CRTAP Gene

Name	cartilage associated protein
Description	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. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Cartilage‐associated protein (CRTAP) is a critical non‐enzymatic component of an endoplasmic reticulum–resident complex that ensures the correct posttranslational modification and folding of fibrillar collagens. Together with prolyl 3‐hydroxylase–1 (P3H1) and cyclophilin B, CRTAP facilitates the 3‑hydroxylation of a specific proline residue (Pro986) in the α1 chains of type I collagen, a modification that is essential for proper collagen fibrillogenesis and overall matrix assembly."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Although CRTAP does not harbor the conventional dioxygenase catalytic domain seen in prolyl hydroxylases, it functions as a stabilizer and molecular chaperone that ensures proper complex assembly and efficient collagen folding. Loss‐of‐function mutations in CRTAP destabilize this complex, leading to delayed collagen helix formation with compensatory overmodification of collagen chains. These defects in collagen processing result in abnormal fibril formation and impaired bone matrix quality, which underlies the development of recessively inherited osteogenesis imperfecta with variable clinical severity—from perinatal lethal forms to severe, deforming phenotypes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Roy Morello, Terry K Bertin, Yuqing Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2006.08.039"}], "href": "https://doi.org/10.1016/j.cell.2006.08.039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17055431"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17055431"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Fleur S van Dijk, Isabel M Nesbitt, Eline H Zwikstra, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PPIB mutations cause severe osteogenesis imperfecta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2009.09.001"}], "href": "https://doi.org/10.1016/j.ajhg.2009.09.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19781681"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19781681"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Dustin Baldridge, Ulrike Schwarze, Roy Morello, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20799"}], "href": "https://doi.org/10.1002/humu.20799"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18566967"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18566967"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Brian P Kelley, Fransiska Malfait, Luisa Bonafe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Bone Miner Res (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jbmr.250"}], "href": "https://doi.org/10.1002/jbmr.250"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20839288"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20839288"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Shawna M Pyott, Ulrike Schwarze, Helena E Christiansen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddr037"}], "href": "https://doi.org/10.1093/hmg/ddr037"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21282188"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21282188"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Joan C Marini, Wayne A Cabral, Aileen M Barnes "}, {"type": "b", "children": [{"type": "t", "text": "Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Tissue Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00441-009-0872-0"}], "href": "https://doi.org/10.1007/s00441-009-0872-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19862557"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19862557"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Dale L Bodian, Ting-Fung Chan, Annie Poon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddn374"}], "href": "https://doi.org/10.1093/hmg/ddn374"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18996919"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18996919"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Erica P Homan, Caressa Lietman, Ingo Grafe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1004121"}], "href": "https://doi.org/10.1371/journal.pgen.1004121"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24465224"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24465224"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Roy Morello, Frank Rauch "}, {"type": "b", "children": [{"type": "t", "text": "Role of cartilage-associated protein in skeletal development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Osteoporos Rep (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11914-010-0010-7"}], "href": "https://doi.org/10.1007/s11914-010-0010-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20425614"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20425614"}]}]}]}
Synonyms	OI7, P3H5, LEPREL3
Proteins	CRTAP_HUMAN
NCBI Gene ID	10491
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CRTAP has 8,280 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 128 datasets.

Click the + buttons to view associations for CRTAP from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CRTAP Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CRTAP gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CRTAP gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CRTAP gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CRTAP gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CRTAP gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CRTAP gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CRTAP gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CRTAP gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CRTAP gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CRTAP gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CRTAP gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CRTAP gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CRTAP protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CRTAP gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CRTAP gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CRTAP gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CRTAP gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with CRTAP gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CRTAP gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of CRTAP gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CRTAP gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CRTAP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CRTAP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing CRTAP protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CRTAP protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CRTAP protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CRTAP protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CRTAP gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CRTAP gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CRTAP gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CRTAP gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CRTAP gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CRTAP gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for CRTAP protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CRTAP gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CRTAP gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CRTAP gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CRTAP gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CRTAP gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CRTAP gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.