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FLASH GENE
Symbol HBG1 contributors: mct - updated : 25-08-2015
HGNC name hemoglobin, gamma A
HGNC id 4831
Corresponding disease
HPFH hereditary persistence of fetal hemoglobin
Location 11p15.4      Physical location : 5.269.501 - 5.271.087
Synonym name
  • gamma globin
  • gamma A hemoglobin
  • hemoglobin gamma-A chain
  • hemoglobin, gamma, regulator of
    • Synonym symbol(s) HBGA, HBGR, HSGGL1, PRO2979
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text member of the HB-NA cluster (see HB-NA@)
    STRUCTURE 1.59 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    Binding site   silencer
    text structure
  • TATA - CCAAT promoter in fetal life, CACCC box silencing the expression in adult erythropoiesis
  • high level of copy number instability in sperm of older men (Neumann 2010)
    • MAPPING cloned Y linked Y status confirmed
    regionally located 5'-HBE1, HBG2, HBG1, HBD, HBB-3'
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 584 16.1 147 - 1990 1699206
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrineneuroendocrinepituitary  highly
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunespleen   highly
    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, pregnancy
    Text
  • liver, spleen and bone marrow
  • silenced around the time of birth
    • 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
    basic FUNCTION
  • transporting oxygen and carbon dioxide between the lung and tissues
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text oxygen transport
    PATHWAY
    metabolism
    signaling
    GATA1/ZFPM1/NuRD Pathway implicated in expression of HBG1
    a component
  • heterodimer alpha gamma forming a heterotetramer alpha2 gamma2 in the fetal hemoglobin A type
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to alpha chain infetal hemoglobin
  • KLF1 and KLF2 bind directly to the promoters of the HBE1 and HBG1, HBG2 genes
  • BCL11A expression is activated by KLF1, leading to HBG1, HBG2 repression
  • ZBTB7A transcription factor occupies fetal HBG1 genes and maintains the nucleosome density necessary for HBG1 gene silencing in adults
    • cell & other
    REGULATION
    Other regulated by IKAROS (involved in the regulation of human globin gene switching) (Keys 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) HPFH
    related resource A Syllabus of Human Hemoglobin Variants & A Syllabus of Thalassaemia Mutations
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS