Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SPTAN1 contributors: mct/npt - updated : 05-01-2015
HGNC name spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)
HGNC id 11273
Corresponding disease
EIEE5 epileptic encephalopathy, early infantile, 5
Location 9q34.11      Physical location : 131.314.865 - 131.395.938
Synonym name
  • alpha-II spectrin
  • fodrin alpha chain
  • Synonym symbol(s) FOD, NEAS, SPTA2, SPCN, (ALPHA)II-SPECTRIN, FLJ44613
    DNA
    TYPE functioning gene
    STRUCTURE 81.11 kb     57 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D9S282 - D9S60 - D9S315 - AK1 AK1 /ENG - SPTAN1 - D9S61 - D9S290 - qter
    Authors Shovlin (94)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    57 - 7924 - 2477 - Lefferts (2009)
    56 - 7909 - 2472 - -
    55 - 7832 - 2452 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
     thymus   highly
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal actin-binding site
  • 23 copies of a 106 AAs repeat motif
  • a calmodulin binding site
  • a pleckstrin (PH) homology domain
  • three EF hand calcium binding domain
  • two particular spectrin repeats in its central region, alpha9 and alpha10, which host an Src homology 3 domain, a tissue-specific spliced sequence of 20 AAs, a calmodulin-binding site and major cleavage sites for caspases and calpains (Rotter 2005)
  • a C terminus domain of association with SPTBN1
  • HOMOLOGY
    interspecies homolog to murine Spna2
    Homologene
    FAMILY
  • spectrin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • may be crosslinking actin proteins of the membrane-associated cytoskeleton
  • plays a role in the repair of DNA interstrand cross-links and is deficient in cells from patients with Fanconi anemia (FA), in which there is a defect in ability to repair such cross-links (Lefferts 2009)
  • involved in DNA repair (Sridharan 2006)
  • may play a role in a number of diverse and important processes in the nucleus (Sridharan 2006)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of intermediate filament associated protein (IFAP,type III)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interactiung with FANCG (site of interaction in FANCG was mapped to a motif that binds to SH3 domains and contains a consensus sequence with preference for the SH3 domain of SPTAN1)(Lefferts 2009)
  • interactions between SPTAN1, TES and EVL indicate new functions for spectrin in actin dynamics and focal adhesions (Rotter 2005)
  • cell & other
  • intermediate filament associated (IFAP,type III)
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE5
    Susceptibility
    Variant & Polymorphism
    Candidate gene autoantigen in primary immune Sjögren syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS