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FLASH GENE
Symbol CYBRD1 contributors: mct - updated : 11-09-2010
HGNC name cytochrome b reductase 1
HGNC id 20797
Location 2q31.1      Physical location : 172.378.865 - 172.414.644
Synonym name
  • duodenal cytochrome b
  • ferric-chelate reductase 3
  • Synonym symbol(s) DCYTB, FLJ23462, FRRS3
    EC.number 1.-.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 35.78 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text three alternative spliced transcripts, according to McKie (see citations)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 4390 31.5 286 - Oakhill (2008)
    3 - 4153 17.8 157 - Oakhill (2008)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestineduodenum specific
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveenterocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six transmembrane domains and four conserved His residues
  • HOMOLOGY
    interspecies homolog to murine Cybrd1
    intraspecies homolog to CYB561
    Homologene
    FAMILY
  • cytochrome b561 family of plasma membrane reductase
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    text localized principally in the apical membrane of the enterocyte (Latunde-Dada 2008)
    basic FUNCTION
  • responsible for the iron-regulated ferric reductase activity observed in the duodenum
  • plays a physiological role in both iron and copper uptake, through divalent metal transporter 1 (SLC11A2) and copper transporter 1, respectively (Wyman 2008)
  • act as a ferric reductase that furnishes Fe(II), the specific and selective iron species transported by divalent metal transporter 1 (SLC11A2) in the duodenal enterocytes (Latunde-Dada 2008)
  • can act as a ferric reductase that stimulates iron uptake in Caco-2 cells (Latunde-Dada 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism metal
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Fe3+
  • protein
    cell & other
    REGULATION
    induced by HIF-signaling (Hypoxia-inducible factor (HIF) signaling was induced in the intestine following acute iron deficiency in the duodenum, resulting in activation of CYBRD1 and SLC11A2 expression and an increase in iron uptake) (Shah 2009)
    Other up-regulated by chronic anemia, iron deficiency, hypoxia
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism SNP SNP rs884409 in CYBRD1 is a novel modifier specific to HFE C282Y homozygotes (Constantine 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS