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Aliases for TNNT1 Gene

Aliases for TNNT1 Gene

  • Troponin T1, Slow Skeletal Type 2 3
  • Troponin T Type 1 (Skeletal, Slow) 2 3 5
  • Slow Skeletal Muscle Troponin T 2 3 4
  • STNT 3 4
  • TNTS 3 4
  • TNT 3 4
  • Troponin-T1, Skeletal, Slow 3
  • Nemaline Myopathy Type 5 2
  • Troponin T1 2
  • Skeletal 2
  • Slow 2
  • NEM5 3
  • 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, amish type and tnnt1-related nemaline myopathy. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. GO annotations related to this gene include tropomyosin binding and troponin T binding. An important paralog of this gene is TNNT2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNT1 Gene

Genomics for TNNT1 Gene

Regulatory Elements for TNNT1 Gene

Promoters for TNNT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TNNT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TNNT1 Gene

Chromosome:
19
Start:
55,132,698 bp from pter
End:
55,149,354 bp from pter
Size:
16,657 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 StructureGene Density

RefSeq DNA sequence for TNNT1 Gene

Proteins for TNNT1 Gene

  • 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

Proteomics data for TNNT1 Gene at MOPED

Post-translational modifications for TNNT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for TNNT1 Gene

Domains & Families for TNNT1 Gene

Gene Families for TNNT1 Gene

Protein Domains for TNNT1 Gene

InterPro:
Blocks:
ProtoNet:

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

Molecular function for TNNT1 Gene

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
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.

Phenotypes for TNNT1 Gene

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for TNNT1 Gene

Localization for TNNT1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNNT1 Gene COMPARTMENTS Subcellular localization image for TNNT1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
golgi apparatus 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TNNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005861 troponin complex IEA,IMP 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

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:0045932 negative regulation of muscle contraction IDA 18032382
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(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

Unigene Clusters for TNNT1 Gene

Troponin T type 1 (skeletal, slow):
Representative Sequences:

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

mRNA expression in normal human tissues 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, PaxDb, and MOPED for TNNT1 Gene



SOURCE GeneReport for Unigene cluster for TNNT1 Gene Hs.631558

genes like me logo Genes that share expression patterns with TNNT1: view

Protein tissue co-expression partners for TNNT1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNNT1 36
  • 97 (a)
OneToOne
TNNT1 35
  • 90.62 (n)
  • 98.21 (a)
dog
(Canis familiaris)
Mammalia TNNT1 35
  • 89.51 (n)
  • 96.71 (a)
TNNT1 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnnt1 16
Tnnt1 36
  • 91 (a)
OneToOne
Tnnt1 35
  • 86.16 (n)
  • 96.43 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia TNNT1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnnt1 35
  • 86.16 (n)
  • 96.43 (a)
lizard
(Anolis carolinensis)
Reptilia TNNT1 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnnt1 35
  • 73.69 (n)
  • 86.55 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:193865 35
  • 67.86 (n)
  • 75.34 (a)
tnnt1 36
  • 69 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10162 36
  • 44 (a)
ManyToMany
CSA.963 36
  • 47 (a)
ManyToMany
Species with no ortholog for TNNT1:
  • 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)

Paralogs for TNNT1 Gene

Paralogs for TNNT1 Gene

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

Variants for TNNT1 Gene

Sequence variations from dbSNP and Humsavar for TNNT1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2742060 -- 55,139,319(-) aatta(C/T)agcag intron-variant
rs2434453 -- 55,145,750(-) TACAG(C/G)CACCC intron-variant
rs2434454 -- 55,145,673(-) CCTGG(G/T)GTCCT intron-variant
rs2434455 -- 55,142,748(-) cggca(C/T)ggtga intron-variant
rs3842419 -- 55,150,014(+) GTGCA(-/T)TTCTC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1131e1 CNV Complex 17122850
esv34356 CNV Gain 17911159
dgv4015n71 CNV Loss 21882294
nsv912451 CNV Loss 21882294
esv2541049 CNV Insertion 19546169
esv2718954 CNV Deletion 23290073
esv2675833 CNV Deletion 23128226
esv2308409 CNV Deletion 18987734
esv2718955 CNV Deletion 23290073
esv1688462 CNV Deletion 17803354

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)

Relevant External Links for TNNT1 Gene

HapMap Linkage Disequilibrium report
TNNT1
Human Gene Mutation Database (HGMD)
TNNT1

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

Disorders for TNNT1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TNNT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 5, amish type
  • nemaline myopathy, amish type
tnnt1-related nemaline myopathy
  • amish nemaline myopathy
nemaline myopathy 8, autosomal recessive
  • nemaline myopathy 8
nemaline myopathy 10
  • nem10
pectus carinatum
  • carinatum deformity of the chest
- 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.

Relevant External Links for TNNT1

Genetic Association Database (GAD)
TNNT1
Human Genome Epidemiology (HuGE) Navigator
TNNT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNNT1
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 P.J.R. … Yacoub M.H. (Genomics 1999) 3 4 23 67
  2. 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 J.P. (Am. J. Physiol., Cell Physiol. 2008) 3 23
  3. Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. (PMID: 15665378) Wang X. … Jin J.P. (J. Biol. Chem. 2005) 3 23
  4. Congenital myopathies: diseases of the actin cytoskeleton. (PMID: 15495263) Clarkson E. … Machesky L.M. (J. Pathol. 2004) 3 23
  5. A recombinant monocysteine mutant (Ser to Cys-155) of fast skeletal troponin T: identification by cross-linking of a domain involved in a physiologically relevant interaction with troponins C and I. (PMID: 9724539) Jha P.K. … Sarkar S. (Biochemistry 1998) 3 23

Products for TNNT1 Gene

Sources for TNNT1 Gene

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