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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)
    Physical map
    MGC46424 9q34.13 hypothetical protein MGC46424 LOC389790 9 similar to phosphatidylinositol phosphate kinase-like protein DPM2 9q34.13 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit FLJ10232 9q34.13 hypothetical protein FLJ10232 DKFZp762G199 9q34.13 hypothetical protein DKFZp762G199 MCSC 9q34.13 mitochondrial Ca2+-dependent solute carrier PTGES2 9q34.13 prostaglandin E synthase 2 LOC389791 9 hypothetical gene supported by AK094537 LCN2 9q34 lipocalin 2 (oncogene 24p3) C9orf16 9q34.1 chromosome 9 open reading frame 16 CIZ1 9q34.13 chromosome 9 open reading frame 16 DNM1 9q34 dynamin 1 GOLGA2 9q34.13 golgi autoantigen, golgin subfamily a, 2 LOC375757 9q34.13 hypothetical protein LOC375757 FLJ21673 9q34.13 hypothetical protein FLJ21673 CLONE24922 COQ4 9q34.13 coenzyme Q4 homolog (yeast) TMSL4 9 thymosin-like 4 SLC27A4 9q34.13 solute carrier family 27 (fatty acid transporter), member 4 C9orf74 9q34.13 chromosome 9 open reading frame 74 CEECAM1 9q34.13 cerebral endothelial cell adhesion molecule 1 LOC392394 9 similar to hypothetical protein ODF2 9q34 outer dense fiber of sperm tails 2 GLE1L 9q34.13 GLE1 RNA export mediator-like (yeast) SPTAN1 9q34.13 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) MGC20486 9q34.13 hypothetical protein MGC20486 SET 9q34 SET translocation (myeloid leukemia-associated) pknbeta 9q34.13 protein kinase PKNbeta ZDHHC12 9q34.2 zinc finger, DHHC domain containing 12 C9orf60 9q34.13 chromosome 9 open reading frame 60 TBC1D13 9q34.13 TBC1 domain family, member 13 ENDOG 9q34.1 endonuclease G HSPC109 9q34.13 hypothetical protein HSPC109 CCBL1 9q34.1 cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) LRRC8 9q34.2 leucine rich repeat containing 8 PHYHD1 9q34.13 phytanoyl-CoA dioxygenase domain containing 1 TMEM15 9q34.13 transmembrane protein 15 KIAA0169 9q34.13 transmembrane protein 15 SH3GLB2 9q34 SH3-domain GRB2-like endophilin B2
    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