leprecan-like 1
Symbol
LEPREL1
(may also be known as: None)
Organism
Human
Description
This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Orthologs
| Symbol | Species | |
|---|---|---|
| leprel1 | Danio rerio | |
| Leprel1 | Mus musculus | |
| Leprel1 | 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:0019511 | peptidyl-proline hydroxylation | biological_process | |
| GO:0032963 | collagen metabolic process | biological_process | |
| GO:0005604 | basement membrane | cellular_component | |
| GO:0005783 | endoplasmic reticulum | cellular_component | |
| GO:0005794 | Golgi apparatus | cellular_component | |
| 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 | |