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MGP003761

UniProt Annotations

Entry Information
Gene Nameprocollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
Protein EntryPLOD3_HUMAN
UniProt IDO60568
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityL-lysine-[procollagen] + 2-oxoglutarate + O(2) = (2S,5R)-5-hydroxy-L-lysine-[procollagen] + succinate + CO(2).
CofactorName=Fe cation; Xref=ChEBI:CHEBI:24875;
CofactorName=L-ascorbate; Xref=ChEBI:CHEBI:38290;
DiseaseLysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]: Connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders, most of them involving COL2A1 (type II collagen). The findings suggest that the failure of lysyl hydroxylation and hydroxylysyl carbohydrate addition, which affects many collagens, is the molecular basis of this syndrome. {ECO:0000269|PubMed:18834968}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionForms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.
InteractionQ9BQY4:RHOXF2; NbExp=2; IntAct=EBI-741582, EBI-372094;
SimilarityContains 1 Fe2OG dioxygenase domain. {ECO:0000255|PROSITE-ProRule:PRU00805}.
Subcellular LocationRough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side.
SubunitHomodimer.
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