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FLASH GENE
Symbol PLOD1 contributors: npt/mct - updated : 20-06-2018
HGNC name procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
HGNC id 9081
Corresponding disease
EDS6 Ehlers-Danlos syndrome, type VI
Location 1p36.22      Physical location : 11.994.745 - 12.035.593
Synonym name
  • procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)
  • lysyl hydroxylase, isoform 1
  • lysine hydroxylase
    • Synonym symbol(s) LH, LLH, PLOD, RP5-1077B9.2, FLJ42041, LH1, EDS6, EDSKCL1
    EC.number 1.14.11.4
    DNA
    TYPE functioning gene
    STRUCTURE 40.88 kb     19 Exon(s)
    motif repetitive sequence   ALU
    text structure introns 9,16,17
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 3047 - 727 - 2013 23234877
    20 - 3188 - 774 - 2013 23234877
    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