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FLASH GENE
Symbol SPTB contributors: - updated : 10-04-2007
HGNC name spectrin, beta, erythrocytic (includes spherocytosis, clinical type I)
HGNC id 11274
Corresponding disease
EL3 hereditary elliptocytosis, 3
SPH2 hereditary spherocytosis, type I
Location 14q22-q23.2      Physical location : 65.213.001 - 65.289.866
Synonym symbol(s) SPCB, HSpTB1
DNA
TYPE functioning gene
STRUCTURE 76.00 kb     35 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 10064 267 2328 - -
- splicing 6695 246 2137 - -
  • differring in the 3' UTR and coding region compared to variant 1
  • EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
     pancreas exocrine   moderately
    Lymphoid/Immunespleen   predominantly
    Reproductivemale systemprostate  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal actin/EPB41 binding domain, and region (residues 1-301) with two calponin homology domains, designated CH1 and CH2, binding EPB41
  • 17 copies of a 106 residue repeat motif spectrin repeats with an ankyrin binding site on repeat 15
  • a C terminal region of association with SPTA
  • mono polymer heteromer , dimer , tetramer , polymer
    HOMOLOGY
    interspecies ortholog to murine Spnb1
    Homologene
    FAMILY spectrin family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION playing a role in the maintenance of the biconcave shape of erythrocytes, in the regulation of plasma membrane
    components and in the maintenance of the lipid asymmetry of the plasma membrane
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of intermediate filament associated protein (IFAP,type III)
  • components of the core structure of the membrane skeleton
  • composed of nonhomologous chains, alpha and beta, which aggregate to form dimers, tetramers, and higher polymers (dimerizing and heteropolymerizing)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • intermediate filament (IFAP, type III)
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPH2 , EL3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS