Cartilage associated protein

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

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
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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]