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

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: human all
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Genomic context

Location:: 2 H1; 2 76.52 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Soluble galectin-3 was, however, reduced upon SNTA knock-down and increased upon SNTA overexpression.
Title: Alpha-syntrophin deficiency protects against non-alcoholic steatohepatitis associated increase of macrophages, CD8(+) T-cells and galectin-3 in the liver.
Data (including data from studies conducted in knockout mice) suggest that Snta1 is involved in regulation of expression of Tuba8 in hepatocytes (but not in hepatic stellate cells); here, Snta1 protein levels are inversely related to Tuba8 protein expression in hepatocyte cell line. (Snta1 = syntrophin alpha-1; Tuba8 = tubulin alpha-8 chain)
Title: Alpha-syntrophin dependent expression of tubulin alpha 8 protein in hepatocytes.
High expression of Snta1 is associated with adipocyte hypertrophy and ectopic triglyceride deposition in obesity.
Title: Alpha-syntrophin deficient mice are protected from adipocyte hypertrophy and ectopic triglyceride deposition in obesity.
SNTA deficient mice are protected from fat loss and non-alcoholic steatohepatitis in the experimental methionine-choline-deficient model.
Title: Alpha-syntrophin null mice are protected from non-alcoholic steatohepatitis in the methionine-choline-deficient diet model but not the atherogenic diet model.
Data indicate that alpha-syntrophin plays an important role in the regulation of oxidative stress from endogenously generated reactive oxygen species (ROS) during myoblast differentiation by modulating the protein stability of catalase.
Title: α-Syntrophin stabilizes catalase to reduce endogenous reactive oxygen species levels during myoblast differentiation.
the function of SNTA has been analyzed in 3T3-L1 cells.
Title: The adaptor protein alpha-syntrophin regulates adipocyte lipid droplet growth.
alpha-syntrophin plays a pivotal role in the survival pathway triggered by menadione-induced oxidative stress in cultured myoblasts.
Title: α-Syntrophin is involved in the survival signaling pathway in myoblasts under menadione-induced oxidative stress.
Alpha-syntrophin deficiency markedly reduces astrocyte swelling during severe hypoosmotic stress/brain edema.
Title: Altered astrocytic swelling in the cortex of α-syntrophin-negative GFAP/EGFP mice.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW228934 (e-PCR)
- UniSTS:178745

U00677 (e-PCR)
- UniSTS:185507

RH134532 (e-PCR)
- UniSTS:217812

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

Process	Evidence Code	Pubs
involved_in negative regulation of peptidyl-cysteine S-nitrosylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate	ISO Inferred from Sequence Orthology more info
involved_in regulation of sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of vasoconstriction by circulating norepinephrine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	ISO Inferred from Sequence Orthology more info
involved_in ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology 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
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
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
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info

General protein information

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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)

NM_009228.2 → NP_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:292 → 395

PH; Pleckstrin homology domain

cd00992
Location:80 → 161

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:203 → 264

PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain

pfam00169
Location:292 → 395

PH; PH domain