Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PLOD1 contributors: npt/mct - updated : 20-06-2018
HGNC name procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
HGNC id 9081
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 mouthgingiva  highly
Nervousbrain    
Reproductivemale systemprostate   
Respiratorylung    
Skin/Tegumentskin   highly
Urinarykidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • prolyl/lysyl hydroxylase (PKHD) active site domain localized at the C terminus, with a signal peptide 18AA, and primary ER localization motif within a 40-amino acid segment (Suokas 2003)
    • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • prolyl/lysyl hydroxylase (PKHD) family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text peripheral membrane protein in the lumen of the endoplasmic reticulum (ER) (Suokas 2003)
    basic FUNCTION
  • catalyses the hydroxylation of lysine residues during the posttranslational modification of type I collagen, the major protein of bone (Tasker 2006)
  • PLOD1 and lysyl oxidase (LOX), contribute to ECM maturation and stabilization
  • LOX and PLOD1 are critical players in vascular calcification, and important role of ECM remodeling in this process
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • FKBP10 forms complexes with PLOD2 splice variants LH2A and LH2B but not with PLOD1 and PLOD3
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • iron
  • ascorbate
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EDS6
    Susceptibility
  • to variation of association of bone mineral density
    • Variant & Polymorphism other
  • association of polymorphisms with bone mineral density variation
  • PLOD1 rs7529452 (C385T; F98F)showed significant genotypic/allelic associations with BMD, and osteoporosis
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS