Property Summary

NCBI Gene PubMed Count 19
PubMed Score 29.69
PubTator Score 63.69

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
ovarian cancer 8492 7.17293655953909E-10
pilocytic astrocytoma 3086 1.93496160499114E-7
osteosarcoma 7933 4.11362579222754E-7
posterior fossa group A ependymoma 1511 5.07177627220838E-7
pediatric high grade glioma 2712 8.91102484980052E-7
sonic hedgehog group medulloblastoma 1482 7.27286469127864E-6
medulloblastoma, large-cell 6234 1.6033866910015E-5
atypical teratoid / rhabdoid tumor 4369 3.8215227767359E-5
glioblastoma 5572 8.47691720974834E-5
breast carcinoma 1614 1.14475521340085E-4
psoriasis 6685 1.14579752753098E-4
lung cancer 4473 5.2436461343323E-4
ductal carcinoma in situ 1745 9.79815670083255E-4
diabetes mellitus 1663 0.00328718395239991
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00572140213363516
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00881338189984604
fibroadenoma 557 0.01000581677644
invasive ductal carcinoma 2950 0.0112122138016389
oligodendroglioma 2849 0.0128361260913523
subependymal giant cell astrocytoma 2287 0.0240335869247411
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.029397988467865
Disease Target Count
Osteogenesis imperfecta 7 1

Expression

Synonym

Accession O75718 B2RBL6
Symbols OI7
CASP
P3H5
LEPREL3

Gene

PANTHER Protein Class (1)

  Ortholog (7)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

 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.
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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.
More...