Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CYB5R3 contributors: mct - updated : 17-05-2010
HGNC name cytochrome b5 reductase 3
HGNC id 2873
Corresponding disease
CYB5R3D methemoglobinemia, with CYB5R3 deficiency
Location 22q13.2      Physical location : 43.013.846 - 43.045.405
Synonym name
  • diaphorase-1
  • diaphorase (NADH) (cytochrome b-5 reductase)
  • NADH-cytochrome b5 reductase 3 membrane-bound form
  • Synonym symbol(s) DIA1, B5R
    EC.number 1.6.2.2
    DNA
    TYPE functioning gene
    STRUCTURE 30.59 kb     10 Exon(s)
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 2923 34 301 - 1992 1400360
  • also called DIA1-Vm
  • membrane bound
  • coding exon 1 M
  • 9 splicing 2922 - 278 late stage of erytroid maturation 1992 1400360
  • also called DIA1-Vs
  • soluble isoform non-coding exon 1S
  • 9 - 3167 - 278 - 1992 1400360
    9 - 3063 - 334 - 1992 1400360
    10 - 2983 - 278 - 1992 1400360
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine  predominantly
     liver   highly
    Nervousnervecranial nerve  highly
    Reproductivefemale systemuteruscervix  
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Cyb5r3
    ortholog to rattus Dia1
    Homologene
    FAMILY
  • flavoprotein pyridine nucleotide cytochrome reductase family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    text membrane-associated form (34kDa)
    basic FUNCTION
  • desaturation and elongation of fatty acids
  • drug metabolism
  • methemoglobin reduction (erythrocyte form)
  • influences the NAD(+)/NADH ratio and may play a regulatory role that connects aerobic metabolism with aging
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    text iron
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling
    hemoglobin metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADH
  • protein
  • cytochrome b5
  • SCAI is a novel transcriptional cofactor that controls gene expression downstream of CYB5R3 to dictate changes in cell invasive behaviour
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CYB5R3D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS