1. Gene
  2. SNTA1 - syntrophin alpha 1 Gene

SNTA1 - syntrophin alpha 1 Gene

中文名称:肌营养素α1

种属: Homo sapiens

同用名: SNT1; LQT12; TACIP1; dJ1187J4.5

基因 ID: 6640 | 基因类型: protein coding

关于 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.

功能概要

Syntrophins 是细胞质外周膜支架蛋白,是抗肌萎缩蛋白相关蛋白复合物的组成部分。该基因是 syntrophin 基因家族的一员,编码心脏组织中最常见的 syntrophin 亚型。这种 syntrophin 蛋白的 N 端 PDZ 结构域与心脏钠通道 Nav1.5 的成孔 α 亚基 (SCN5A) 的 C 端相互作用。这种蛋白质还将心脏钠通道与心肌细胞中的一氧化氮合酶-PMCA4b (质膜 Ca-ATP 酶亚型 4b) 复合物相关联。该基因是长 QT 综合征 (LQT) 和婴儿猝死综合征 (SIDS) 的易感位点,LQT 是一种与心律失常引起的心脏性猝死相关的遗传性疾病。这种蛋白质还与神经肌肉接头处的抗肌萎缩蛋白和抗肌萎缩蛋白相关蛋白结合,并改变肌肉组织中的细胞内钙离子水平。[RefSeq 提供,2013 年 1 月]

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 基因产物(1)

mRNA Protein Name
NM_003098.3 NP_003089.1 alpha-1-syntrophin
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATPase binding IPI
IPI: 通过物理相互作用推断
18591664 GOA
enables nitric-oxide synthase binding IPI
IPI: 通过物理相互作用推断
18591664 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9356463 GOA
enables sodium channel regulator activity IMP
IMP: 通过突变表型推断
18591664 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
18591664 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of peptidyl-cysteine S-nitrosylation IMP
IMP: 通过突变表型推断
18591664 GOA
involved in regulation of heart rate IMP
IMP: 通过突变表型推断
18591664 GOA
involved in regulation of sodium ion transmembrane transport IMP
IMP: 通过突变表型推断
18591664 GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization IMP
IMP: 通过突变表型推断
18591664 GOA
involved in ventricular cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
18591664 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of protein-containing complex IDA
IDA: 通过直接分析推断
18591664 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SNTA1 蛋白结构

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (89 - 166)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 505 a.a.
蛋白主名 其他名称

alpha-1-syntrophin

59 kDa dystrophin-associated protein A1 acidic component 1

SNTA1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SNTA1 Q13424 DMD Homo sapiens P11532
TAP
18468998
种属内
SNTA1 Q13424 ADRA1D Homo sapiens P25100 26617989
种属内
SNTA1 Q13424 ADRA1D Homo sapiens P25100
Y2H
16533813
种属间
SNTA1 Q13424 Mapk12 Rattus norvegicus Q63538
Y2H
10212242
种属间
SNTA1 Q13424 Mapk12 Rattus norvegicus Q63538 10212242
种属间: 跨种属相互作用 种属内: 同种属相互作用

SNTA1 抗体

目录号 产品名 应用 反应物种
HY-P82083 Syntrophin alpha 1 Antibody (YA1828) WB, IHC-P, ICC/IF, FC Human, Mouse

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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