Basic information
Biomarker: TNNT1
Biomarker subtype: gene
Clinical application: diagnosis(MT-EC(containing endometrioid and serous differentiation))
Histology type: rare type
Cohort characteristics
Country: USA
Region: Los Angeles
| Total number | Group I | Group I number | Group II | Group II number | Group III | Group III number | Group IV | Group IV number |
|---|---|---|---|---|---|---|---|---|
| 20 | MT-EC(Containing endometrioid and serous differentiation) | 10 | low-grade endometrioid adenocarcinomaEAC | 5 | pure uterine serous carcinoma | 5 |
Sample information
Sample type : tissue
Clinical method: Immunohistochemistry,Sample selection and RNA extraction,Gene expression analysis,
Expression pattern : differentially expressed
Disease information
Related information
Description: Novel specifici markers of MT-EC could be of diagnostic utility and could represent novel therapeutic targets in the future.
Expression figure legend: H&E stained sections of USC and EAC region within an MT-EC (Patient 5).
Expression figure link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4488511/figure/pone.0130909.g001/
Approved symbol: TNNT1
Approved name: troponin T1, slow skeletal type
Locus type: gene with protein product
HGNC ID: HGNC:11948
HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11948
Symbol status: Approved
Alias symbols: ANM STNT TNT TNTS FLJ98147 MGC104241 NEM5
OMIM: 191041
Omim link: https://www.omim.org/entry/191041
NCBI name: 7138
NCBI link: https://www.ncbi.nlm.nih.gov/gene/7138
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]
Expression: Biased expression in esophagus (RPKM 142.1), prostate (RPKM 132.0) and 2 other tissues
NCBI gene expression https://www.ncbi.nlm.nih.gov/gene/7138#gene-expression
PDB ID: P13805
PDB link: https://alphafold.ebi.ac.uk/entry/P13805
