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FLASH GENE
Symbol HBA1 contributors: mct/ - updated : 21-12-2005
HGNC name hemoglobin, alpha 1
HGNC id 4823
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticerthrocyte
Blood/Hematopoieticerythroblast
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven helical segments A to H (D missing)
  • 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
    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 aplha beta forming a heterotetramer alpha2 beta2, or alpha2 gamma2 (fetal) or alpha2 epsilon2 (embryonic)
    • 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
  • beta chain in adult hemoglobin, delta chain in minor adult hemoglobin, gamma chain in fetal hemoglobin, epsilon in embryonic hemoglobin
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATHAL
    related resource A Syllabus of Human Hemoglobin Variants & A Syllabus of Thalassaemia Mutations
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS