Basic Information

Symbol
TNNT1
RNA class
mRNA
Alias
Troponin T1, Slow Skeletal Type TNT Slow Skeletal Muscle Troponin T STNT TNTS NEM5 ANM Troponin T Type 1 (Skeletal, Slow) Troponin T, Slow Skeletal Muscle MGC104241 FLJ98147 Troponin T1, Skeletal, Slow Troponin-T1, Skeletal, Slow Nemaline Myopathy Type 5 TnTs STnT
Location (GRCh38)
19:55132698-55149351
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Mechanical injury analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_003283.6
Sequence length
1111.0 nt
GC content
0.5770

Transcripts

ID Sequence Length GC content
NM_001126132.3 NCBI
AGCAAGGCUCAGCCUCAAGAUUCACAGCAUCUCAGACACAGCCUAGGCC… 1063 nt 0.5701
NM_001126133.3 NCBI
AGCAAGGCUCAGCCUCAAGAUUCACAGCAUCUCAGACACAGCCUAGGCC… 1030 nt 0.5641
NM_001291774.2 NCBI
AGCAAGGCUCAGCCUCAAGAUUCACAGCAUCUCAGACACAGCCUAGGUU… 1125 nt 0.5653
NM_003283.6 NCBI
AGCAAGGCUCAGCCUCAAGAUUCACAGCAUCUCAGACACAGCCUAGGCC… 1111 nt 0.5770
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]

Forensic Context

A study in pigs demonstrated that the TNNT1 was significantly upregulated in muscle tissue from the first area of impact in experimental bruises compared to other areas, indicating its role as a marker of tissue damage [Barington et al. DOI: 10.007/s12024-017-9869-2]. A study in pigs (Sus scrofa domesticus) demonstrated that the expression of the TNNT1 was measured in skeletal muscle (biceps femoris and longissimus dorsi) following a 3-day cold exposure, but no significant change in its expression was reported in the main experimental findings [Yang et al. DOI:10.3390/ijms24087431].