SNTA1 - syntrophin alpha 1 Gene

Homo sapiens

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

Gene ID: 6640 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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.	Product Name	Application	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13512	SNTA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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