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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
Corresponding disease
CYP7B1 severe cholestasis
SPG5A spastic paraplegia 5A
Location 8q12.3      Physical location : 65.508.528 - 65.711.348
Synonym name
  • cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1
  • cytochrome P450 7B1
  • 25-hydroxycholesterol 7-alpha- hydroxylase
  • Synonym symbol(s) CP7B,
    EC.number 1.14.13.100
    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
    Physical map
    LOC392226 8 similar to Serine/threonine-protein kinase PLK (PLK-1) (Serine-threonine protein kinase 13) (STPK13) FLJ39630 8q12.2 hypothetical protein FLJ39630 GGH 8q12-q13 gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) TTPA 8q13 tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) FLJ31657 8q12.2 hypothetical protein FLJ31657 LOC346974 8q12.3 similar to Interferon-induced transmembrane protein 3 (Interferon-inducible protein 1-8U) BHLHB5 8q13 basic helix-loop-helix domain containing, class B, 5 CYP7B1 8q21.3 cytochrome P450, family 7, subfamily B, polypeptide 1 LOC389665 8 LOC389665 LOC392227 8 similar to peptidylprolyl isomerase A FLJ10511 8q12.3 armadillo repeat containing protein CHPPR 8q12.3 likely ortholog of chicken chondrocyte protein with a poly-proline region PDE7A 8q13 phosphodiesterase 7A MGC26226 8q12.3 beta cysteine string protein RNF29 8q12.3 ring finger protein 29 CRH 8q13 corticotropin releasing hormone RRS1 8q12.3 RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) ADHFE1 8q12.3 alcohol dehydrogenase, iron containing, 1 MGC33510 8q12.3 hypothetical protein MGC33510 MYBL1 8q22 v-myb myeloblastosis viral oncogene homolog (avian)-like 1 VCIP135 8q13 valosin-containing protein (p97)/p47 complex-interacting protein p135 FLJ11267 8q13.1 hypothetical protein FLJ11267 PTTG3 8q13.1 hypothetical protein FLJ11267 SGKL 8q12.3-q13.1 serum/glucocorticoid regulated kinase-like FLJ25692 8q13.1 hypothetical protein FLJ25692 LOC392228 8 similar to hypothetical class II basic helix-loop-helix protein LOC286187 8q13.1 similar to RIKEN cDNA 1700011J18
    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