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FLASH GENE
Symbol CYP27A1 contributors: mct - updated : 28-08-2010
HGNC name cytochrome P450, family 27, subfamily A, polypeptide 1
HGNC id 2605
Corresponding disease
CTX cerebrotendinous xanthomatosis
Location 2q35      Physical location : 219.646.471 - 219.680.015
Synonym name
  • cholestanetriol 26-monooxygenase
  • vitamin D(3) 25-hydroxylase
  • cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1
  • sterol 27-hydroxylase
    • Synonym symbol(s) CTX, CP27, CYP27
    EC.number 1.14.13.15
    DNA
    TYPE functioning gene
    STRUCTURE 33.54 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site
    text structure binding sites for sp1 and LFB1
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2388 60.2 531 - Cali (1991)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     liver    
    Nervousnervecranial nerve  highly
    Skin/Tegumentskin   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver, kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 33 AA mitochondrial signal sequence
    • conjugated HemoP
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Cyp27
    Homologene
    FAMILY
  • cytochrome P450 family
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
    • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • catalyzing the initial oxidation of side chain of sterol intermediates in hepatic bile synthesis and hydroxylations important for bioactivation of vitamin D(3)
  • 27-hydroxylation of cholestanetriol, a cholesterol metabolite
  • playing a role in inactivation of oxysterols
  • catalysing an important sterol elimination pathway in the macrophage, and consequently may protect against atherosclerosis
  • required for the hepatic conversion of cholesterol into bile acids and for production of 27-hydroxycholesterol which affects cholesterol homeostasis in several ways (Tang 2008)
  • modulates progesterone concentrations (Escher 2009)
  • involved in the normal oxidation of the steroid side-chain in connection with biosynthesis of bile acids in the liver (Bjorkhem 2010)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS excretion , electron transport , detoxification
    text oxidative metabolism
    PATHWAY
    metabolism drug , lipid/lipoprotein
    signaling
    cholesterol
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • adrenodoxin
  • NADPH, heme
    • protein
  • flavoprotein P450
  • oxidoreductase (POR)
  • adrenodoxin reductase
    • cell & other
    REGULATION
    activated by PPARgamma (may represent a key previously unrecognized mechanism by which PPARgamma protects against atherosclerosis)
    induced by glucocorticoids (glucocorticoid-mediated induction of CYP27A1 transcription is of particular interest due to the anti-atherogenic properties ascribed to this enzyme)(Tang 2008)
    Other regulated by growth hormone (GH), insulin-like growth factor-1 (IGF-1), dexamethasone, thyroid hormones and signal-transduction pathways
    ASSOCIATED DISORDERS
    corresponding disease(s) CTX
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in hepatic carcinomas
    tumoral     --over  
    in colorectal carcinoma (Matusiak 2007)
    tumoral     --over  
    in endometrial carcinoma, correlated directly with nuclear VDR levels, an indicator of ligand-induced VDR activation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS