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FLASH GENE
Symbol CYP27B1 contributors: mct/npt - updated : 27-06-2009
HGNC name cytochrome P450, family 27, subfamily B, polypeptide 1
HGNC id 2606
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Urinarykidneytubuleconvoluted tubuleproximal tubulehighly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/lining   
cells
SystemCellPubmedSpeciesStageRna symbol
skin tegumenthair follicle
Urinaryepithelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated HemoP
mono polymer monomer
HOMOLOGY
interspecies homolog to murine Cyp40
Homologene
FAMILY
  • cytochrome P450 subfamily XXVIIB
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • plays a pivotal role in vitamin D physiology by catalyzing synthesis of active 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] (Wu 2007)
  • putative intracrine modulator of vitamin D function in peripheral tissues
  • acting predominantly on endochondral bone formation
  • during pregnancy, calcitriol, the active metabolite of vitamin D, is metabolized by decidua and placental tissue by means of CYP27B1 and CYP24A1 for synthesis and inactivation of calcitriol respectively(PMIDC:
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , electron transport , detoxification
    text
  • involved in normal bone growth, tissue differentiation and calcium homeostasis, oxidative metabolism
    • PATHWAY
    metabolism drug , lipid/lipoprotein , vitamin
    signaling
    vitamin biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH, heme
    • protein
  • flavoprotein P450 oxidoreductase (POR)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PDDR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in renal cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    targeted ablation induces skeletal, reproductive, immune dysfunction