1. Gene
  2. TNNT1 - troponin T1, slow skeletal type Gene

TNNT1 - troponin T1, slow skeletal type Gene

中文名称:肌钙蛋白 T1,慢骨骼型

种属: Homo sapiens

同用名: ANM; TNT; NEM5; STNT; TNTS

基因 ID: 7138 | 基因类型: protein coding

关于 TNNT1

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,132,698-55,149,206 (from NCBI)

This gene has 16 transcripts (splice variants), 240 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in esophagus (RPKM 142.1), prostate (RPKM 132.0) and 2 other tissues.

功能概要

该基因编码的蛋白质是肌钙蛋白的一个亚基,肌钙蛋白是一种位于肌节细丝上的调节复合物。该复合物调节横纹肌收缩以响应细胞内钙浓度的波动。该复合物由三个亚基组成:肌钙蛋白 C (结合钙) 、肌钙蛋白 T (结合原肌球蛋白) 和肌钙蛋白 I (抑制亚基) 。这种蛋白质是慢速骨骼肌钙蛋白 T 亚基。该基因的突变会导致 5 型线形肌病,也称为阿米什线形肌病,这是一种神经肌肉疾病,其特征是肌肉无力和骨骼肌纤维中的杆状或线形夹杂物,影响婴儿,导致因呼吸功能不全而死亡,通常在第二年。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

TNNT1 基因产物(4)

mRNA Protein Name
NM_001126132.3 NP_001119604.1 troponin T, slow skeletal muscle isoform b
NM_001126133.3 NP_001119605.1 troponin T, slow skeletal muscle isoform c
NM_001291774.2 NP_001278703.1 troponin T, slow skeletal muscle isoform c
NM_003283.6 NP_003274.3 troponin T, slow skeletal muscle isoform a
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 protein binding IPI
IPI: 通过物理相互作用推断
21516116 GOA
enables tropomyosin binding IMP
IMP: 通过突变表型推断
15665378 GOA
enables tropomyosin binding IPI
IPI: 通过物理相互作用推断
35510366 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of muscle contraction IDA
IDA: 通过直接分析推断
18032382 GOA
involved in skeletal muscle contraction IMP
IMP: 通过突变表型推断
10952871 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of troponin complex IDA
IDA: 通过直接分析推断
18032382 GOA
part of troponin complex IMP
IMP: 通过突变表型推断
15665378 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

TNNT1 蛋白结构

Troponin

Troponin: Troponin (69 - 207)

  • 0
  • 100
  • 200
  • 278 a.a.
蛋白主名 其他名称

troponin T, slow skeletal muscle

slow skeletal muscle troponin T

TNNT1 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
Intra TNNT1 P13805 KRT40 Homo sapiens Q6A162
Y2H Array
25416956
Intra TNNT1 P13805 KRT40 Homo sapiens Q6A162
Y2H Prey Pooling
25416956
Intra TNNT1 P13805 TPM3 Homo sapiens Q5VU62
Validated Y2H
25416956
Intra TNNT1 P13805 TPM3 Homo sapiens Q5VU62
Y2H Prey Pooling
25416956
Intra TNNT1 P13805 TFIP11 Homo sapiens Q9UBB9
Y2H Array
31515488
Intra TNNT1 P13805 NFE2L2 Homo sapiens Q16236
Y2H Prey Pooling
25416956
Intra TNNT1 P13805 TPM1 Homo sapiens P09493
Y2H
21516116
Intra TNNT1 P13805 TPM1 Homo sapiens P09493
Y2H Prey Pooling
25416956
Intra TNNT1 P13805 MORF4L1 Homo sapiens Q9UBU8
Y2H Array
25416956
Intra TNNT1 P13805 TBPL1 Homo sapiens P62380
Validated Y2H
25416956
Intra TNNT1 P13805 TBPL1 Homo sapiens P62380
Y2H Prey Pooling
25416956
Intra TNNT1 P13805 LDOC1 Homo sapiens O95751
Y2H Prey Pooling
25416956
Intra TNNT1 P13805 LDOC1 Homo sapiens O95751
Y2H Array
31515488
Intra TNNT1 P13805 LDOC1 Homo sapiens O95751
Validated Y2H
25416956
Intra TNNT1 P13805 LDOC1 Homo sapiens O95751
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Nemaline Myopathy 5

Amish Nemaline Myopathy

NEM5

Anm

Nemaline Myopathy, Amish Type

Nemaline Myopathy 5, Amish Type

Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene

Nemaline Myopathy, Type 5

Nemaline Myopathy Amish Type

Tnnt1-Related Nemaline Myopathy

Myopathy, Nemaline, Type 5

Nemaline Myopathy

Rod Myopathy

Nemaline Body Disease

Nemaline Rod Myopathy

Myopathies, Nemaline

Nm

Nemaline Rod Disease

Rod Body Disease

Rod-Body Myopathy

Myopathy, Nemaline

Congenital Rod Disease

Nem

Nemaline Bodies

Myopathies Nemaline

Myopathy

Muscular Diseases

Myopathies

Acute Anterolateral Myocardial Infarction

Acute Myocardial Infarction Of Anterolateral Wall

Pectus Carinatum

Carinatum Deformity Of The Chest

Cataract 10, Multiple Types

Cataract 10 Multiple Types

CTRCT10

Cataract, Congenital Zonular, With Sutural Opacities

Cczs

Congenital Zonular Cataract With Sutural Opacities

Cataract, Congenital, Zonular With Sutural Opacities

Cataract, Type 10, Multiple Types

Pulmonary Embolism

Pulmonary Artery Embolism

Pulmonary Embolus

Pulmonary Emboli

Left Bundle Branch Hemiblock

Left Bundle Branch Block

Left Bundle-Branch Block

Inferior Myocardial Infarction

Inferior Wall Myocardial Infarction

Congenital Structural Myopathy
Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Acute Myocarditis
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

Intermediate Coronary Syndrome

Unstable Angina

Angina At Rest

Anginal Chest Pain At Rest

Impending Infarction

Preinfarction Angina

Worsening Angina

Angina, Unstable

Myocardial Preinfarction Syndrome

Angina Unstable

Crescendo Angina

Angina Decubitus

Acute Coronary Insufficiency

Unstable Angina Pectoris

Preinfarctional Angina Pectoris

Worsening Effort Angina

Preinfarction Syndrome

Unstable Angina Pectoris Syndrome

Unstable Anginal Attack

Unstable Cardiac Angina

Unstable Chest Angina

Unstable Heart Angina

De Novo Effort Angina Pectoris

Crescendo Angina Pectoris

Ua - [Unstable Angina]

Arthrogryposis, Distal, Type 2b2

DA2B2

Distal Arthrogryposis Type 2b2

Arthrogryposis, Distal, 2b2

Autosomal Recessive Nonsyndromic Deafness 32

Deafness, Autosomal Recessive 32

Autosomal Recessive Deafness 105

Autosomal Recessive Deafness 32

Dfnb32

Hearing Impairment Infertile Male Syndrome

Hiims

Deafness, Autosomal Recessive, Type 32

Cardiomyopathy, Dilated, 2a

Dilated Cardiomyopathy 2a

CMD2A

Cardiomyopathy, Dilated, Autosomal Recessive

Cardiomyopathy, Congestive, Autosomal Recessive

Cardiomyopathy, Dilated 2a

Cardiomyopathy, Dilated, Type 2a

Autosomal Recessive Dilated Cardiomyopathy

Cardiomyopathy, Dilated, 1ff

Dilated Cardiomyopathy 1ff

CMD1FF

Cardiomyopathy, Dilated 1ff

Cardiomyopathy, Dilated, Type 1ff

Mitral Valve Insufficiency

Mitral Regurgitation

Congenital Insufficiency Of Mitral Valve

Congenital Mitral Insufficiency

Congenital Mitral Regurgitation

Mitral Valve Incompetence

Mitral Valve Regurgitation

Mr - [Mitral Regurgitation]

Mi - [Mitral Incompetence]

Mitral Valve Annular Incompetency

Congenital Mitral Valve Incompetence

Congenital Mitral Valve Insufficiency

Congenital Mitral Valve Regurgitation

Congenital Mitral Incompetence

Immunoglobulin Light Chain Amyloidosis

Al Amyloidosis

Primary Amyloidosis

Primary Systemic Amyloidosis

Light Chain Amyloidosis

Amyloidosis Al

Amyloidosis Primary Systemic

Primary Al Amyloidosis

Primary Systemic Al Amyloidosis

Systemic Al Amyloidsis

Systemic Al Amyloidosis

Light-Chain Amyloidosis

Alys Amyloidosis

Familial Amyloid Nephropathy Due To Lysozyme Variant

Familial Renal Amyloidosis Due To Lysozyme Variant

Hereditary Amyloid Nephropathy Due To Lysozyme Variant

Hereditary Renal Amyloidosis Due To Lysozyme Variant

Lysozyme Amyloidosis

Amyloidosis Primary

Immunoglobulin Deposition Disease

Immunoglobulinic Amyloidosis

Amyloid Al

Coronary Artery Vasospasm

Coronary Vasospasm

Coronary Artery Spasm

Myocardial Stunning
Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Nonobstructive Coronary Artery Disease

Non-Cad

Non-Obstructive Coronary Artery Disease

Extrinsic Cardiomyopathy
Pericardium Disease
Tricuspid Valve Insufficiency

Tricuspid Regurgitation

Tricuspid Valve Regurgitation

Tricuspid Incompetence

Tr - [Tricuspid Regurgitation]

Tricuspid Valve Incompetency

Tricuspid Valve Annular Incompetency

Pericardial Effusion

Noninflammatory Pericardial Effusion

Pericardium Effusion

Mitral Valve Disease

Chronic Rheumatic Mitral Valve

Rheumatic Mitral Insufficiency

Disease Of Mitral Valve

Mitral Rh Valve Dis.

Rheumatic Disease Of Mitral Valve

Rheumatic Mitral Valve Changes

Rheumatic Mitral Valve Incompetence

Rheumatic Mitral Valve Regurgitation

Abnormality Of The Mitral Valve

Diseases Of Mitral Valve

Rheumatic Mitral Regurgitation

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

Gas Gangrene

Myonecrosis

Gas Bacillus Infection

Gas Gangrene Due To Clostridia

Clostridial Myonecrosis

Clostridial Cellulitis

Combined Oxidative Phosphorylation Deficiency 33

COXPD33

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Tricuspid Valve Disease

Rheumatic Tricuspid Valve Disease

Disease Of Tricuspid Valve

Rh. Tricuspid Valve Disease

Rheumatic Disease Of Tricuspid Valve

Tricuspid Disease

Tricuspid Valve Disorder

Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy

Combined Oxidative Phosphorylation Deficiency 37

COXPD37

Pulmonary Artery Disease

Abnormality Of The Pulmonary Artery

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome

Arthropathy-Camptodactyly Syndrome

Pericarditis-Arthropathy-Camptodactyly Syndrome

Xyy Syndrome

Pac Syndrome

Cacp Syndrome

CACP

Fibrosing Serositis, Familial

Camptodactyly-Arthropathy-Pericarditis Syndrome

Cap Syndrome

47, Xyy Syndrome

47,Xyy Syndrome

Double Y Syndrome

Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

Hypertrophic Synovitis, Congenital Familial

Congenital Familial Hypertrophic Synovitis

Xyy Karyotype

Y Disomy

Yy Syndrome

Familial Fibrosing Serositis

Disomy Y

Double Y

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

Arthropathy Camptodactyly Syndrome

Camptodactyly Arthropathy Pericarditis Syndrome

Pericarditis Arthropathy Camptodactyly Syndrome

Jacob'S Syndrome

47,Xyy

Cdags Syndrome

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

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
Mus musculus TNNT1 MGD MGI:1333868
Felis catus TNNT1 VGNC VGNC:66427
Canis familiaris TNNT1 VGNC VGNC:47690
Macaca mulatta TNNT1 VGNC VGNC:78606
Bos taurus TNNT1 VGNC VGNC:36194
Rattus norvegicus TNNT1 RGD RGD:621852