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    Sntb1 syntrophin, basic 1 [ Mus musculus (house mouse) ]

    Gene ID: 20649, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Sntb1provided by MGI
    Official Full Name
    syntrophin, basic 1provided by MGI
    Primary source
    MGI:MGI:101781
    See related
    Ensembl:ENSMUSG00000060429 AllianceGenome:MGI:101781
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable PDZ domain binding activity. Located in synapse. Is expressed in brain and palatal shelf. Orthologous to human SNTB1 (syntrophin beta 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in subcutaneous fat pad adult (RPKM 7.5), adrenal adult (RPKM 7.5) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sntb1 in Genome Data Viewer
    Location:
    15 D1; 15 22.14 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (55499784..55770707, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (55636388..55907302, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L13 Neighboring gene Mdm2, transformed 3T3 cell double minute p53 binding protein Neighboring gene STARR-seq mESC enhancer starr_38714 Neighboring gene STARR-seq mESC enhancer starr_38715 Neighboring gene STARR-seq mESC enhancer starr_38716 Neighboring gene STARR-seq mESC enhancer starr_38717 Neighboring gene STARR-positive B cell enhancer ABC_E5477 Neighboring gene STARR-seq mESC enhancer starr_38718 Neighboring gene predicted gene, 46516 Neighboring gene STARR-seq mESC enhancer starr_38720 Neighboring gene fibrillarin pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. β1-syntrophin modulation by miR-222 in mdx mice. De Arcangelis V, et al. PLoS One, 2010 Aug 10. PMID 20856896, Free PMC Article
    2. β1 Syntrophin Supports Autophagy Initiation and Protects against Cerulein-Induced Acute Pancreatitis. Ye R, et al. Am J Pathol, 2019 Apr. PMID 30653956, Free PMC Article
    3. Functional specialization of retinal Müller cell endfeet depends on an interplay between two syntrophin isoforms. Katoozi S, et al. Mol Brain, 2020 Mar 16. PMID 32178707, Free PMC Article
    4. Targeted deletion of β1-syntrophin causes a loss of K(ir) 4.1 from Müller cell endfeet in mouse retina. Rao SB, et al. Glia, 2019 Jun. PMID 30803043, Free PMC Article
    5. Mice lacking α-, β1- and β2-syntrophins exhibit diminished function and reduced dystrophin expression in both cardiac and skeletal muscle. Kim MJ, et al. Hum Mol Genet, 2019 Feb 1. PMID 30256963, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Orchestrating aquaporin-4 and connexin-43 expression in brain: Differential roles of alpha1- and beta1-syntrophin.
      Title: Orchestrating aquaporin-4 and connexin-43 expression in brain: Differential roles of α1- and β1-syntrophin.
    2. Functional specialization of retinal Muller cell endfeet depends on an interplay between two syntrophin isoforms.
      Title: Functional specialization of retinal Müller cell endfeet depends on an interplay between two syntrophin isoforms.
    3. Targeted disruption of Beta1-syntrophin causes a loss of Kir4.1 from Muller cell endfeet in the retina.
      Title: Targeted deletion of β1-syntrophin causes a loss of K(ir) 4.1 from Müller cell endfeet in mouse retina.
    4. importance of the microRNA system in the regulation of dystrophin-glycoprotein complex components in dystrophic muscle
      Title: β1-syntrophin modulation by miR-222 in mdx mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables PDZ domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of dystrophin-associated glycoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    beta-1-syntrophin
    Names
    59 kDa dystrophin-associated protein A1 basic component 1
    59-1 DAP
    DAPA1B
    beta1-Syntrophin
    syntrophin-2

    NCBI Reference Sequences (RefSeq)

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    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_001411769.1 → NP_001398698.1  beta-1-syntrophin

      Status: VALIDATED

      Source sequence(s)
      AC122769, AC123682, AC123704
      UniProtKB/Swiss-Prot
      O35925, Q99L88

    2. NM_016667.4 → NP_057876.1  beta-1-syntrophin

      See identical proteins and their annotated locations for NP_057876.1

      Status: VALIDATED

      Source sequence(s)
      AC122769, AC123682, AC123704
      Consensus CDS
      CCDS27479.1
      UniProtKB/Swiss-Prot
      O35925, Q99L88
      Related
      ENSMUSP00000041294.6, ENSMUST00000039769.13
      Conserved Domains (3) summary
      cd00992
      Location:110 → 191
      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:241 → 298
      PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
      pfam00169
      Location:322 → 429
      PH; PH domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      55499784..55770707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99L88.4 GenPept UniProtKB/Swiss-Prot:Q99L88

    Gene LinkOut

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

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