TNNI3 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | TNNI3 |
| Official Name | troponin I3, cardiac type [Source:HGNC Symbol;Acc:HGNC:11947] |
| Ensembl ID | ENSG00000129991 |
| Bio databases IDs | |
| Aliases | troponin I3, cardiac type |
| Synonyms | CARDIAC TROPONIN I, CMD1FF, CMD2A, CMH7, cTNI, CTnT1, RCM1, Tn1, TnI, TNNC1, Troponin I, troponin I3, cardiac type, troponin I, cardiac 3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TNNI3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- calcium-dependent protein binding
- calcium channel inhibitor
- protein kinase binding
- Troponin I residues 1-32
- inhibitory domain
- troponin C binding
- protein domain specific binding
- protein binding
- phosphorylation site
- actin filament binding
- Troponin
- cytoskeletal protein binding
- actin binding
- transporter
Pathways
Biological processes and signaling networks where the TNNI3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- streptozotocin-induced diabetes
- dilated cardiomyopathy type 1FF
- rheumatoid arthritis
- familial hypertrophic cardiomyopathy type 7
- hypertrophic cardiomyopathy
- primary dilated cardiomyopathy
- cardiomyopathy
- ischemic stroke
- familial restrictive cardiomyopathy 1
role in cell
- morphology
- apoptosis
- contraction
- relaxation
- abnormal morphology
- desensitization
- tension
- force relaxation
- force generation
- isometric tension
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cell surface
- intracellular space
- cellular membrane
- Plasma Membrane
- myofilaments
- sarcomere
- cytosol
- myofibrils
- I band
- actin stress fibers
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TNNI3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- heart contraction
- negative regulation of ATPase activity
- skeletal muscle contraction
- ventricular cardiac muscle tissue morphogenesis
- vasculogenesis
- cardiac muscle contraction
- regulation of cardiac muscle contraction by calcium ion signaling
- regulation of systemic arterial blood pressure by ischemic conditions
- cellular calcium ion homeostasis
- regulation of smooth muscle contraction
Cellular Component
Where in the cell the gene product is active
- cytosol
- troponin complex
- sarcomere
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein kinase binding
- protein domain specific binding
- protein binding
- troponin C binding
- actin binding
- calcium-dependent protein binding
- troponin T binding
- calcium channel inhibitor activity