Jump to content

Cartilage associated protein

From Wikipedia, the free encyclopedia

CRTAP
Identifiers
AliasesCRTAP, CASP, LEPREL3, OI7, P3H5, cartilage associated protein
External IDsOMIM: 605497; MGI: 1891221; HomoloGene: 21280; GeneCards: CRTAP; OMA:CRTAP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006371

NM_019922

RefSeq (protein)

NP_006362

NP_064306

Location (UCSC)Chr 3: 33.11 – 33.15 MbChr 9: 114.2 – 114.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Structure and function

[edit]

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

[edit]

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

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170275Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032431Ensembl, 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. ^ a b "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

[edit]

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