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TNNI3 troponin I type 3 (cardiac) [ Homo sapiens (human) ]

Gene ID: 7137, updated on 19-Jul-2014
Official Symbol
TNNI3provided by HGNC
Official Full Name
troponin I type 3 (cardiac)provided by HGNC
Primary source
HGNC:11947
See related
Ensembl:ENSG00000129991; HPRD:11769; MIM:191044; Vega:OTTHUMG00000180589
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMH7; RCM1; cTnI; CMD2A; TNNC1; CMD1FF
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]
See TNNI3 in Epigenomics, MapViewer
Location:
19q13.4
Exon count :
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (55151767..55157732, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55663135..55669100, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene microRNA 7975 Neighboring gene troponin T type 1 (skeletal, slow) Neighboring gene uncharacterized LOC101930593 Neighboring gene dynein, axonemal, assembly factor 3 Neighboring gene uncharacterized LOC102724352 Neighboring gene synaptotagmin V

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TNNI3 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Dilated cardiomyopathy 1FF
MedGen: C2750091 OMIM: 613286 GeneReviews: Not available
Compare labs
Dilated cardiomyopathy 2A Compare labs
Familial hypertrophic cardiomyopathy 7
MedGen: CN069699 OMIM: 613690 GeneReviews: Not available
Compare labs
Familial restrictive cardiomyopathy 1
MedGen: C1861861 OMIM: 115210 GeneReviews: Not available
Compare labs
  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
    Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
  • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
    Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Cardiac muscle contraction, conserved biosystem (from KEGG)
    Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: DNAAF3

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium channel inhibitor activity IPI
Inferred from Physical Interaction
more info
PubMed 
calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
troponin C binding IPI
Inferred from Physical Interaction
more info
PubMed 
troponin T binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
heart contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle filament sliding TAS
Traceable Author Statement
more info
 
negative regulation of ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
regulation of systemic arterial blood pressure by ischemic conditions ISS
Inferred from Sequence or Structural Similarity
more info
 
vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
sarcomere TAS
Traceable Author Statement
more info
PubMed 
troponin complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
troponin I, cardiac muscle
Names
troponin I, cardiac muscle
cardiomyopathy, dilated 2A (autosomal recessive)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007866.2 

    Range
    5001..10966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_432

mRNA and Protein(s)

  1. NM_000363.4NP_000354.4  troponin I, cardiac muscle

    See proteins identical to NP_000354.4

    Status: REVIEWED

    Source sequence(s)
    AK223451
    Consensus CDS
    CCDS42628.1
    UniProtKB/Swiss-Prot
    P19429
    UniProtKB/TrEMBL
    Q6FGX2
    Related
    ENSP00000341838, OTTHUMP00000264736, ENST00000344887, OTTHUMT00000452098
    Conserved Domains (2) summary
    pfam11636
    Location:131
    Blast Score: 82
    Troponin-I_N; Troponin I residues 1-32
    pfam00992
    Location:72160
    Blast Score: 281
    Troponin; Troponin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    55151767..55157732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    51986278..51992090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    55656700..55662665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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