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SNTA1 Gene

protein-coding   GIFtS: 64
GCID: GC20M031995

Syntrophin, Alpha 1

(Previous names: syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD,...)
(Previous symbol: SNT1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Syntrophin, Alpha 11 2     Syntrophin, Alpha 1 (Dystrophin-Associated Protein A1, 59kD, Acidic
Component)1
SNT11 2 3 5     Acidic Alpha 1 Syntrophin2
Pro-TGF-Alpha Cytoplasmic Domain-Interacting Protein 11 2 3     alpha-1-syntrophin2
59 KDa Dystrophin-Associated Protein A1 Acidic Component 12 3     dJ1187J4.52
TACIP12 3     Dystrophin-Associated Protein A1, 59kDa, Acidic Component2
LQT122 5     Syntrophin, Alpha 1 (Dystrophin-Associated Protein A1, 59kDa, Acidic
Component)2
59kDa1     syntrophin-12
Acidic Component1     Syntrophin-13
Dystrophin-Associated Protein A11     

External Ids:    HGNC: 111671   Entrez Gene: 66402   Ensembl: ENSG000001014007   OMIM: 6010175   UniProtKB: Q134243   

Export aliases for SNTA1 gene to outside databases

Previous GC identifers: GC20M031754 GC20M032664 GC20M032711 GC20M031459 GC20M028783


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SNTA1 Gene:
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)

GeneCards Summary for SNTA1 Gene:
SNTA1 (syntrophin, alpha 1) is a protein-coding gene. Diseases associated with SNTA1 include long qt syndrome 12, and long qt syndrome 1. GO annotations related to this gene include phospholipid binding and calmodulin binding. An important paralog of this gene is SNTB1.

UniProtKB/Swiss-Prot: SNTA1_HUMAN, Q13424
Function: Adapter protein that binds to and probably organizes the subcellular localization of a variety of
membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the
dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and
acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By
similarity)

Gene Wiki entry for SNTA1 (Syntrophin, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SNTA1 gene promoter:
         NF-1   NRSF form 1   NF-E2 p45   NRSF form 2   Max   N-Myc   ZID   NF-E2   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNTA1 promoter sequence
   Search Chromatin IP Primers for SNTA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNTA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.2   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.2

SNTA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNTA1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M031995:  view genomic region     (about GC identifiers)

Start:
31,995,761 bp from pter      End:
32,031,698 bp from pter
Size:
35,938 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SNTA1_HUMAN, Q13424 (See protein sequence)
Recommended Name: Alpha-1-syntrophin  
Size: 505 amino acids; 53895 Da
Subunit: Monomer and homodimer. Interacts with the other members of the syntrophin family SNTB1 and SNTB2; SGCG
and SGCA of the dystrophin glycoprotein complex; NOS1; GRB2; the sodium channel proteins SCN4A and SCN5A; F-actin
and calmodulin (By similarity). Interacts with dystrophin protein DMD and related proteins DTNA and UTRN and with
MAPK12, TGFA and GA
Secondary accessions: A8K7H9 E1P5N1 Q16438

Explore the universe of human proteins at neXtProt for SNTA1: NX_Q13424

Explore proteomics data for SNTA1 at MOPED

Post-translational modifications: 

  • Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SNTA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003089.1  
    ENSEMBL proteins: 
     ENSP00000217381  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR015482 Syntrophin
     IPR001478 PDZ
     IPR028552 SNTA1
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q13424

    ProtoNet protein and cluster: Q13424

    2 Blocks protein domains:
    IPB001478 PDZ/DHR/GLGF domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: SNTA1_HUMAN, Q13424
    Domain: The PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the
    phosphatidylinositol 4,5-bisphosphate (By similarity)
    Domain: The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The
    association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to
    the membrane (By similarity)
    Domain: The SU domain binds calmodulin in a calcium-dependent manner (By similarity)
    Similarity: Belongs to the syntrophin family
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 2 PH domains
    Similarity: Contains 1 SU (syntrophin unique) domain


    SNTA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNTA1_HUMAN, Q13424
    Function: Adapter protein that binds to and probably organizes the subcellular localization of a variety of
    membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the
    dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and
    acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By
    similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI10212242
    GO:0005516calmodulin binding IEA--
    GO:0017080contributes to sodium channel regulator activity IMP18591664
    GO:0030165PDZ domain binding IEA--
         
    SNTA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SNTA1:
     Synthetic lethal with imatinib 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Snta1):
     behavior/neurological  homeostasis/metabolism  muscle  nervous system 

    SNTA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SNTA1: Snta1tm1Stk Snta1tm1Scf

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    miRTarBase miRNAs that target SNTA1:
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    hsa-miR-3173-3p hsa-miR-3669 hsa-miR-513a-5p hsa-miR-4287 hsa-miR-877* hsa-miR-135b hsa-miR-124 hsa-miR-4279
    SwitchGear 3'UTR luciferase reporter plasmidSNTA1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SNTA1_HUMAN, Q13424: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side (By similarity).
    Cell junction (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In skeletal muscle, it localizes at
    the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    cytosol2
    mitochondrion2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA17628813
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0016013syntrophin complex TAS--
    GO:0016328colocalizes with lateral plasma membrane TAS--

    SNTA1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SNTA1 About    
    See pathways by source

    SuperPathContained pathways About
    1NGF Pathway
    TRKA Signaling0.75
    NGF Pathway0.75
    2DREAM Repression and Dynorphin Expression
    nNOS Signaling in Skeletal Muscle0.37
    3Signaling mediated by p38-gamma and p38-delta
    Signaling mediated by p38-gamma and p38-delta
    4SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    5Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    Muscular Dystrophies and Dystrophin-Glycoprotein Complex

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SNTA1
        Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    NGF Pathway
    nNOS Signaling in Skeletal Muscle
    TRKA Signaling

    2 BioSystems Pathways for SNTA1
        SIDS Susceptibility Pathways
    Signaling mediated by p38-gamma and p38-delta


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SNTA1
    Interactions:

        GeneGlobe Interaction Network for SNTA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SNTA1 (Q134241, 2, 3 ENSP000002173814) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK12P537782, 3, ENSP000002156594MINT-59511 I2D: score=3 STRING: ENSP00000215659
    XRCC6P129562, 3MINT-64134 I2D: score=5 
    MED8Q96G252, 3MINT-64135 I2D: score=4 
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002027regulation of heart rate IMP18591664
    GO:0003117regulation of vasoconstriction by circulating norepinephrine IEA--
    GO:0006936muscle contraction TAS8576247
    GO:0007528neuromuscular junction development IEA--
    GO:0060307regulation of ventricular cardiac muscle cell membrane repolarization IMP18591664

    SNTA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SNTA1

    2 HMDB Compounds for SNTA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    SodiumSodium (see all 2)7440-23-5--

    1 Novoseek inferred chemical compound relationship for SNTA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitric oxide 31.5 1 9536265 (1)



    SNTA1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SNTA1 gene: 
    NM_003098.2  

    Unigene Cluster for SNTA1:

    Syntrophin, alpha 1
    Hs.31121  [show with all ESTs]
    Unigene Representative Sequence: NM_003098
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000217381(uc002wzd.1 uc010zuf.1)
    miRNA
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    Additional mRNA sequence: 

    AK095942.1 AK291994.1 AK301800.1 BC026215.2 BC113813.1 S81737.1 U40571.1 

    10 DOTS entries:

    DT.447299  DT.100670261  DT.100023111  DT.100779916  DT.98131732  DT.120807643  DT.95094050  DT.100844603 
    DT.92439224  DT.95094024 

    Selected AceView cDNA sequences (see all 219):

    AI692163 U40571 AW205543 CD514526 BM708591 AI972490 BX345868 F25005 
    BU730935 BM547446 BQ772114 CF456427 BU634073 CR593272 BE562959 BG683199 
    BC026215 BU687261 CF455383 AK095942 BM669907 AJ709275 AJ573021 BM702291 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SNTA1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
    SP1:                          -                                               -           -               
    SP2:              -     -     -                                                                           
    SP3:                                                                                                      
    SP4:                    -     -                                                                           
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for SNTA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SNTA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGAGCTG
    SNTA1 Expression
    About this image


    SNTA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Thyroid (Endocrine System)
    SNTA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SNTA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.31121

    UniProtKB/Swiss-Prot: SNTA1_HUMAN, Q13424
    Tissue specificity: High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney
    and lung. Not detected in placenta

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNTA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SNTA1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snta11 , 5 syntrophin, acidic 11, 5 87.64(n)1
    93.59(a)1
      2 (76.52 cM)5
    206481  NM_009228.21  NP_033254.21 
     1543763135 
    chicken
    (Gallus gallus)
    Aves SNTA16
    syntrophin, alpha 1
    70(a)
    1 ↔ 1
    20(2580100-2587930)
    lizard
    (Anolis carolinensis)
    Reptilia SNTA16
    syntrophin, alpha 1
    58(a)
    1 ↔ 1
    4(136241362-136331849)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238702 Xenopus laevis transcribed sequence with weak similarity more 74.74(n)    CD328098.1 
    zebrafish
    (Danio rerio)
    Actinopterygii SNTA16
    syntrophin, alpha 1
    50(a)
    1 ↔ 1
    6(57638387-57683630) ENSDARG00000090781
    fruit fly
    (Drosophila melanogaster)
    Insecta Syn16
    Syntrophin-like 1
    31(a)
    1 → many
    3L(21738459-21763634)
    worm
    (Caenorhabditis elegans)
    Secernentea stn-13 beta1-syntrophin 37(a)   I(9509379-9512877)   --


    ENSEMBL Gene Tree for SNTA1 (if available)
    TreeFam Gene Tree for SNTA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SNTA1 gene
    SNTB12  SNTG12  SNTB22  SNTG22  GOPC2  
    2 SIMAP similar genes for SNTA1 using alignment to 3 protein entries:     SNTA1_HUMAN (see all proteins):
    SNTB1    SNTB2

    SNTA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SNTA1 (see all 771)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs561574221,2,,4
    C,FLong QT syndrome 12 (LQT12)4 --32008091(+) ACCTCG/CCACTA 2 /A /G mis12Minor allele frequency- C:0.00NA EU 5845
    VAR_0624004
    Long QT syndrome 12 (LQT12)4--see VAR_0624002 A V mis40--------
    rs1214345001,2
    Cpathogenic132005580(-) GCTGGC/TTGCCT 2 A V mis10--------
    rs1395322101,2
    Cunknown132034392(+) CTGCAC/GAGGTA 1 -- int10--------
    rs1450113781,2
    C--32002886(+) TGGGG-/AAAAAGC 1 -- ds50010--------
    rs1864577881,2
    --32002914(+) GAAAAC/TTCAAG 1 -- ds50010--------
    rs114694191,2
    C--32002934(+) CACAC-/ATATGTG 1 -- int11Minor allele frequency- AT:0.00NA 2
    rs751042451,2
    C--32002935(+) ACACAC/TATGTG 1 -- int10--------
    rs1903611881,2
    --32003047(+) TAGCCA/GACAAC 1 -- ds50010--------
    rs792336151,2
    C--32003072(+) ATGAGC/TGACCC 1 -- ds50012Minor allele frequency- T:0.09CSA EA 122

    HapMap Linkage Disequilibrium report for SNTA1 (31995761 - 32031698 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SNTA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv522690CNV Loss19592680

    Human Gene Mutation Database (HGMD): SNTA1
    Locus Specific Mutation Databases (LSDB): SNTA1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SNTA1
    DNA2.0 Custom Variant and Variant Library Synthesis for SNTA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601017   
    OMIM disorders: 612955  
    UniProtKB/Swiss-Prot: SNTA1_HUMAN, Q13424
  • Long QT syndrome 12 (LQT12) [MIM:612955]: A heart disorder characterized by a prolonged QT interval on
    the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or
    emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 13 diseases for SNTA1:    
    About MalaCards
    long qt syndrome 12    long qt syndrome 1    sudden infant death syndrome    long qt syndrome
    becker muscular dystrophy    left ventricular noncompaction    syncope    duchenne muscular dystrophy
    muscular dystrophy    myopathy    multiple myeloma    myeloma
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for SNTA1:
    Long QT syndrome     Duchenne muscular dystrophy

    SNTA1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SNTA1
    Human Genome Epidemiology (HuGE) Navigator: SNTA1 (2 documents)

    Export disorders for SNTA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SNTA1 gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with SNTA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. (PubMed id 19684871)1, 2, 4, 9 Wu G.... Vatta M. (Circ. Arrhythm. Electrophysiol. 2008)
    2. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. (PubMed id 8576247)1, 2, 3, 9 Ahn A.H.... Kunkel L.M. (J. Biol. Chem. 1996)
    3. Characterization of the dystrophin-syntrophin interaction using the two-hybrid system in yeast. (PubMed id 8612778)1, 2, 3 Castello A.... Gilgenkrantz H. (FEBS Lett. 1996)
    4. Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. (PubMed id 20009079)1, 4 Cheng J....Ackerman M.J. (Circ Arrhythm Electrophysiol 2009)
    5. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. (PubMed id 18591664)1, 2 Ueda K.... Makielski J.C. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The C-terminus of human glutaminase L mediates association with PDZ domain-containing proteins. (PubMed id 11163757)1, 2 Olalla L.... Marquez J. (FEBS Lett. 2001)
    10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6640 HGNC: 11167 AceView: SNTA1 Ensembl:ENSG00000101400 euGenes: HUgn6640
    ECgene: SNTA1 H-InvDB: SNTA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SNTA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SNTA1 gene:
    Search GeneIP for patents involving SNTA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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