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FLASH GENE
Symbol AHSP contributors: mct/pgu - updated : 01-09-2010
HGNC name alpha hemoglobin stabilising protein
HGNC id 18075
Location 16p11.2      Physical location : 31.539.202 - 31.540.123
Synonym name
  • erythroid differentiation associated factor
  • erythroid associated factor
  • Synonym symbol(s) ERAF, EDRF
    DNA
    TYPE functioning gene
    STRUCTURE 0.95 kb     3 Exon(s)
    regulatory sequence Promoter
    Binding site   HRE
    text structure at 3prime UTR, mRNA contains a nucleotide sequence resembling iron responsive elements (IREs), stem-loop structures that regulate gene expression post-transcriptionally by binding iron regulatory proteins
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 splicing 518 11.8 102 - 2007 17194704
    EXPRESSION
    Rna function ASHP mRNA expression in the placenta (decreased in complicated pregnancies, and it may be involved in the pathogenic mechanisms leading to the adverse pregnancy outcome)
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Lymphoid/Immunespleen    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text fetal liver, spleen
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • AHSP family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • abundant, erythroid-specific protein that forms a stable complex with free alpha-haemoglobin but not with beta-haemoglobin or haemoglobin A (alpha(2)beta(2))
  • required for normal erythropoiesis, probably acting to block the deleterious effects of free alpha-haemoglobin precipitation
  • acts as a molecular chaperone to stabilize nascent alpha-globin for HbA assembly
  • potential modifier of beta-thalassemia by virtue of its ability to detoxify excess free alpha-globin
  • inhibits cellular production of the reactive oxygen species
  • reversibly binds nascent alpha globin to maintain its native structure and facilitate its incorporation into hemoglobin A
  • promotes alpha globin chain stability during human erythropoiesis
  • may function as an alpha globin -specific chaperone, and suggest an important role for nascent alpha chain in guiding Hb assembly by stabilizing nascent beta chain and inhibiting off-pathway self-association of beta-haem
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming an heterodimer with free alpha-hemoglobin
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds specifically to alpha-hemoglobin (alpha-Hb) subunits acting as a chaperone protein
  • cell & other
    REGULATION
    Other regulated by iron (iron regulates the expression of AHSP, a molecular chaperone that binds and stabilizes free alpha-globin during hemoglobin synthesis)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the HELLP syndrome group
    constitutional     --low  
    in the intrauterine fetal death group compared with controls
    constitutional     --low  
    reduced AHSP may identify women at risk of experiencing further miscarriages
    constitutional     --low  
    can result in hematological pathology
    Susceptibility
    Variant & Polymorphism SNP 12391 G>A SNP is common and represents a potential mechanism through which genetically determined variations in AHSP expression could influence beta-thalassemia
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS