Cloned (Comment) | Organism |
---|---|
DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes | Homo sapiens |
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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
additional information | P3H1 contains transmembrane sequences Ala5-Val33 and Glu372-Phe387, but is not associated with membranes | Homo sapiens | - |
- |
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 | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
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 | 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 | ? | - |
? | |
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 | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
LEPRE1 | - |
Homo sapiens |
P3H1 | - |
Homo sapiens |
prolyl 3-hydroxylase 1 | - |
Homo sapiens |
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 |