Homo sapiens Gene: TNNI3
Summary
InnateDB Gene IDBG-70218.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TNNI3
Gene Name troponin I type 3 (cardiac)
Synonyms CMD1FF; CMD2A; CMH7; cTnI; RCM1; TNNC1
Species Homo sapiens
Ensembl Gene ENSG00000129991
Encoded Proteins
troponin I type 3 (cardiac)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:55151767-55157773
Strand Reverse strand
Band q13.42
Transcripts
ENST00000344887 ENSP00000341838
ENST00000585806
ENST00000588882 ENSP00000466729
ENST00000590463
ENST00000586858 ENSP00000465258
ENST00000589864
ENST00000586669
ENST00000586446
ENST00000587176
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0019855 calcium channel inhibitor activity
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0030172 troponin C binding
GO:0031014 troponin T binding
GO:0046872 metal ion binding
GO:0048306 calcium-dependent protein binding
Biological Process
GO:0001570 vasculogenesis
GO:0001980 regulation of systemic arterial blood pressure by ischemic conditions
GO:0006874 cellular calcium ion homeostasis
GO:0006937 regulation of muscle contraction
GO:0006940 regulation of smooth muscle contraction
GO:0006941 striated muscle contraction
GO:0007507 heart development
GO:0030049 muscle filament sliding
GO:0032780 negative regulation of ATPase activity
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060047 heart contraction
GO:0060048 cardiac muscle contraction
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005861 troponin complex
GO:0030016 myofibril
GO:0030017 sarcomere
GO:0043292 contractile fiber
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Striated Muscle Contraction pathway
Muscle contraction pathway
KEGG
Hypertrophic cardiomyopathy (HCM) pathway
Cardiac muscle contraction pathway
Dilated cardiomyopathy pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000363
HUGO
OMIM
CCDS CCDS42628
HPRD 11769
IMGT
EMBL
GenPept
RNA Seq Atlas