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

Gene ID: 20649, updated on 2-Nov-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, Nov 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 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
  
is_active_in intracellular anatomical structure 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

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