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FLASH GENE
Symbol HBA1 contributors: mct/ - updated : 21-12-2005
HGNC name hemoglobin, alpha 1
HGNC id 4823
Corresponding disease
ATHAL thalassemia, alpha
Location 16p13.3      Physical location : 226.678 - 227.520
Synonym name
  • alpha-1-globin
  • hemoglobin alpha 1 globin chain
    • Synonym symbol(s) CD31, MGC126895, MGC126897
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text member of the HB-A cluster (see HB-A@)
    STRUCTURE 0.84 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map pter - HBZ - HBZP - HBAP1 - HBAP2 - HBA2 - HBA1 HBA1 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 576 - 142 - -
    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