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FLASH GENE
Symbol SNTB1 contributors: mct - updated : 18-09-2018
HGNC name syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
HGNC id 11168
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two pleckstrin homology (PH) domains
  • a PDZ (PSD95/disc large/ZO1) domain, embedded in the first PH domain,basic,nine potential phosphorylation sites
  • SU (syntrophin unique) domain
    • HOMOLOGY
    interspecies ortholog to murine Sntb1
    Homologene
    FAMILY syntrophin gene family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • involved in clustering of acetylcholine receptors
  • peripheral membrane adapter protein associated with
    • organization of subcellular localization of several membrane
    proteins
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Ca2+
    protein
  • ADRA1D-a key regulator of cardiovascular, urinary and CNS function-binds the syntrophin family of PDZ domain proteins (SNTA, SNTB1, and SNTB2) through a C-terminal PDZ ligand interaction, ensuring receptor plasma membrane localization and G-protein coupling
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    expressed in B-chronic lymphocytic leukemia (B-CLL) cells
    Susceptibility to oral cancer
    Variant & Polymorphism SNP
  • SNPs rs10090787, rs12679182 associated with increased/decreased risk to oral cancer
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS