SNTA1 - syntrophin alpha 1 Gene

Also Known as SNT1; LQT12; TACIP1; dJ1187J4.5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6640

About SNTA1

Cytogenetic location: 20q11.21 Genomic coordinates (GRCh38): 20:33,407,957-33,443,763 (from NCBI)

This gene has 1 transcript (splice variant), 196 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 50.7), thyroid (RPKM 41.8) and 19 other tissues.

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]

SNTA1 Products (1)

mRNA	Protein	Name
NM_003098.3	NP_003089.1	alpha-1-syntrophin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	18591664	GOA
enables nitric-oxide synthase binding	IPI IPI: Inferred from physical interaction	18591664	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9356463	GOA
enables sodium channel regulator activity	IMP IMP: Inferred from mutant phenotype	18591664	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	18591664	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of peptidyl-cysteine S-nitrosylation	IMP IMP: Inferred from mutant phenotype	18591664	GOA
involved in regulation of heart rate	IMP IMP: Inferred from mutant phenotype	18591664	GOA
involved in regulation of sodium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	18591664	GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	18591664	GOA
involved in ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	18591664	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	18591664	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNTA1 Protein Structure

PDZ

0
100
200
300
400
505 a.a.

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

SNTA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SNTA1	Q13424	DMD	Homo sapiens	P11532	TAP	18468998
Intra	SNTA1	Q13424	ADRA1D	Homo sapiens	P25100	Pull Down	26617989
Intra	SNTA1	Q13424	ADRA1D	Homo sapiens	P25100	Y2H	16533813
Cross	SNTA1	Q13424	Mapk12	Rattus norvegicus	Q63538	Y2H	10212242
Cross	SNTA1	Q13424	Mapk12	Rattus norvegicus	Q63538	Anti Bait CoIP	10212242

Cross: Cross-species interaction Intra: Intraspecies interaction

SNTA1 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P82083	Syntrophin alpha 1 Antibody (YA1828)	WB, IHC-P, ICC/IF, FC	Human, Mouse

Related Diseases

Diseases	Alias
Long Qt Syndrome 12	LQT12 Qt Syndrome, Long, Type 12
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Atrial Fibrillation	A-Fib Fibrillation, Atrial Af - [Atrial Fibrillation] Rapid Atrial Fibrillation A Fib - [Atrial Fibrillation]
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Cardiac Arrhythmia, Ankyrin-B-Related	Long Qt Syndrome 4 Ankyrin-B Syndrome LQT4 Ankyrin-B-Related Cardiac Arrhythmia Sick Sinus Syndrome With Bradycardia Arrhythmia, Cardiac, Ankyrin B-Related
Long Qt Syndrome 10	LQT10 Atrial Fibrillation, Familial, 17 ATFB17 Long Qt Syndrome-10 Qt Syndrome, Long, Type 10
Long Qt Syndrome 11	LQT11 Long Qt Syndrome-11 Qt Syndrome, Long, Type 11
Long Qt Syndrome 9	LQT9 Long Qt Syndrome-9 Qt Syndrome, Long, Type 9
Long Qt Syndrome 3	LQT3 Long Qt Syndrome Type 3 Long Qt Syndrome-3 Qt Syndrome, Long, Type 3
Long Qt Syndrome 15	LQT15 Long Qt Syndrome, Type 15
Long Qt Syndrome 6	LQT6 Long Qt Syndrome 3/6 Lqt3/6 Susceptibility To Acquired Long Qt Syndrome 6 Long Qt Syndrome-6 Long Qt Syndrome 6, Acquired, Susceptibility To Qt Syndrome, Long, Type 6 Long Qt Syndrome 3-6
Long Qt Syndrome 13	LQT13 Qt Syndrome, Long, Type 13
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Immunodeficiency Syndrome, Variable ICF1 Ciid Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Centromeric Instability, Immunodeficiency Syndrome Icf Syndrome 1 Centromeric Instability Immunodeficiency Syndrome Icf Syndrome Variable Immune Deficiency With Centromeric Instability Of Chromosomes 1 9 And 16 Variable Immunodeficiency Syndrome Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 1 Common Variable Immunodeficiency Chromosomal Instability
Long Qt Syndrome 5	LQT5 Long Qt Syndrome 2/5 Lqt2/5 Susceptibility To Acquired Long Qt Syndrome 5 Long Qt Syndrome-5 Long Qt Syndrome 5, Acquired, Susceptibility To Qt Syndrome, Long, Type 5 Long Qt Syndrome 2-5
Long Qt Syndrome 14	LQT14 Long Qt Syndrome, Type 14
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Long Qt Syndrome 2	LQT2 Long Qt Syndrome, Acquired, Reduced Susceptibility To Long Qt Syndrome 1/2 Long Qt Syndrome 2/3 Long Qt Syndrome 2/5 Long Qt Syndrome 2, Acquired, Susceptibility To Long Qt Syndrome, Acquired, Reduced Long Qt Syndrome Type 2 Long Qt Syndrome 2/9 Lqt1/2 Lqt2/3 Lqt2/5 Lqt2/9 Susceptibility To Acquired Long Qt Syndrome 2 Long Qt Syndrome-2 Qt Syndrome, Long, Type 2 Long Qt Syndrome 1-2 Long Qt Syndrome 2-3 Long Qt Syndrome 2-5 Long Qt Syndrome 9
Andersen Cardiodysrhythmic Periodic Paralysis	Andersen Syndrome Andersen-Tawil Syndrome LQT7 Long Qt Syndrome 7 Ats Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Long Qt Syndrome Type 7 Andersen Tawil Syndrome Potassium-Sensitive Cardiodysrhythmic Type Lqts Type 7 Long Qt Syndrome-7
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Cardiomyopathy, Dilated, 3b	Dilated Cardiomyopathy 3b CMD3B X-Linked Dilated Cardiomyopathy Xlcm Dmd-Associated Dilated Cardiomyopathy Cardiomyopathy, Dilated, X-Linked Dmd-Related Dilated Cardiomyopathy Xldc Cardiomyopathy, Dilated, X-Linked 3b Cardiomyopathy, Dilated, Type 3b
Muscular Dystrophy, Becker Type	Becker Muscular Dystrophy BMD Benign Pseudohypertrophic Muscular Dystrophy Benign Congenital Myopathy Becker Dystrophinopathy Becker'S Muscular Dystrophy Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Becker Dystrophy, Muscular, Becker Type Dystrophinopathy Becker Dystrophy Becker Type Dystrophy Bmd - [Becker Muscular Dystrophy]
Jervell And Lange-Nielsen Syndrome 1	Jervell And Lange-Nielsen Syndrome Jervell-Lange Nielsen Syndrome Prolonged Qt Interval In Ekg And Sudden Death Cardioauditory Syndrome Of Jervell And Lange-Nielsen Surdo-Cardiac Syndrome JLNS1 Deafness, Congenital, And Functional Heart Disease Jlns Long Qt Interval-Deafness Syndrome Jervell And Lange-Nielson Syndrome Jervell Lange-Nielsen Syndrome Autosomal Recessive Long Qt Syndrome Cardio-Auditory-Syncope Syndrome Long Qt Interval-Hearing Loss Syndrome Congenital Deafness And Functional Heart Disease Long Qt Interval-Deafness
Intrinsic Cardiomyopathy
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Myopathy	Muscular Diseases Myopathies
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS13512	SNTA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22813	Snta1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29328	Snta1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SNTA1	VGNC	VGNC:65538
Bos taurus	SNTA1	VGNC	VGNC:35083
Mus musculus	SNTA1	MGD	MGI:101772
Macaca mulatta	SNTA1	VGNC	VGNC:77679
Rattus norvegicus	SNTA1	RGD	RGD:1307068
Canis familiaris	SNTA1	VGNC	VGNC:49653
Others	SNTA1	NCBI