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Literature summary for 1.14.11.7 extracted from

  • Marini, J.C.; Cabral, W.A.; Barnes, A.M.
    Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta (2009), Cell Tissue Res., 339, 59-70.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information identification of LEPRE1 22 mutant alleles, e.g. the most frequent recurring mutation, IVS5+1G-T, c.1080+1G-T, causing a splice site defect, overview. Enzyme defects lead to lack of 3-hydroxylation of the Pro986 residue. Defects in the genes encoding cartilage-associated protein, CRTAP, or prolyl 3-hydroxylase 1, P3H1/LEPRE1, cause the classical osteogenesis imperfecta, OI, a dominant genetic disorder of connective tissue, overview. Patients with mutations in CRTAP or LEPRE1 have a lethal to severe osteochondrodystrophy that overlaps with Sillence types II and III classical osteogenesis imperfecta but has distinctive features, mechanisms, overview Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
additional information P3H1 contains transmembrane sequences Ala5-Val33 and Glu372-Phe387, but is not associated with membranes Homo sapiens
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Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens the collagen prolyl 3-hydroxylation complex, comprised by cyclophilin B (PPIB), CRTAP and P3H1, catalyzes a specific posttranslational modification of types I, II, and V collagen, and may act as a general chaperone. Collagen 3-hydroxylation complex function, overview ?
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?

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Posttranslational Modification

Posttranslational Modification Comment Organism
additional information the enzyme contains two potential myristoylation sequences G53VVLSM58 and G667QRCAI672 and 20 potential recognition sites for phosphorylation Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information the collagen prolyl 3-hydroxylation complex, comprised by cyclophilin B (PPIB), CRTAP and P3H1, catalyzes a specific posttranslational modification of types I, II, and V collagen, and may act as a general chaperone. Collagen 3-hydroxylation complex function, overview Homo sapiens ?
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?
additional information P3H1 contains four tetratricopeptide repeats, which are important for protein-protein interactions, and a leucine zipper, L445TREGGPLLYEGISLTMNSKLL466, which is involved in protein dimerization Homo sapiens ?
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?

Synonyms

Synonyms Comment Organism
LEPRE1
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Homo sapiens
P3H1
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Homo sapiens
prolyl 3-hydroxylase 1
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Homo sapiens

General Information

General Information Comment Organism
malfunction in case of enzyme defects, 3-hydroxylation of the Pro986 residue is absent or severly reduced. Defects in the genes encoding cartilage-associated protein, CRTAP, or prolyl 3-hydroxylase 1, P3H1/LEPRE1, cause the classical osteogenesis imperfecta, OI, a dominant genetic disorder of connective tissue, overview. Patients with mutations in CRTAP or LEPRE1 have a lethal to severe osteochondrodystrophy that overlaps with Sillence types II and III classical osteogenesis imperfecta but has distinctive features Homo sapiens