TNNT1 - troponin T1, slow skeletal type Gene

Also Known as ANM; TNT; NEM5; STNT; TNTS

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 7138

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA
enables tropomyosin binding	IMP IMP: Inferred from mutant phenotype	15665378	GOA
enables tropomyosin binding	IPI IPI: Inferred from physical interaction	35510366	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in negative regulation of muscle contraction	IDA IDA: Inferred from direct assay	18032382	GOA
involved in skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	10952871	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
part of troponin complex	IDA IDA: Inferred from direct assay	18032382	GOA
part of troponin complex	IMP IMP: Inferred from mutant phenotype	15665378	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

TNNT1 Protein Structure

Troponin

0
100
200
278 a.a.

Protein Preferred Names	Protein Names
troponin T, slow skeletal muscle	slow skeletal muscle troponin T

TNNT1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	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

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
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

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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS14854	TNNT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20117	Tnnt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26621	Tnnt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	TNNT1	NCBI