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FLASH GENE
Symbol SPTA1 contributors: mct - updated : 29-04-2015
HGNC name spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
HGNC id 11272
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal self association site, and functional roles of AAs 21-43 and 55-59 in the N-terminal region in forming tetramers were determined by the introduction of mutations at each of these positions
  • 22 copies of a 106 AAs repeat motif (spectrin repeats)
  • an atypical 10 repeat containing a SH3 domain
  • two C terminal EF-hand calcium-binding domains, calmodulin-like, with calcium-dependent and calcium-independent EF hands, that likely may bind to the linker that connects the actin-binding domain (ABD) to the first spectrin repeat
    • mono polymer heteromer , dimer , polymer
    HOMOLOGY
    interspecies ortholog to murine Spna1
    homolog to C.elegans C50C3.2 and K10B3.10
    Homologene
    FAMILY
  • spectrin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane
  • associating with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of intermediate filament associated protein (IFAP, type III), dimerizing and heteropolymerizing, components of the core structure of the membrane skeleton
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • binding to actin
  • TAF3 is required for transcription of the SPTA1 gene, encoding alpha spectrin, one of the proteins that link the plasma membrane to the actin cytoskeleton
    • cell & other
  • binding to intermediate filament (IFAP,type III)
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EL2 , HPP , SPH3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS