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FLASH GENE
Symbol SPTBN1 contributors: mct - updated : 18-08-2012
HGNC name spectrin, beta, non-erythrocytic 1
HGNC id 11275
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal actin-binding domain
  • 12 copies of a 106 residue repeat motif
  • a C terminal region of association with SPTAN1
  • two calponin-homology (CH) domains
  • a PH domain
  • a synapsin I-binding domain
  • 17 homologous repeating units (each about 106 amino acids in length)
  • mono polymer tetramer
    HOMOLOGY
    interspecies ortholog to murine Spnb2
    homolog to C.elegans unc-70
    homolog to drosophila &bgr;-Spec
    Homologene
    FAMILY
  • superfamily of F-actin cross linking proteins
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • crosslinking actin proteins of the membrane-associated cytoskeleton
  • candidate for the calcium-dependent movement of the cytoskeleton at the membrane
  • is involved in the regulation of exocytosis, in particular, the regulation of neurotransmitter release, in which its interaction with small synaptic vesicles via synapsin I plays a crucial role
  • scaffolding protein, functions as a potent TGFbeta signaling member adaptor in tumor suppression and development
  • having a tumor suppressor function, as has already been shown for other malignancies of the gastrointestinal tract
  • participate in the transport of clear and dense-core vesicles along the axon and in their clustering at the plasma membrane site where exocytosis occurs
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of intermediate filament associated protein (IFAP, type III)
  • alpha- and beta-spectrin subunits form antiparallel dimers that self associate to give the spectrin tetramer
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein
  • binding to actin, calmodulin in a calcium-dependent manner, SPTAN1
  • PJA1 and PJA2 interacting with SPTBN1 in a TGF-beta-dependent manner, with a fivefold increase of PJA1 and PJA2 expression and a subsequent decrease in SPTBN1 and SMAD4 expression, in gastrointestinal cancer cell lines
  • direct binding of SPTBN1 to ANK2 is required for the normal targeting of SPTBN1 in neonatal cardiomyocytes, but ANK2 localization and function are independent of SPTBN1
  • SNCA likely modulates neurite outgrowth by interacting with cytoskeletal proteins such as SPTBN1
  • is also known to interact with actin, and rapid actin remodeling is required for cell adhesion and neurite outgrowth
  • cell & other intermediate filament associated (IFAP,type III)
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in pancreatic cancer tissues, and reduced SPTBN1 expression correlated with shorter survival of pancreatic cancer patients
    constitutional        
    epigenetic silencing is a new potential causal factor in human BWS patients
    tumoral fusion      
    to the platelet-derived growth factor receptor beta gene (PDGFRB) in imatinib-responsive atypical myeloproliferative disorders
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • beta2SP(+/-) mice are born with many phenotypic characteristics observed in BWS patients, suggesting that beta2SP mutant mice phenocopy BWS, and beta2SP loss could be one of the mechanisms associated with BWS (Beckwith-Wiedemann syndrome)