SNTA1 syntrophin alpha 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNTA1provided by HGNC
Official Full Name: syntrophin alpha 1provided by HGNC
Primary source: HGNC:HGNC:11167
See related: Ensembl:ENSG00000101400 MIM:601017; AllianceGenome:HGNC:11167
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: SNT1; LQT12; TACIP1; dJ1187J4.5
Summary: Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]
Expression: Broad expression in heart (RPKM 50.7), thyroid (RPKM 41.8) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (33407957..33443763, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (35135186..35170977, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (31995763..32031569, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients.
Title: SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients.
Jasplakinolide Attenuates Cell Migration by Impeding Alpha-1-syntrophin Protein Phosphorylation in Breast Cancer Cells.
Title: Jasplakinolide Attenuates Cell Migration by Impeding Alpha-1-syntrophin Protein Phosphorylation in Breast Cancer Cells.
alpha-Syntrophin alleviates ER stress to maintain protein homeostasis during myoblast differentiation.
Title: α-Syntrophin alleviates ER stress to maintain protein homeostasis during myoblast differentiation.
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.
not associated with sudden infant death syndrome
Title: The gene encoding the inwardly rectifying potassium channel Kir4.1 may be involved in sudden infant death syndrome.
Low SNTA expression is associated with non-alcoholic steatohepatitis but is unchanged in hepatocellular carcinoma.
Title: The adaptor protein alpha-syntrophin is reduced in human non-alcoholic steatohepatitis but is unchanged in hepatocellular carcinoma.
A novel SNTA1 variant is likely causative for drug induced long-QT syndrome by augmenting the late sodium current.
Title: α1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current.
In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes.
Title: The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
our results present a possible mechanism of Rac1 activation involving SNTA1 and emphasise its role in ROS generation, cell migration, and acquisition of malignancy.
Title: Role of SNTA1 in Rac1 activation, modulation of ROS generation, and migratory potential of human breast cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Long QT syndrome 12 MedGen: C2751830 OMIM: 612955 GeneReviews: Long QT Syndrome Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Yeast two hybrid assay identifies the HIV-1 Nef-interacting protein syntrophin	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH41835 (e-PCR)
- UniSTS:24593

D20S724 (e-PCR)
- UniSTS:53376

G32321 (e-PCR)
- UniSTS:116914

A006C20 (e-PCR)
- UniSTS:59624

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables PDZ domain binding	IEA Inferred from Electronic Annotation 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	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of peptidyl-cysteine S-nitrosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular junction development	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of sodium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vasoconstriction by circulating norepinephrine	IEA Inferred from Electronic Annotation more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed

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
colocalizes_with lateral plasma membrane	TAS Traceable Author Statement more info	PubMed
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
part_of syntrophin complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: alpha-1-syntrophin

Names: 59 kDa dystrophin-associated protein A1 acidic component 1; acidic alpha 1 syntrophin; dystrophin-associated protein A1, 59kDa, acidic component; pro-TGF-alpha cytoplasmic domain-interacting protein 1; 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.

Genomic

NG_011622.1 RefSeqGene

Range

5001..40936

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_332

mRNA and Protein(s)

NM_001424413.1 → NP_001411342.1 alpha-1-syntrophin isoform 2

Status: REVIEWED

Source sequence(s)

AL355392
NM_001424414.1 → NP_001411343.1 alpha-1-syntrophin isoform 3

Status: REVIEWED

Source sequence(s)

AL355392
NM_003098.3 → NP_003089.1 alpha-1-syntrophin isoform 1

See identical proteins and their annotated locations for NP_003089.1

Status: REVIEWED

Source sequence(s)

AL355392

Consensus CDS

CCDS13220.1

UniProtKB/Swiss-Prot

A8K7H9, B4DX40, E1P5N1, Q13424, Q16438

Related

ENSP00000217381.2, ENST00000217381.3

Conserved Domains (4) summary

smart00233
Location:298 → 401

PH; Pleckstrin homology domain

cd00992
Location:86 → 167

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:209 → 270

PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain

pfam00169
Location:298 → 401

PH; PH domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

33407957..33443763 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011529008.2 → XP_011527310.1 alpha-1-syntrophin isoform X3

Conserved Domains (4) summary

smart00233
Location:298 → 401

PH; Pleckstrin homology domain

cd00992
Location:86 → 167

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:209 → 270

PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain

pfam00169
Location:298 → 401

PH; PH domain
XM_047440392.1 → XP_047296348.1 alpha-1-syntrophin isoform X4
XM_024451971.2 → XP_024307739.1 alpha-1-syntrophin isoform X5

UniProtKB/TrEMBL

B3KTR0

Conserved Domains (3) summary

cd00992
Location:1 → 58

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:100 → 161

PHsplit_syntrophin; Syntrophin Split Pleckstrin homology (PH) domain

pfam00169
Location:189 → 292

PH; PH domain