Property Summary

NCBI Gene PubMed Count 19
PubMed Score 29.69
PubTator Score 63.69

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Expression

  Differential Expression (21)

 GO Function (1)

Gene RIF (12)

PMID Text
26634552 This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP, and PPIB genes. LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI.
24043621 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.
20425614 Importantly, human mutations in the CRTAP gene have been associated with recessive forms of OI.
19895918 CRTAP deficiency results in higher bone mineral content of the bone matrix in osteogenesis imperfecta type VII.
19862557 Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
19846465 CRTAP and P3H1 are mutually stabilized in the collagen prolyl 3-hydroxylation complex in endoplasmic reticulum.
19727905 SNP rs7623768 and the haplotype G-C of rs4076086-rs7623768 in CRTAP were associated with femoral neck bone mineral density (p = 0.009 and p = 0.003, respectively).
19727905 Observational study of gene-disease association. (HuGE Navigator)
19550437 CRTAP mutations not described earlier were identified in 10 individuals who had a clinical diagnosis of lethal and severe osteogenesis imperfecta.
18996919 Mutations in CRTAP and LEPRE1 are found in 3 patients with type II osteogenesis imperfecta.
18566967 Screening of 78 subjects diagnosed with osteogenesis imperfecta type II or III, identified three probands with mutations in CRTAP and 16 with mutations in LEPRE1.
17055431 complexes with prolyl 3-hydroxylase 1 (P3H1) to decrease prolyl 3 hydroxylation; dysregulation of prolyl 3 hydroxylation is a mechanism for connective tissue disease

AA Sequence

MEPGRRGAAALLALLCVACALRAGRAQYERYSFRSFPRDELMPLESAYRHALDKYSGEHWAESVGYLEIS      1 - 70
LRLHRLLRDSEAFCHRNCSAAPQPEPAAGLASYPELRLFGGLLRRAHCLKRCKQGLPAFRQSQPSREVLA     71 - 140
DFQRREPYKFLQFAYFKANNLPKAIAAAHTFLLKHPDDEMMKRNMAYYKSLPGAEDYIKDLETKSYESLF    141 - 210
IRAVRAYNGENWRTSITDMELALPDFFKAFYECLAACEGSREIKDFKDFYLSIADHYVEVLECKIQCEEN    211 - 280
LTPVIGGYPVEKFVATMYHYLQFAYYKLNDLKNAAPCAVSYLLFDQNDKVMQQNLVYYQYHRDTWGLSDE    281 - 350
HFQPRPEAVQFFNVTTLQKELYDFAKENIMDDDEGEVVEYVDDLLELEETS                       351 - 401
//

Text Mined References (22)

PMID Year Title
26634552 2015 Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
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.
21955071 2012 Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.
21269460 2011 Initial characterization of the human central proteome.
20425614 2010 Role of cartilage-associated protein in skeletal development.
20089953 2010 Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
19895918 2010 CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII.
19862557 2010 Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
19846465 2010 Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
19727905 2010 Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.
19550437 2009 CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
18996919 2009 Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
18566967 2008 CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
17055431 2006 CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10702664 1999 cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP).
10429950 1999 cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein.
9217321 1997 Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein.