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FLASH GENE
Symbol SNTA1 contributors: mct - updated : 25-01-2016
HGNC name syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)
HGNC id 11167
Corresponding disease
LQT12 long QT syndrome 12
Location 20q11.21      Physical location : 31.995.762 - 32.031.698
Synonym name
  • acidic alpha 1 syntrophin
  • dystrophin-associated protein A1, 59kD, acidic component
  • pro-TGF-alpha cytoplasmic domain-interacting protein 1
  • Synonym symbol(s) DAPA1A, SNT1, TACIP1, SNA1, dJ1187J4.5, LQT12
    DNA
    TYPE functioning gene
    STRUCTURE 35.94 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    BPIL1 20q11.21 bactericidal/permeability-increasing protein-like 1 BPIL3 20q11.22 bactericidal/permeability-increasing protein-like 3 LOC391242 20 similar to DNA segment, numerous copies, expressed probes (GS1 gene) C20orf185 20q11.21 chromosome 20 open reading frame 185 C20orf186 20q11.21 chromosome 20 open reading frame 186 C20orf70 20q11.21 chromosome 20 open reading frame 70 SOCS2P1 20 suppressor of cytokine signaling 2 pseudogene 1 BASE 20q11.21 suppressor of cytokine signaling 2 pseudogene 1 C20orf71 20q11.22 chromosome 20 open reading frame 71 PLUNC 20p11.1-q12 palate, lung and nasal epithelium carcinoma associated RPL12P3 20q11.21 ribosomal protein L12 pseudogene 3 C20orf114 20q11.23 chromosome 20 open reading frame 114 CDK5RAP1 20pter-q11.23 CDK5 regulatory subunit associated protein 1 SNTA1 20q11.2 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) CBFA2T2 20q11.21-q11.23 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 APBA2BP 20q11.21 amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein C20orf144 20q11.21 chromosome 20 open reading frame 144 E2F1 20q11 E2F transcription factor 1 PXMP4 20q11.21 peroxisomal membrane protein 4, 24kDa ZNF341 20q11.21 zinc finger protein 341 RPL31P2 20q11.2 ribosomal protein L31 pseudogene 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2345 - 505 - 2006 16533813
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two pleckstrin homology (ph) domains
  • one PDZ (PSD95/dic large/ZO1) domain, embedded in the first PH domain acidic
  • a syntrophin unique (SU) domain
  • PH1 and PDZ domains work in concert to facilitate the localization of ACHR and NOS1 at the neuromuscular junction
  • HOMOLOGY
    interspecies homolog to murine Snta1
    Homologene
    FAMILY
  • syntrophin gene family
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text
  • resides in nuclei of myocytes
  • basic FUNCTION
  • adapter protein playing an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse
  • playing an important role in maintaining receptor stability by directly interacting with the receptor PDZ-interacting motif
  • central organizer of the astrocyte dystrophin complex, an important molecular scaffold for localization of aquaporin-4 at the blood-brain barrier
  • actin-binding protein the subcellular localization of which is regulated through cytoskeletal reorganization
  • scaffolding protein linking signaling proteins to the sarcolemmal dystrophin complex(
  • adaptor protein that link intracellular signaling molecules to the dystrophin based scaffold
  • is required for HGF-induced migration of myoblasts and for proper PI3-kinase/AKT signaling
  • SNTA1 which resides in nuclei of myocytes, functions as the upstream mediator of nuclear NOS1 translocation and NOS1-dependent mitochondrial biogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • member of the dystrophin-associated protein complex
  • SNTA1-based NOS1 complex attached to SCN5A is a key regulator of sodium current
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • protein binding to nitric oxide synthase
  • GLS2
  • interaction with PMCA1 and PMCA4
  • links neuronal nitric oxide synthase (NOS1) to the NOS1 inhibitor plasma membrane Ca-ATPase subtype 4b (ATP2B4b)
  • associate with the cardiac sodium channel SCN5A
  • SNTA1 associates with MLL5, a regulator of MYOG expression
  • MYOC interacts with SNTA1, a cytoplasmic component of the DAPC, that serves as a scaffolding adapter
  • MAP1A and MAP1B interact with SNTA1 in the central and peripheral nervous system
  • SNTA1 and SNTB2 are molecular adaptor proteins shown to stabilize ABCA1, an essential regulator of HDL cholesterol
  • ADRA1D-a key regulator of cardiovascular, urinary and CNS function-binds the syntrophin family of PDZ domain proteins (SNTA1, 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) LQT12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    might be responsible in part for the muscle hypertrophy, abnormal synapse formation at neuromuscular junctions , and typically observed in the early stages of Duchenne muscular dystrophy patients
    Susceptibility
  • to long QT syndrome (LQT)
  • to oral cancer
  • Variant & Polymorphism SNP
  • A390V mutation increasing the risk of LQT
  • Candidate gene
    Marker
  • could possibly be used as a novel diagnostic or prognostic marker in esophageal and breast cancers
  • Therapy target
    ANIMAL & CELL MODELS