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Snta1 syntrophin, acidic 1 [ Mus musculus (house mouse) ]

Gene ID: 20648, updated on 8-Dec-2022

Summary

Official Symbol
Snta1provided by MGI
Official Full Name
syntrophin, acidic 1provided by MGI
Primary source
MGI:MGI:101772
See related
Ensembl:ENSMUSG00000027488 AllianceGenome:MGI:101772
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
Also known as
Snt1
Summary
Enables transmembrane transporter binding activity. Acts upstream of or within neuromuscular junction development and regulation of vasoconstriction by circulating norepinephrine. Located in postsynaptic membrane and sarcolemma. Human ortholog(s) of this gene implicated in long QT syndrome; long QT syndrome 12; and sudden infant death syndrome. Orthologous to human SNTA1 (syntrophin alpha 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal adult (RPKM 25.8), kidney adult (RPKM 24.0) and 26 other tissues See more
Orthologs
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Genomic context

See Snta1 in Genome Data Viewer
Location:
2 H1; 2 76.52 cM
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (154218234..154250004, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (154376313..154408107, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene CDK5 regulatory subunit associated protein 1 Neighboring gene zinc finger protein 54-like Neighboring gene BPI fold containing family B, member 9B Neighboring gene VISTA enhancer mm1461 Neighboring gene predicted gene, 39962 Neighboring gene predicted gene, 52564

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (3) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATPase binding ISO
Inferred from Sequence Orthology
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 nitric-oxide synthase binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sodium channel regulator activity ISO
Inferred from Sequence Orthology
more info
 
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane transporter binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cell 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
PubMed 
is_active_in intracellular anatomical structure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in neuromuscular junction ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
PubMed 
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcolemma ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
alpha-1-syntrophin
Names
59 kDa dystrophin-associated protein A1 acidic component 1
alpha1-syntrophin
syntrophin-1

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_009228.2NP_033254.2  alpha-1-syntrophin

    Status: VALIDATED

    Source sequence(s)
    AK137379, AV328512, BB625367
    Consensus CDS
    CCDS50763.1
    UniProtKB/TrEMBL
    A2AKD7, Q3UVD6
    Related
    ENSMUSP00000105350.2, ENSMUST00000109728.8
    Conserved Domains (4) summary
    smart00233
    Location:292395
    PH; Pleckstrin homology domain
    cd00992
    Location:80161
    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:203264
    PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain
    pfam00169
    Location:292395
    PH; PH domain

RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    154218234..154250004 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)