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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
RNA
TRANSCRIPTS type messenger
text at least five distinct transcripts (Ahn)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - - 5900 - - - 1996 8576247
7 - 4975 - 538 - 1996 8576247
- - - 4300 - - - 1996 8576247
- - - 3100 - - - 1996 8576247
- - - 1500 - - - 1996 8576247
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
 vessel    
Digestiveintestinelarge intestinecolon highly
 liver   highly
Urinarykidney    
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/ImmuneB cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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