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lysyl hydroxylase 1; procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; LH1 (PLOD1, LLH, PLOD)
Function:
- forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens; these hydroxylysines serve as sites of attachment for carbohydrate units essential for stability of intermolecular collagen cross-links
procollagen L-lysine + 2-oxoglutarate + O2
procollagen 5-hydroxy-L-lysine + succinate + CO2
Cofactor: iron, ascorbate
Structure:
- homodimer
- contains 1 PKHD (prolyl/lysyl hydroxylase) domain
Compartment:
- rough endoplasmic reticulum membrane
- peripheral membrane protein; lumenal side
Pathology:
- defects in PLOD1 are the cause of:
a) Ehlers-Danlos syndrome type 6
b) Nevo syndrome
Related
PLOD gene
General
dioxygenase
glycoprotein
hydroxylase; monooxygenase
secreted protein
Properties
SIZE: entity length = 727 aa
MW = 84 kD
COMPARTMENT: endoplasmic reticulum
MOTIF: signal sequence {1-18}
N-glycosylation site {N163}
N-glycosylation site {N197}
N-glycosylation site {N538}
PKHD {553-727}
MOTIF: Iron [Fe]-binding site
SITE: 656-656
Iron [Fe]-binding site
SITE: 658-658
N-glycosylation site {N686}
Iron [Fe]-binding site
SITE: 708-708
arginine residue {R718}
Database Correlations
OMIM correlations
UniProt Q02809
Pfam PF03171
Entrez Gene 5351
Kegg hsa:5351
ENZYME 1.14.11.4
References
- UniProt :accession Q02809
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PLOD1