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:
  • Ehlers-Danlos syndrome type 6
  • Nevo syndrome

More general terms

• hydroxylase; monooxygenase
• dioxygenase
• glycoprotein
• secreted protein

Database

• UniProt: http://www.uniprot.org/uniprot/Q02809.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5351
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5351
• OMIM: https://mirror.omim.org/entry/153454
• OMIM: https://mirror.omim.org/entry/225400
• OMIM: https://mirror.omim.org/entry/601451