TNNT1 Gene (Protein Coding)

Troponin T1, Slow Skeletal Type

GC19M055132
GIFtS:
44
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 troponi... See more...

Aliases for TNNT1 Gene

Aliases for TNNT1 Gene

  • Troponin T1, Slow Skeletal Type 2 3 5
  • Slow Skeletal Muscle Troponin T 2 3 4
  • Troponin T Type 1 (Skeletal, Slow) 2 3
  • Troponin T, Slow Skeletal Muscle 3 4
  • TNT 3 4
  • Troponin-T1, Skeletal, Slow 3
  • Troponin T1, Skeletal, Slow 2
  • Nemaline Myopathy Type 5 2
  • NEM5 3
  • STNT 3
  • TNTS 3
  • TnTs 4
  • STnT 4
  • ANM 3

External Ids for TNNT1 Gene

Previous GeneCards Identifiers for TNNT1 Gene

  • GC19M056506
  • GC19M056068
  • GC19M060320
  • GC19M060336
  • GC19M055644
  • GC19M051967

Summaries for TNNT1 Gene

Entrez Gene Summary for TNNT1 Gene

  • 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]

GeneCards Summary for TNNT1 Gene

TNNT1 (Troponin T1, Slow Skeletal Type) is a Protein Coding gene. Diseases associated with TNNT1 include Nemaline Myopathy 5 and Nemaline Myopathy. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include tropomyosin binding and troponin T binding. An important paralog of this gene is TNNT2.

UniProtKB/Swiss-Prot Summary for TNNT1 Gene

  • Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Gene Wiki entry for TNNT1 Gene

Additional gene information for TNNT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNNT1 Gene

Genomics for TNNT1 Gene

GeneHancer (GH) Regulatory Elements for TNNT1 Gene

Promoters and enhancers for TNNT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNNT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TNNT1 gene promoter:
  • CUTL1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • Gfi-1
  • NF-kappaB1

Genomic Locations for TNNT1 Gene

Genomic Locations for TNNT1 Gene
chr19:55,132,698-55,149,354
(GRCh38/hg38)
Size:
16,657 bases
Orientation:
Minus strand
chr19:55,644,161-55,660,722
(GRCh37/hg19)
Size:
16,562 bases
Orientation:
Minus strand

Genomic View for TNNT1 Gene

Genes around TNNT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNNT1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TNNT1 Gene

Proteins for TNNT1 Gene

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  • Protein details for TNNT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13805-TNNT1_HUMAN
    Recommended name:
    Troponin T, slow skeletal muscle
    Protein Accession:
    P13805
    Secondary Accessions:
    • O95472
    • Q16061
    • Q5U0E1

    Protein attributes for TNNT1 Gene

    Size:
    278 amino acids
    Molecular mass:
    32948 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH22086.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TNNT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNNT1 Gene

Protein Expression for TNNT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TNNT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TNNT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TNNT1 Gene

Domains & Families for TNNT1 Gene

Gene Families for TNNT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TNNT1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TNNT1 Gene

GenScript: Design optimal peptide antigens:
  • TNNT1 protein (Q05DL6_HUMAN)
  • Nemaline myopathy mutant slow skeletal muscle troponin T low molecular weight variant (Q56R93_HUMAN)
  • Nemaline myopathy mutant slow skeletal muscle troponin T high molecular weight variant (Q56R94_HUMAN)
  • Slow skeletal muscle troponin T (TNNT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13805

UniProtKB/Swiss-Prot:

TNNT1_HUMAN :
  • Belongs to the troponin T family.
Family:
  • Belongs to the troponin T family.
genes like me logo Genes that share domains with TNNT1: view

Function for TNNT1 Gene

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  6. Cell Line

Molecular function for TNNT1 Gene

UniProtKB/Swiss-Prot Function:
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
GENATLAS Biochemistry:
troponin T1,slow skeletal muscle,four isoforms, component of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration,organized in pair with TNNT3,involved in the attachment of the complex to tropomyosin and troponin I

Phenotypes From GWAS Catalog for TNNT1 Gene

Gene Ontology (GO) - Molecular Function for TNNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA 21873635
GO:0005515 protein binding IPI 21516116
GO:0005523 tropomyosin binding IMP 15665378
GO:0030899 contributes_to calcium-dependent ATPase activity IBA 21873635
GO:0031014 troponin T binding IBA 21873635
genes like me logo Genes that share ontologies with TNNT1: view
genes like me logo Genes that share phenotypes with TNNT1: view

Human Phenotype Ontology for TNNT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNNT1 Gene

MGI Knock Outs for TNNT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNT1

Clone Products

  • Addgene plasmids for TNNT1

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for TNNT1 Gene

Localization for TNNT1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNNT1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TNNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IMP,IEA 15665378
genes like me logo Genes that share ontologies with TNNT1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNNT1 Gene

Pathways & Interactions for TNNT1 Gene

PathCards logo

SuperPathways for TNNT1 Gene

genes like me logo Genes that share pathways with TNNT1: view

Pathways by source for TNNT1 Gene

1 BioSystems pathway for TNNT1 Gene
2 Reactome pathways for TNNT1 Gene

Gene Ontology (GO) - Biological Process for TNNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 10952871
GO:0006936 muscle contraction IBA 21873635
GO:0006937 regulation of muscle contraction IEA --
GO:0014883 transition between fast and slow fiber IEA --
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with TNNT1: view

No data available for SIGNOR curated interactions for TNNT1 Gene

Drugs & Compounds for TNNT1 Gene

Products:

  1. Drug

(1) Drugs for TNNT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773

(1) Additional Compounds for TNNT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNNT1: view

Transcripts for TNNT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TNNT1 Gene

(4) REFSEQ mRNAs :
(19) Additional mRNA sequences :
(579) Selected AceView cDNA sequences:
(17) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNT1

Clone Products

  • Addgene plasmids for TNNT1

Alternative Splicing Database (ASD) splice patterns (SP) for TNNT1 Gene

No ASD Table

Relevant External Links for TNNT1 Gene

GeneLoc Exon Structure for
TNNT1
ECgene alternative splicing isoforms for
TNNT1

Expression for TNNT1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TNNT1 Gene

mRNA expression in normal human tissues for TNNT1 Gene
mRNA expression by GTEx for TNNT1 GenemRNA expression by BioGPS for TNNT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNNT1 Gene

This gene is overexpressed in Muscle - Skeletal (x49.9).

Protein differential expression in normal tissues from HIPED for TNNT1 Gene

This gene is overexpressed in Heart (33.6), Esophagus (21.9), and Stomach (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNNT1 Gene



Protein tissue co-expression partners for TNNT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TNNT1 Gene:

TNNT1

SOURCE GeneReport for Unigene cluster for TNNT1 Gene:

Hs.631558

Evidence on tissue expression from TISSUES for TNNT1 Gene

  • Muscle(5)
  • Heart(3.6)
  • Blood(2.5)
  • Skin(2.2)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNNT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • arm
  • femur
  • hip
  • humerus
  • lower limb
  • shoulder
  • thigh
  • upper limb
General:
  • spinal cord
genes like me logo Genes that share expression patterns with TNNT1: view

No data available for mRNA Expression by UniProt/SwissProt for TNNT1 Gene

Orthologs for TNNT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNNT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia TNNT1 33
  • 99 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia TNNT1 33 32
  • 90.62 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia TNNT1 33 32
  • 89.51 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tnnt1 17 33 32
  • 86.16 (n)
rat
(Rattus norvegicus)
 Mammalia Tnnt1 32
  • 86.16 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia TNNT1 33
  • 78 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TNNT1 33
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia tnnt1 32
  • 73.69 (n)
zebrafish
(Danio rerio)
 Actinopterygii tnnt1 33
  • 69 (a)
 OneToOne
zgc:193865 32
  • 67.86 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.963 33
  • 47 (a)
 ManyToMany
CSA.10162 33
  • 44 (a)
 ManyToMany
Species where no ortholog for TNNT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TNNT1 Gene

ENSEMBL:
Gene Tree for TNNT1 (if available)
TreeFam:
Gene Tree for TNNT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNNT1: view image

Paralogs for TNNT1 Gene

Paralogs for TNNT1 Gene

(89) SIMAP similar genes for TNNT1 Gene using alignment to 14 proteins:

  • TNNT1_HUMAN
  • F5H1H4_HUMAN
  • K7EKB5_HUMAN
  • K7EKM3_HUMAN
  • K7ELB0_HUMAN
  • K7EQL4_HUMAN
  • M0QX01_HUMAN
  • M0QY38_HUMAN
  • M0QZU8_HUMAN
  • M0QZY5_HUMAN
  • Q05DL6_HUMAN
  • Q3B759_HUMAN
  • Q56R93_HUMAN
  • Q56R94_HUMAN
genes like me logo Genes that share paralogs with TNNT1: view

Variants for TNNT1 Gene

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Sequence variations from dbSNP and Humsavar for TNNT1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs112562759 not-provided, benign, likely-benign, not provided, not specified, Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive 55,147,019(-) T/C coding_sequence_variant, missense_variant
rs1156410888 likely-pathogenic, Nemaline myopathy 5 55,137,214(-) T/C splice_acceptor_variant
rs11669534 not-provided, benign, likely-benign, not provided, not specified, Nemaline Myopathy, Recessive 55,146,720(-) G/A/T intron_variant
rs138664823 uncertain-significance, likely-benign, Nemaline Myopathy, Recessive, not specified 55,134,051(-) G/A intron_variant
rs141774400 uncertain-significance, Nemaline Myopathy, Recessive, Nemaline myopathy 5, not provided 55,137,134(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TNNT1 Gene

Variant ID Type Subtype PubMed ID
esv1688462 CNV deletion 17803354
esv2308409 CNV deletion 18987734
esv2541049 CNV insertion 19546169
esv2675833 CNV deletion 23128226
esv2718954 CNV deletion 23290073
esv2718955 CNV deletion 23290073
esv2758772 CNV gain 17122850
esv34356 CNV gain 17911159
esv3644829 CNV gain 21293372
nsv1055961 CNV gain+loss 25217958
nsv1060034 CNV gain 25217958
nsv1071949 CNV deletion 25765185
nsv1140494 CNV deletion 24896259

Variation tolerance for TNNT1 Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.40; 54.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNNT1 Gene

Human Gene Mutation Database (HGMD)
TNNT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNNT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNT1 Gene

Disorders for TNNT1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for TNNT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 5
  • nem5
nemaline myopathy
  • nm
myopathy
  • muscular diseases
geniculate ganglionitis
  • facial nerve diseases
type 1 diabetes mellitus 3
  • diabetes mellitus, insulin-dependent, 3
- elite association - COSMIC cancer census association via MalaCards
Search TNNT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TNNT1_HUMAN
  • Nemaline myopathy 5 (NEM5) [MIM:605355]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 5 is a severe and progressive form common among Old Order Amish. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year. {ECO:0000269 PubMed:10952871}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TNNT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TNNT1: view

No data available for Genatlas for TNNT1 Gene

Publications for TNNT1 Gene

  1. Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T. (PMID: 10191089) Barton PJ … Yacoub MH (Genomics 1999) 3 4 23 56
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  3. Adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease. (PMID: 18579801) Larsson L … Jin JP (American journal of physiology. Cell physiology 2008) 3 23 56
  4. Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. (PMID: 15665378) Wang X … Jin JP (The Journal of biological chemistry 2005) 3 23 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

ExternalLinks

View latest publications for TNNT1 gene in Mastermind

Products for TNNT1 Gene

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