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    SNTA1 syntrophin alpha 1 [ Homo sapiens (human) ]

    Gene ID: 6640, updated on 2-Oct-2018

    Summary

    Official Symbol
    SNTA1provided by HGNC
    Official Full Name
    syntrophin alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:11167
    See related
    Ensembl:ENSG00000101400 MIM:601017; Vega:OTTHUMG00000032259
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SNT1; LQT12; TACIP1; dJ1187J4.5
    Summary
    Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]
    Expression
    Broad expression in heart (RPKM 50.7), thyroid (RPKM 41.8) and 19 other tissues See more
    Orthologs

    Genomic context

    See SNTA1 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (33407957..33443892, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31995763..32031698, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene BPI fold containing family B member 9, pseudogene Neighboring gene CDK5 regulatory subunit associated protein 1 Neighboring gene VISTA enhancer hs2173 Neighboring gene CBFA2/RUNX1 translocation partner 2 Neighboring gene chromosome 20 open reading frame 144 Neighboring gene N-terminal EF-hand calcium binding protein 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Yeast two hybrid assay identifies the HIV-1 Nef-interacting protein syntrophin PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nitric-oxide synthase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to sodium channel regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    dystrophin-associated glycoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with lateral plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    syntrophin complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    alpha-1-syntrophin
    Names
    59 kDa dystrophin-associated protein A1 acidic component 1
    acidic alpha 1 syntrophin
    dystrophin-associated protein A1, 59kDa, acidic component
    pro-TGF-alpha cytoplasmic domain-interacting protein 1
    syntrophin-1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011622.1 RefSeqGene

      Range
      5001..40936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_332

    mRNA and Protein(s)

    1. NM_003098.2NP_003089.1  alpha-1-syntrophin

      See identical proteins and their annotated locations for NP_003089.1

      Status: REVIEWED

      Source sequence(s)
      AU118614, U40571
      Consensus CDS
      CCDS13220.1
      UniProtKB/Swiss-Prot
      Q13424
      Related
      ENSP00000217381.2, OTTHUMP00000030650, ENST00000217381.2, OTTHUMT00000078704
      Conserved Domains (4) summary
      smart00233
      Location:298401
      PH; Pleckstrin homology domain
      cd00992
      Location:86167
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01258
      Location:209270
      PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
      pfam00169
      Location:298401
      PH; PH domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

      Range
      33407957..33443892 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260517.1XP_005260574.1  alpha-1-syntrophin isoform X1

      Conserved Domains (4) summary
      smart00233
      Location:298401
      PH; Pleckstrin homology domain
      cd00992
      Location:86167
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01258
      Location:209270
      PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
      pfam00169
      Location:298401
      PH; PH domain
    2. XM_011529008.1XP_011527310.1  alpha-1-syntrophin isoform X3

      Conserved Domains (4) summary
      smart00233
      Location:298401
      PH; Pleckstrin homology domain
      cd00992
      Location:86167
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01258
      Location:209270
      PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
      pfam00169
      Location:298401
      PH; PH domain
    3. XM_011529007.1XP_011527309.1  alpha-1-syntrophin isoform X2

      Conserved Domains (4) summary
      smart00233
      Location:298401
      PH; Pleckstrin homology domain
      cd00992
      Location:86167
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01258
      Location:209270
      PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
      pfam00169
      Location:298401
      PH; PH domain
    4. XM_024451971.1XP_024307739.1  alpha-1-syntrophin isoform X4

      Conserved Domains (3) summary
      cd00992
      Location:158
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01258
      Location:100161
      PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
      pfam00169
      Location:189292
      PH; PH domain
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