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FLASH GENE
Symbol CYP7B1 contributors: mct/npt - updated : 22-02-2010
HGNC name cytochrome P450, family 7, subfamily B, polypeptide 1
HGNC id 2652
DNA
TYPE functioning gene
STRUCTURE 202.82 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
text structure three GC-box bound to Sp1 and Sp3 sequences
MAPPING cloned Y linked N status provisional
regionally located closely linked to CYP7A1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 2395 - 506 - Stiles (2009)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
 mouthtongue  highly
Lymphoid/Immunespleen   highly
Nervousbrainlimbic systemhippocampus highly
Reproductivefemale systembreastmammary gland highly
 male systemtestis   
 male systemprostate   
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervouspyramidal cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated HemoP
mono polymer monomer
HOMOLOGY
Homologene
FAMILY
  • cytochrome P450, subfamily VIIB
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • catalyzing the first and rate-limiting step in the coonversion of cholesterol to bile acids
  • playing a role in the alternative bile acid synthesis pathway
  • hydroxylates carbons 6 and 7 of the B ring of oxysterols and steroids (Stiles 2009)
  • balancing prostate hormone levels in human cells
  • importance of CYP7B1 in bile salt synthesis and the role of the enzyme in the inactivation of otherwise hepatotoxic oxysterols (Stiles 2009)
  • CYP7B1-mediated catalysis may play a role for control of the cellular levels of androgens, not only of estrogens (Pettersson 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    pathway for cholesterol degradation
    a component
  • component of the acidic pathway of primary bile acids synthesis
  • INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH
  • heme
  • protein
  • flavoprotein P450 oxidoreductase (POR)
  • cell & other
    REGULATION
    Other regulated by Sp1 (transcriptional regulation)
    ASSOCIATED DISORDERS
    corresponding disease(s) CYP7B1 , SPG5A
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    loss of CYP7B1 activity is associated with liver failure in children (Stiles 209)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS