Identity
HGNC
LOCATION
3p22.3
LOCUSID
ALIAS
CASP,LEPREL3,OI7,P3H5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10491
MIM: 605497
HGNC: 2379
Ensembl: ENSG00000170275
Variants:
dbSNP: 10491
ClinVar: 10491
TCGA: ENSG00000170275
COSMIC: CRTAP
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170275 | ENST00000320954 | O75718 |
| ENSG00000170275 | ENST00000449224 | C9JP16 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| Collagen formation | REACTOME | R-HSA-1474290 |
| Collagen biosynthesis and modifying enzymes | REACTOME | R-HSA-1650814 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38214665 | 2024 | Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants. | 0 |
| 38214665 | 2024 | Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants. | 0 |
| 35703132 | 2022 | Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta. | 1 |
| 35703132 | 2022 | Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta. | 1 |
| 30389107 | 2019 | Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases. | 0 |
| 30389107 | 2019 | Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases. | 0 |
| 27901313 | 2017 | CRTAP variants in early-onset osteoporosis and recurrent fractures. | 0 |
| 27901313 | 2017 | CRTAP variants in early-onset osteoporosis and recurrent fractures. | 0 |
| 26634552 | 2015 | Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta. | 6 |
| 26634552 | 2015 | Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta. | 6 |
| 24043621 | 2013 | An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1·cartilage-associated protein·cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro. | 7 |
| 24043621 | 2013 | An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1·cartilage-associated protein·cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro. | 7 |
| 19727905 | 2010 | Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women. | 4 |
| 19727905 | 2010 | Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women. | 4 |
| 19846465 | 2010 | Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. | 35 |
Citation
Dessen P
CRTAP (cartilage associated protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62100/gene-fusions/gene-explorer/
