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FLASH GENE
Symbol CYP11B1 contributors: mct/npt - updated : 02-06-2010
HGNC name cytochrome P450, family 11, subfamily B, polypeptide 1
HGNC id 2591
Corresponding disease
CYP11B1 adrenal hyperplasia IV with hypertension (11 beta-hydroxylase deficiency)
GSH glucocorticoid remediable aldosteronism
Location 8q21      Physical location : 143.953.773 - 143.961.236
Synonym name
  • steroid 11-beta-monooxygenase polypeptide 1
  • cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1
  • cytochrome p450 XIB1
  • Synonym symbol(s) FHI, CPN1, P450C11, CYP11B, FLJ36771, DKFZp686B05283, CYPXIB1, S11BH
    EC.number 1.14.15.4
    DNA
    TYPE functioning gene
    STRUCTURE 7.46 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    Binding site   cAMP
    motif repetitive sequence
    text structure binding sites for AP1
    MAPPING cloned Y linked N status confirmed
    Physical map
    BAI1 8q24 brain-specific angiogenesis inhibitor 1 ARC 8q24.3 activity-regulated cytoskeleton-associated protein JRK 8q24.3 jerky homolog (mouse) PSCA 8q24.2 prostate stem cell antigen HSJ001348 8q24.3 cDNA for differentially expressed CO16 gene LOC51337 8q24.3 mesenchymal stem cell protein DSCD75 ARS LOC137797 8q24.3 similar to RGTR430 LYNX1 8q24.3 similar to RGTR430 E48 GML 8q24.3 GPI anchored molecule like protein CYP11B1 8q21 cytochrome P450, family 11, subfamily B, polypeptide 1 CYP11B2 8q24.3 cytochrome P450, family 11, subfamily B, polypeptide 2 LY6E 8q24.3 lymphocyte antigen 6 complex, locus E FLJ37131 8q24.3 hypothetical protein FLJ37131 HHCM 8q24.3 Mahlavu hepatocellular carcinoma LY6H 8q24.3 lymphocyte antigen 6 complex, locus H LOC338328 8q24.3 high density lipoprotein-binding protein FLJ38705 8q24.3 hypothetical protein FLJ38705 GLI4 8q24.3 GLI-Kruppel family member GLI4 FLJ14129 8q24.3 hypothetical protein FLJ14129 LOC389691 8 LOC389691 TOP1MT 8q24.3 LOC389691 MGC3113 8q24 hypothetical protein MGC3113 RHPN1 8q24.3 rhophilin, Rho GTPase binding protein 1 LOC389692 KIAA0150 8q24.3 rhophilin, Rho GTPase binding protein 1 LOC389693 8 LOC389693 FLJ12150 8q24.3 hypothetical protein FLJ12150
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3551 57 503 - Barr (2007)
    8 - 3353 49 437 - Barr (2007)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal glandcortex   
    Reproductivefemale systembreastmammary gland  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal 24 AA mitochondrial signal sequence
  • conjugated HemoP
    mono polymer monomer
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to bovine p-450 11 beta
    intraspecies homolog to CYP11B2
    Homologene
    FAMILY
  • cytochrome P450 subfamily XIB
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • involved in glucocorticoid biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism hormone
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH, heme
  • protein
  • flavoprotein P450 oxidoreductase (POR)
  • cell & other
    REGULATION
    Other regulated by cyclic AMP (cAMP)-dependent signaling
    ASSOCIATED DISORDERS
    corresponding disease(s) CYP11B1 , GSH
    Susceptibility to aldosterone-producing adenoma (APA)
    Variant & Polymorphism other
  • -344 C/T and intron 2 conversion associated with markers of impaired 11beta-hydroxylase activity
  • rs6410 most frequent in patients with aldosterone-producing adenoma (APA) (Zhang 2010)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS