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FLASH GENE
Symbol CYP8B1 contributors: - updated : 07-03-2007
HGNC name cytochrome P450, family 8, subfamily B, polypeptide 1
HGNC id 2653
Location 3p22-p21.3      Physical location : 42.913.684 - 42.917.633
Synonym name
  • sterol 12alpha-hydroxylase
  • 7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase
  • Synonym symbol(s) CP8B, CYP12
    EC.number 1.14.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 3.00 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure intronless
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal hydrophobic region
  • an O2 binding domain
  • a steroidogenic and an heme-binding domains
  • conjugated HemoP
    mono polymer monomer
    HOMOLOGY
    Homologene
    FAMILY
  • cytochrome P450 subfamily VIIIB
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • sterol 12alpha-hydroxylase, controlling the ratio of cholic acid over chenodeoxycholic cholic acid in bile
  • key enzyme in bile acid synthesis
  • enzyme for the synthesis of cholic acid and regulation of liver bile acid synthesis and intestine cholesterol absorption
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    cholesterol
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
    NADPH, heme
    protein flavoprotein P450 oxidoreductase (POR)
    cell & other
    REGULATION
    activated by hepatocyte nuclear factor 4alpha (HNF4alpha) strongly activated CYP8B1 promoter activities
    inhibited by bile acids, cholesterol, and insulin
    repressed by cholesterol loading, reducing SREBPF1 mRNA expression in addition to reducing functional SREBPF1 protein
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS