Property Summary

NCBI Gene PubMed Count 23
Grant Count 49
R01 Count 14
Funding $5,171,949.1
PubMed Score 27.22
PubTator Score 24.68

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma 1.733 0.007
atypical teratoid / rhabdoid tumor 1.500 0.000
glioblastoma 1.200 0.000
medulloblastoma, large-cell 1.100 0.001
non-small cell lung cancer 1.132 0.000
ovarian cancer 1.900 0.000
pituitary cancer -1.200 0.000

Gene RIF (11)

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.
22615817 This is the first report of a mutation in LEPRE1 that eliminates only the KDEL ER-retrieval sequence, whereas other functional domains remain intact
22281939 0.4% of Mid-Atlantic African Americans and 1.48% West Africans carry mutation in LEPRE1 which causes lethal recessive osteogenesis imperfecta.
21667357 Mutation analyses were performed for COL1A1, COL1A2, CRTAP, and LEPRE1 in a cohort of 58 unrelated Chinese patients with osteogenesis imperfecta.
20946018 We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation
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.
19088120 Findings suggest that the 3-hydroxylation function of P3H1 is restricted to the 736AA splice form.
18996919 Mutations in CRTAP and LEPRE1 are found in 3 patients with type II osteogenesis imperfecta.
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AA Sequence

MAVRALKLLTTLLAVVAAASQAEVESEAGWGMVTPDLLFAEGTAAYARGDWPGVVLSMERALRSRAALRA      1 - 70
LRLRCRTQCAADFPWELDPDWSPSPAQASGAAALRDLSFFGGLLRRAACLRRCLGPPAAHSLSEEMELEF     71 - 140
RKRSPYNYLQVAYFKINKLEKAVAAAHTFFVGNPEHMEMQQNLDYYQTMSGVKEADFKDLETQPHMQEFR    141 - 210
LGVRLYSEEQPQEAVPHLEAALQEYFVAYEECRALCEGPYDYDGYNYLEYNADLFQAITDHYIQVLNCKQ    211 - 280
NCVTELASHPSREKPFEDFLPSHYNYLQFAYYNIGNYTQAVECAKTYLLFFPNDEVMNQNLAYYAAMLGE    281 - 350
EHTRSIGPRESAKEYRQRSLLEKELLFFAYDVFGIPFVDPDSWTPEEVIPKRLQEKQKSERETAVRISQE    351 - 420
IGNLMKEIETLVEEKTKESLDVSRLTREGGPLLYEGISLTMNSKLLNGSQRVVMDGVISDHECQELQRLT    421 - 490
NVAATSGDGYRGQTSPHTPNEKFYGVTVFKALKLGQEGKVPLQSAHLYYNVTEKVRRIMESYFRLDTPLY    491 - 560
FSYSHLVCRTAIEEVQAERKDDSHPVHVDNCILNAETLVCVKEPPAYTFRDYSAILYLNGDFDGGNFYFT    561 - 630
ELDAKTVTAEVQPQCGRAVGFSSGTENPHGVKAVTRGQRCAIALWFTLDPRHSERDRVQADDLVKMLFSP    631 - 700
EEMDLSQEQPLDAQQGPPEPAQESLSGSESKPKDEL                                      701 - 736
//

Text Mined References (26)

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.
22615817 2012 A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.
22281939 2012 A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
21667357 2012 The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
21269460 2011 Initial characterization of the human central proteome.
20946018 Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.
20089953 2010 Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
19946888 2010 Defining the membrane proteome of NK cells.
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