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FLASH GENE
Symbol HBE1 contributors: mct - updated : 25-04-2012
HGNC name hemoglobin, epsilon 1
HGNC id 4830
Corresponding disease
THBE thalassemia, with hemoglobin E
Location 11p15.4      Physical location : 5.289.579 - 5.291.373
Synonym symbol(s) HBE
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text member of the HB-NA cluster (see HB-NA@)
STRUCTURE 1.79 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map see HB-NA@
Authors Keys (2008)
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 - 816 16.07 147 - 1992 1363870
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticerthrocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
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,cytosolic
    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 zeta epsilon, aplha epsilon forming a heterotetramer zeta2 epsilon2 (Gower 1), alpha2 epsilon2 (Gower2)
  • 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
  • zeta chain in hemoglobin Gower 1
  • alpha chain in hemoglobin Gower 2
  • KLF1 and KLF2 bind directly to the promoters of the HBE1 and HBG1, HBG2 genes
  • cell & other
    REGULATION
    Other regulated by IKAROS (involved in the regulation of human globin gene switching) (Keys 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) THBE
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS