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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
    Physical map
    LOC390662 16 similar to DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11; DEAD/H box-11 (CHL1-related helicase gene-1); yeast CHL1 homolog CXYorf1P 16p13.3 pseudogene of CXYorf1 POLR3K 16p13.3 polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa C16orf33 16p13.3 chromosome 16 open reading frame 33 RHBDF1 16p13.3 rhomboid family 1 (Drosophila) MPG 16p13.3 N-methylpurine-DNA glycosylase C16orf35 16p13.3 chromosome 16 open reading frame 35 HBZ 16p13.3 hemoglobin, zeta HBZP 16p13.3 hemoglobin, zeta pseudogene HBAP2 16p13.3 hemoglobin, alpha pseudogene 2 HBAP1 16p13.3 hemoglobin, alpha pseudogene 1 HBA2 16p13.3 hemoglobin, alpha 2 HBA1 16p13.3 hemoglobin, alpha 1 HBQ1 16p13.3 hemoglobin, theta 1 LUC7L 16p13.3 LUC7-like (S. cerevisiae) DKFZP761D0211 16p13.3 hypothetical protein DKFZp761D0211 PDIP 16p13.3 protein disulfide isomerase, pancreatic RGS11 16p13.3 regulator of G-protein signalling 11 ARHGDIG 16p13.3 Rho GDP dissociation inhibitor (GDI) gamma AXIN1 16p13.3 axin 1 MRPL28 16p13.3 mitochondrial ribosomal protein L28 TMEM8 16p13.3 transmembrane protein 8 (five membrane-spanning domains) LOC388197 16 hypothetical gene supported by BC028568 NME4 16p13 non-metastatic cells 4, protein expressed in DECR2 16p13.3 2,4-dienoyl CoA reductase 2, peroxisomal
    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