Human Gene TNNT1 (ENST00000291901.12) from GENCODE V44
Description: Homo sapiens troponin T1, slow skeletal type (TNNT1), transcript variant 2, mRNA. (from RefSeq NM_001126132) RefSeq Summary (NM_001126132): 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]. Gencode Transcript: ENST00000291901.12 Gencode Gene: ENSG00000105048.18 Transcript (Including UTRs) Position: hg38 chr19:55,132,794-55,149,206 Size: 16,413 Total Exon Count: 14 Strand: - Coding Region Position: hg38 chr19:55,132,915-55,147,157 Size: 14,243 Coding Exon Count: 13
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";
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.
ModBase Predicted Comparative 3D Structure on P13805
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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.
US Server
