CRTAP

Identifiers

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]
Band	3p22.3	End	33,147,773 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 9 (mouse)^[2]

Band	9\|9 F3	Start	114,204,202 bp^[2]
Band	9\|9 F3	End	114,219,743 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

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]

YouTube Encyclopedic

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Transcription

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.

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.

Protein: scleroproteins

Extracellular
matrix

Collagen

Fibril forming	type I COL1A1 COL1A2 type II (COL2A1) type III type V COL5A1 COL5A2 COL5A3 COL24A1 COL26A1
Other	FACIT: type IX COL9A1 COL9A2 COL9A3 type XII (COL12A1) COL14A1 COL16A1 COL19A1 COL20A1 COL21A1 COL22A1 basement membrane: type IV COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 multiplexin: COL15A1 type XVIII COL18A1 Endostatin transmembrane: COL13A1 COL17A1 COL23A1 COL25A1 other: type VI COL6A1 COL6A2 COL6A3 COL6A5 type VII (COL7A1) type VIII COL8A1 COL8A2 type X (COL10A1) type XI COL11A1 COL11A2 COL27A1 COL28A1
Enzymes	Prolyl hydroxylase/Lysyl hydroxylase Cartilage associated protein/Leprecan ADAMTS2 Procollagen peptidase Lysyl oxidase

Laminin

alpha
- LAMA1
- LAMA2
- LAMA3
- LAMA4
- LAMA5
beta
- LAMB1
- LAMB2
- LAMB3
- LAMB4
gamma
- LAMC1
- LAMC2
- LAMC3

Other

See also: diseases

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

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 18 January 2024, at 23:04

From Wikipedia, the free encyclopedia

YouTube Encyclopedic

Transcription

Function

Clinical significance

References

Further reading