ID:P3H1_HUMAN DESCRIPTION: RecName: Full=Prolyl 3-hydroxylase 1; EC=1.14.11.7; AltName: Full=Growth suppressor 1; AltName: Full=Leucine- and proline-enriched proteoglycan 1; Short=Leprecan-1; Flags: Precursor; FUNCTION: Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro- Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts. CATALYTIC ACTIVITY: L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-3-hydroxy-L-proline-[procollagen] + succinate + CO(2). COFACTOR: Iron (By similarity). COFACTOR: Ascorbate (By similarity). SUBCELLULAR LOCATION: Endoplasmic reticulum (By similarity). Secreted, extracellular space, extracellular matrix (By similarity). Note=Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG). PTM: O-glycosylated; chondroitin sulfate (By similarity). DISEASE: Defects in LEPRE1 are the cause of osteogenesis imperfecta type 8 (OI8) [MIM:610915]. A connective tissue disorder characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest. SIMILARITY: Belongs to the leprecan family. SIMILARITY: Contains 1 Fe2OG dioxygenase domain. SIMILARITY: Contains 4 TPR repeats. SEQUENCE CAUTION: Sequence=AAH15309.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI08312.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAB15256.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LEPRE1"; WEB RESOURCE: Name=Osteogenesis imperfecta variant database; Note=Prolyl 3-hydroxylase 1 (LEPRE1); URL="http://oi.gene.le.ac.uk/home.php?select_db=LEPRE1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 48439 - Protein prenylyltransferase 48452 - TPR-like
ModBase Predicted Comparative 3D Structure on Q32P28
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003674 molecular_function GO:0005506 iron ion binding GO:0016491 oxidoreductase activity GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0019797 procollagen-proline 3-dioxygenase activity GO:0031418 L-ascorbic acid binding GO:0044877 macromolecular complex binding GO:0046872 metal ion binding GO:0051213 dioxygenase activity GO:0005518 collagen binding
Biological Process: GO:0006457 protein folding GO:0008285 negative regulation of cell proliferation GO:0010976 positive regulation of neuron projection development GO:0018126 protein hydroxylation GO:0019511 peptidyl-proline hydroxylation GO:0032963 collagen metabolic process GO:0050708 regulation of protein secretion GO:0050821 protein stabilization GO:0055114 oxidation-reduction process GO:0060348 bone development GO:0061077 chaperone-mediated protein folding GO:1901874 negative regulation of post-translational protein modification
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
