CRTAP (cartilage associated protein)

2014-11-01  

Identity

HGNC
LOCATION
3p22.3
LOCUSID
ALIAS
CASP,LEPREL3,OI7,P3H5
FUSION GENES

Other Information

Locus ID:

NCBI: 10491
MIM: 605497
HGNC: 2379
Ensembl: ENSG00000170275

Variants:

dbSNP: 10491
ClinVar: 10491
TCGA: ENSG00000170275
COSMIC: CRTAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170275ENST00000320954O75718
ENSG00000170275ENST00000449224C9JP16

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382146652024Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.0
382146652024Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.0
357031322022Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.1
357031322022Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.1
303891072019Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.0
303891072019Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.0
279013132017CRTAP variants in early-onset osteoporosis and recurrent fractures.0
279013132017CRTAP variants in early-onset osteoporosis and recurrent fractures.0
266345522015Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.6
266345522015Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.6
240436212013An 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
240436212013An 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
197279052010Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.4
197279052010Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.4
198464652010Prolyl 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-explorer/js/favicon/manifest.json