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MGP002330

UniProt Annotations

Entry Information
Gene Nameprocollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
Protein EntryPLOD1_HUMAN
UniProt IDQ02809
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q02809-1; Sequence=Displayed; Name=2; IsoId=Q02809-2; Sequence=VSP_056300; Note=No experimental confirmation available.;
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;
DiseaseEhlers-Danlos syndrome 6 (EDS6) [MIM:225400]: A connective tissue disorder characterized by generalized joint hypermobility, hyperextensible skin, atrophic cutaneous scars due to tissue fragility, progressive kyphoscoliosis already present at birth, ocular manifestations, arterial rupture, easy bruising, severe neonatal muscle hypotonia and delayed motor development. {ECO:0000269|PubMed:10686424, ECO:0000269|PubMed:15666309, ECO:0000269|PubMed:15854030, ECO:0000269|PubMed:15979919, ECO:0000269|PubMed:8163671, ECO:0000269|PubMed:9617436}. 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.
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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