TNNI3
Sign in to saveAlso known as CMD1FF, CMD2A, CMH7, RCM1, TNNC1, cTnI, troponin I3, cardiac type, cardiac troponin I
Troponin I, cardiac muscle is a protein that in humans is encoded by the TNNI3 gene. It is a tissue-specific subtype of troponin I, which in turn is a part of the troponin complex.
Gene data
TNNI3- Name
- troponin I3, cardiac type
- Type
- protein-coding
- Position
- 55,151,763–55,157,774 (−)
- Aliases
- CMD1FF, CMD2A, CMH7, RCM1, TNNC1, cTnI
- Ensembl
- ENSG00000129991
- RefSeq RNA
- NM_000363.5
- RefSeq protein
- NP_000354.4
Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
troponin I3, cardiac type
- Symbol
- TNNI3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:55,151,763-55,157,774
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein TNNI3 PDB 1j1d.png
Show 8 more facts
- HomoloGene ID
- 309
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/7137
- genomic end
- 55669141
- genomic start
- 55663137
- chromosome
- human chromosome 19
- cytogenetic location
- 19q13.42
- genetic association
- hypertrophic cardiomyopathy
via Wikidata · CC0
~13 min read
Encyclopedic overview
14 sectionsContents
- Gene evolution
- Tissue distribution
- Protein structure
- Posttranslational modifications
- Pathologic mutations
- Clinical implications
- High-sensitivity troponin I testing
- Prognostic use
- Indications for testing
- Lateral-flow test
- Notes
- References
- Further reading
- External links
Troponin I, cardiac muscle is a protein that in humans is encoded by the TNNI3 gene. It is a tissue-specific subtype of troponin I, which in turn is a part of the troponin complex.
The TNNI3 gene encoding cardiac troponin I (cTnI) is located at 19q13.4 in the human chromosomal genome. Human cTnI is a 24 kDa protein consisting of 210 amino acids with isoelectric point (pI) of 9.87. cTnI is exclusively expressed in adult cardiac muscle.
Excerpted from Wikipedia’s “TNNI3” article, available under the CC BY-SA 4.0 licence.