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FLASH GENE
Symbol CYB5R4 contributors: mct/npt - updated : 27-10-2011
HGNC name cytochrome b5 reductase 4
HGNC id 20147
Location 6q14.2      Physical location : 84.569.369 - 84.670.144
Synonym name
  • flavohemoprotein b5+b5R
  • NADPH cytochrome B5 oxidoreductase
  • cytochrome b-type NAD(P)H oxidoreductase
  • Synonym symbol(s) b5+b5R, dJ676J13.1, RP4-676J13.1, NCB5OR, cb5/cb5R
    EC.number 1.6.2.2
    DNA
    TYPE functioning gene
    STRUCTURE 100.78 kb     16 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 2259 59 521 - 2010 20630863
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemtestis   
    Urinarybladder   highly
    cell lineage
    cell lines hepatoma
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
  • two N-terminal heme-binding domains
  • a hinge region
  • a CYB5 reductase domain (two FAD binding motifs and three NADPH binding motifs)
  • two redox domains that are homologous to cytochrome b5 and its reductase and a bridging domain that is a member of the CHORD-SGT1 (CS) protein family
  • two helix-loop-helix motifs surrounding heme
  • conjugated FlavoP , HemoP
    HOMOLOGY
    Homologene
    FAMILY
  • flavoprotein pyridine nucleotide cytochrome reductase family
  • cytochrome b(5) family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • cytochrome B5 activity
  • NADPH reductase, playing a critical role in insulin production and in protecting pancreatic beta cells against oxidant stress
  • reductase playing a critical for pancreatic beta-cell survival
  • implicated in lipid metabolism and diabetes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • FAD and NADPH binding
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    increased free fatty acids accumulation and catabolism and oxidative stress are major consequences of its deficiency in liver (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • diabetes and lipoatrophy phenotypes in Ncb5or null mice