leucine proline-enriched proteoglycan (leprecan) 1
Symbol
LEPRE1
(may also be known as: None)
Organism
Human
Description
This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
Orthologs
| Symbol | Species | |
|---|---|---|
| CELE_Y73F8A.26 | Caenorhabditis elegans | |
| lepre1 | Danio rerio | |
| Lepre1 | Mus musculus | |
| Lepre1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0008285 | negative regulation of cell proliferation | biological_process | |
| GO:0016049 | cell growth | biological_process | |
| GO:0005575 | cellular_component | cellular_component | |
| GO:0005576 | extracellular region | cellular_component | |
| GO:0005578 | proteinaceous extracellular matrix | cellular_component | |
| GO:0005634 | nucleus | cellular_component | |
| GO:0005737 | cytoplasm | cellular_component | |
| GO:0005783 | endoplasmic reticulum | cellular_component | |
| GO:0003674 | molecular_function | molecular_function | |
| GO:0005488 | binding | molecular_function | |
| GO:0005506 | iron ion binding | molecular_function | |
| GO:0016702 | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | molecular_function | |
| GO:0016706 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors | molecular_function | |
| GO:0019797 | procollagen-proline 3-dioxygenase activity | molecular_function | |
| GO:0031418 | L-ascorbic acid binding | molecular_function | |
| GO:0046872 | metal ion binding | molecular_function | |