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FLASH GENE
Symbol HBE1 contributors: mct - updated : 25-04-2012
HGNC name hemoglobin, epsilon 1
HGNC id 4830
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 816 16.07 147 - 1992 1363870
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticerthrocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • eight helical segments A to H, non helical N and C termini and non helical linkers
    • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • globin family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • transporting oxygen and carbon dioxide between the lung and tissues
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text oxygen transport
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer zeta epsilon, aplha epsilon forming a heterotetramer zeta2 epsilon2 (Gower 1), alpha2 epsilon2 (Gower2)
    • INTERACTION
    DNA
    RNA
    small molecule other,
  • heme ferroporphyrin binding O2 and anchored to distal and proximal histidine of the HbA chain,embedded in the pocket between helices E and F
    • protein
  • zeta chain in hemoglobin Gower 1
  • alpha chain in hemoglobin Gower 2
  • KLF1 and KLF2 bind directly to the promoters of the HBE1 and HBG1, HBG2 genes
    • cell & other
    REGULATION
    Other regulated by IKAROS (involved in the regulation of human globin gene switching) (Keys 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) THBE
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS