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    SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) [ Homo sapiens (human) ]

    Gene ID: 6641, updated on 5-May-2013
    Official Symbol
    SNTB1provided by HGNC
    Official Full Name
    syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)provided by HGNC
    Primary source
    HGNC:11168
    See related
    Ensembl:ENSG00000172164; HPRD:02490; MIM:600026; Vega:OTTHUMG00000165041
    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
    A1B; SNT2; BSYN2; 59-DAP; DAPA1B; SNT2B1; TIP-43
    Summary
    Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
    Location :
    8q23-q24
    Sequence :
    Chromosome: 8; NC_000008.10 (121547985..121824309, complement)
    See SNTB1 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene collagen, type XIV, alpha 1 Neighboring gene mitochondrial ribosomal protein L13 Neighboring gene Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa Neighboring gene non-SMC condensin I complex, subunit G pseudogene Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene Neighboring gene ribosomal protein L35a pseudogene 19

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Wang KS, et al. Schizophr Res, 2010 Dec. PMID 20889312.
    2. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. Rothenberg ME, et al. Nat Genet, 2010 Apr. PMID 20208534.
    3. Identification and characterization of proteins interacting with SIRT1 and SIRT3: implications in the anti-aging and metabolic effects of sirtuins. Law IK, et al. Proteomics, 2009 May. PMID 19343720.
    4. Blood pressure is regulated by an alpha1D-adrenergic receptor/dystrophin signalosome. Lyssand JS, et al. J Biol Chem, 2008 Jul 4. PMID 18468998.
    5. Syntrophins regulate alpha1D-adrenergic receptors through a PDZ domain-mediated interaction. Chen Z, et al. J Biol Chem, 2006 May 5. PMID 16533813.

    See all (24) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. beta1-syntrophin acts through a class-I PDZ interaction with the C terminus of ABCA1 to regulate the cellular distribution and activity of the transporter
      Title: Purification of ATP-binding cassette transporter A1 and associated binding proteins reveals the importance of beta1-syntrophin in cholesterol efflux.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q13884 O95477 ABCA1    HPRD  PubMed  
    Q13884 P25100 ADRA1D    HPRD  PubMed  
    Q13884 Q13574 DGKZ    HPRD  PubMed  
    Q13884 P11532 DMD    HPRD  PubMed  
    Q13884 Q9Y4J8 DTNA    HPRD  PubMed  
    Q13884 Q14500 KCNJ12    HPRD  PubMed  
    Q13884 P53778 MAPK12    HPRD  PubMed  
    Q13884 P35499 SCN4A    HPRD  PubMed  
    Q13884 Q14524 SCN5A    HPRD  PubMed  
    Q13884 P46939 UTRN    HPRD  PubMed  
    BioGRID:112524 BioGRID:114095 DGKZ    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112524 BioGRID:108096 DMD    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112524 BioGRID:109970 KCNJ12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:112524 BioGRID:112236 SCN5A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112524 BioGRID:116982 SIRT3    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ22442, MGC111389

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    		  
    phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  
    synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    beta-1-syntrophin
    Names
    beta-1-syntrophin
    syntrophin-2
    tax interaction protein 43
    59 kDa dystrophin-associated protein A1 basic component 1
    dystrophin-associated protein A1, 59kD, basic component 1

    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.

    mRNA and Protein(s)

    1. NM_021021.3 → NP_066301.1  beta-1-syntrophin

      Status: REVIEWED

      Source sequence(s)
      AC105142, AK292655, BC098573
      Consensus CDS
      CCDS6334.1
      UniProtKB/Swiss-Prot
      Q13884
      Related
      ENSP00000378965, OTTHUMP00000228252, ENST00000395601, OTTHUMT00000381535
      Conserved Domains (2) summary
      cd00992
      Location:133 – 192
      Blast Score: 148
      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) ...
      cl00273
      Location:325 – 431
      Blast Score: 284
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p10 Primary Assembly

      Range
      121547985..121824309, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      116868352..117146047, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018919.1 Alternate CHM1_1.0

      Range
      121819427..122095750, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01037837.1 (68573..177075) None
    genomic ABBA01037838.1 None
    genomic ABBA01037839.1 None
    genomic AC104958.6 (10993..154230) None
    genomic AC105142.4 None
    genomic AC129906.2 (66263..119122) None
    genomic AJ333934.1 (165..504) None
    genomic AMYH01018995.1 (153150..429473) None
    genomic CH471060.1 EAW92008.1
    genomic L31529.1 AAA81523.1
    mRNA AF028828.1 AAB84253.1
    mRNA AK025100.1 None
    mRNA AK026095.1 None
    mRNA AK292655.1 BAF85344.1
    mRNA BC023571.2 None
    mRNA BC098573.1 AAH98573.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13884.3 GenPept UniProtKB/Swiss-Prot:Q13884

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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