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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
    Physical map
    OR51A5P 11p15.3 olfactory receptor, family 51, subfamily A, member 5 pseudogene MMP26 11p15 matrix metalloproteinase 26 LOC119682 11p15.4 similar to Olfactory receptor 51L1 OR51P1P 11p15.3 olfactory receptor, family 51, subfamily P, member 1 pseudogene OR52J2P 11p15.3 olfactory receptor, family 52, subfamily J, member 2 pseudogene LOC119679 11p15.4 similar to Olfactory receptor 52J3 LOC119678 11p15.4 similar to Olfactory receptor 52E2 LOC390049 11 similar to Olfactory receptor 52E1 OR52S1P 11p15.3 olfactory receptor, family 52, subfamily S, member 1 pseudogene OR52E3P 11p15.3 olfactory receptor, family 52, subfamily E, member 3 pseudogene OR52J1P 11p15.3 olfactory receptor, family 52, subfamily J, member 1 pseudogene LOC390053 11 similar to olfactory receptor MOR22-1 LOC390054 11 similar to odorant receptor HOR3beta5 OR52A1 11p15.5 olfactory receptor, family 52, subfamily A, member 1 OR51A1P 11p15.5 olfactory receptor, family 51, subfamily A, member 1 pseudogene LOC283110 11p15.4 similar to odorant receptor HOR3beta2 LOC283111 11p15.4 similar to odorant receptor HOR3beta1 HBB 11p15.5 hemoglobin, beta HBD 11p15.5 hemoglobin, delta HBBP1 11p15.5 hemoglobin, beta pseudogene 1 HBG1 11p15.5 hemoglobin, gamma A HBG2 11p15.5 hemoglobin, gamma G HBE1 11p15.5 hemoglobin, epsilon 1 OR51B4 11p15 olfactory receptor, family 51, subfamily B, member 4 LOC390056 11 similar to Olfactory receptor 51B4 (HOR5beta1) OR51B2 11p15 olfactory receptor, family 51, subfamily B, member 2 LOC390057 11 similar to MOR 5beta2 LOC390058 11 similar to HOR5Beta6 LOC390059 11 similar to HOR5Beta7 OR51J1P 11p15.3 olfactory receptor, family 51, subfamily J, member 1 pseudogene LOC390061 11 similar to Olfactory receptor 51Q1 LOC390062 11 similar to olfactory receptor MOR12-1 LOC390063 11 similar to Olfactory receptor 51I1 (HOR5beta11) LOC390064 11 similar to Olfactory receptor 51I2 (HOR5beta12) LOC390065 11 similar to HOR5Beta13
    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