Human Gene TNNT1 (ENST00000588981.6_9) from GENCODE V47lift37
  Description: troponin T1, slow skeletal type, transcript variant 1 (from RefSeq NM_003283.6)
Gencode Transcript: ENST00000588981.6_9
Gencode Gene: ENSG00000105048.18_17
Transcript (Including UTRs)
   Position: hg19 chr19:55,644,066-55,660,574 Size: 16,509 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr19:55,644,283-55,658,525 Size: 14,243 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:55,644,066-55,660,574)mRNA (may differ from genome)Protein (278 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Human Cortex Gene ExpressionMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TNNT1_HUMAN
DESCRIPTION: RecName: Full=Troponin T, slow skeletal muscle; Short=TnTs; AltName: Full=Slow skeletal muscle troponin T; Short=sTnT;
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.
DISEASE: Defects in TNNT1 are the cause of nemaline myopathy type 5 (NEM5) [MIM:605355]; also known as Amish nemaline myopathy (ANM). A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like 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.
SIMILARITY: Belongs to the troponin T family.
SEQUENCE CAUTION: Sequence=AAH22086.2; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNNT1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TNNT1
Diseases sorted by gene-association score: nemaline myopathy 5, amish type* (1250), tnnt1-related nemaline myopathy* (500), nemaline myopathy (28), leukorrhea (15), pectus carinatum (13), myopathy (13), diabetes mellitus, insulin-dependent, 3 (11), restrictive cardiomyopathy (7), intermediate coronary syndrome (6), retinitis pigmentosa-40 (6), congenital structural myopathy (5), primary cutaneous amyloidosis (4), myocardial infarction (1), dilated cardiomyopathy (1), cardiomyopathy, familial hypertrophic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2311.10 RPKM in Muscle - Skeletal
Total median expression: 2449.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.0057-0.158 Picture PostScript Text
3' UTR -63.10217-0.291 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001978 - Troponin

Pfam Domains:
PF00992 - Troponin

SCOP Domains:
90250 - Troponin coil-coiled subunits

ModBase Predicted Comparative 3D Structure on P13805
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005523 tropomyosin binding
GO:0031014 troponin T binding

Biological Process:
GO:0003009 skeletal muscle contraction
GO:0006937 regulation of muscle contraction
GO:0014883 transition between fast and slow fiber
GO:0030049 muscle filament sliding
GO:0031444 slow-twitch skeletal muscle fiber contraction
GO:0045932 negative regulation of muscle contraction

Cellular Component:
GO:0005829 cytosol
GO:0005861 troponin complex


-  Descriptions from all associated GenBank mRNAs
  AK308199 - Homo sapiens cDNA, FLJ98147.
M19309 - Human slow skeletal muscle troponin T mRNA, clone H22h.
BC022086 - Homo sapiens troponin T type 1 (skeletal, slow), mRNA (cDNA clone IMAGE:3531880), partial cds.
BC010963 - Homo sapiens troponin T type 1 (skeletal, slow), mRNA (cDNA clone MGC:13666 IMAGE:4291828), complete cds.
S51938 - troponin T [human, muscles, mRNA Partial, 855 nt].
S69208 - troponin T [human, skeletal and cardiac muscle, mRNA, 932 nt].
S69209 - troponin T slow isoform {alternatively spliced} [human, skeletal and cardiac muscle, mRNA, 899 nt].
AK291352 - Homo sapiens cDNA FLJ75373 complete cds, highly similar to Homo sapiens troponin T type 1 (skeletal, slow), mRNA.
BC107798 - Homo sapiens troponin T type 1 (skeletal, slow), mRNA (cDNA clone MGC:104241 IMAGE:4247379), complete cds.
M19308 - Human slow skeletal muscle troponin T mRNA, clone M1.
BC034143 - Homo sapiens troponin T type 1 (skeletal, slow), mRNA (cDNA clone MGC:32755 IMAGE:4328089), complete cds.
JD405788 - Sequence 386812 from Patent EP1572962.
AY762903 - Homo sapiens nemaline myopathy mutant slow skeletal muscle troponin T high molecular weight variant (TNNT1) mRNA, complete cds, alternatively spliced.
AY762904 - Homo sapiens nemaline myopathy mutant slow skeletal muscle troponin T low molecular weight variant (TNNT1) mRNA, complete cds, alternatively spliced.
KJ892298 - Synthetic construct Homo sapiens clone ccsbBroadEn_01692 TNNT1 gene, encodes complete protein.
BT019630 - Homo sapiens troponin T1, skeletal, slow mRNA, complete cds.
BC007074 - Homo sapiens troponin T type 1 (skeletal, slow), mRNA (cDNA clone IMAGE:4293359), partial cds.
JD458200 - Sequence 439224 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P13805 (Reactome details) participates in the following event(s):

R-HSA-390595 Calcium Binds Troponin-C
R-HSA-390597 Release Of ADP From Myosin
R-HSA-390593 ATP Hydrolysis By Myosin
R-HSA-390598 Myosin Binds ATP
R-HSA-390522 Striated Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000588981.1, ENST00000588981.2, ENST00000588981.3, ENST00000588981.4, ENST00000588981.5, NM_003283, O95472, P13805, Q16061, Q5U0E1, TNNT1_HUMAN, TNT, uc326tgc.1, uc326tgc.2
UCSC ID: ENST00000588981.6_9
RefSeq Accession: NM_003283.6
Protein: P13805 (aka TNNT1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.