PLOD3
Summary: The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | MIM:603066 | Ensembl:ENSG00000106397 | HGNC:HGNC:9083 | PA33413 | 7q22.1 |
GO terms in PLOD3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005506 | iron ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008475 | procollagen-lysine 5-dioxygenase activity |
| MF | IDA | GO:0008475 | procollagen-lysine 5-dioxygenase activity |
| MF | IMP | GO:0008475 | procollagen-lysine 5-dioxygenase activity |
| MF | TAS | GO:0008475 | procollagen-lysine 5-dioxygenase activity |
| MF | IEA | GO:0031418 | L-ascorbic acid binding |
| MF | IMP | GO:0033823 | procollagen glucosyltransferase activity |
| MF | TAS | GO:0033823 | procollagen glucosyltransferase activity |
| MF | TAS | GO:0050211 | procollagen galactosyltransferase activity |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | TAS | GO:0005783 | endoplasmic reticulum |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0005802 | trans-Golgi network |
| CC | IEA | GO:0030867 | rough endoplasmic reticulum membrane |
| CC | IEA | GO:0031012 | extracellular matrix |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001886 | endothelial cell morphogenesis |
| BP | IMP | GO:0006493 | protein O-linked glycosylation |
| BP | IEA | GO:0008104 | protein localization |
| BP | IBA | GO:0017185 | peptidyl-lysine hydroxylation |
| BP | IDA | GO:0017185 | peptidyl-lysine hydroxylation |
| BP | IMP | GO:0017185 | peptidyl-lysine hydroxylation |
| BP | IEA | GO:0021915 | neural tube development |
| BP | IBA | GO:0030199 | collagen fibril organization |
| BP | IEA | GO:0030199 | collagen fibril organization |
| BP | IEA | GO:0032870 | cellular response to hormone stimulus |
| BP | IBA | GO:0032963 | collagen metabolic process |
| BP | IEA | GO:0032963 | collagen metabolic process |
| BP | IEA | GO:0042311 | vasodilation |
| BP | IBA | GO:0046947 | hydroxylysine biosynthetic process |
| BP | IDA | GO:0046947 | hydroxylysine biosynthetic process |
| BP | IMP | GO:0046947 | hydroxylysine biosynthetic process |
| BP | IEA | GO:0048730 | epidermis morphogenesis |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| BP | IEA | GO:0060425 | lung morphogenesis |
| BP | IEA | GO:0070831 | basement membrane assembly |
Gene expression in normal tissue: PLOD3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PLOD3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| kegg | hsa00514 | Other types of O-glycan biosynthesis - Homo sapiens (human) |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474290 | Collagen formation |
| reactome | R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PLOD3
CLASSFICATION
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