TNNI1 troponin I1, slow skeletal type [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNNI1provided by HGNC
Official Full Name: troponin I1, slow skeletal typeprovided by HGNC
Primary source: HGNC:HGNC:11945
See related: Ensembl:ENSG00000159173 MIM:191042; AllianceGenome:HGNC:11945
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: TNN1; SSTNI
Summary: Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. 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. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq, Jul 2008]
Expression: Biased expression in esophagus (RPKM 22.0), prostate (RPKM 20.7) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (201403784..201421730, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (200661585..200679520, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (201372912..201390858, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Title: Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy.
Title: Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy.
Postoperative troponin increases after noncardiac surgery are associated with raised neurofilament light: a prospective observational cohort study.
Title: Postoperative troponin increases after noncardiac surgery are associated with raised neurofilament light: a prospective observational cohort study.
Cardiac Troponin I Is an Independent Predictor for Mortality in Hospitalized Patients With COVID-19.
Title: Cardiac Troponin I Is an Independent Predictor for Mortality in Hospitalized Patients With COVID-19.
Troponin I levels at intensive care unit admission are a strong independent predictor of dialysis needs in sepsis.
Title: Troponin I at admission in the intensive care unit predicts the need of dialysis in septic patients.
Studied use of serum levels of Troponin I as a predictive biomarker for diagnosis of left ventricular systolic dysfunction after anthracycline treatment in breast cancer.
Title: Left Ventricular Systolic Dysfunction Predicted By Early Troponin I Release After Anthracycline Based Chemotherapy In Breast Cancer Patients.
Ultrasensitive troponin I was detectable in almost all individuals of a study sample reflecting middle-aged to elderly European general population. Ultrasensitive troponin concentrations exhibit an independent, graded, positive relation with incident CHD [coronary heart disease].
Title: Ultra-sensitive troponin I is an independent predictor of incident coronary heart disease in the general population.
Measuring mean platelet volume in conjunction with troponin I levels improves the diagnostic value of troponin I in acute coronary syndrome.
Title: Diagnostic Value of Mean Platelet Volume Combined With Troponin I for Acute Coronary Syndrome.
GDF-15, sST2, and hs-TnI are associated with incident cardiovascular disease and heart failure
Title: Relations of circulating GDF-15, soluble ST2, and troponin-I concentrations with vascular function in the community: The Framingham Heart Study.
CT-1 was found to be associated with Tn-I, which is used to detect myocardial damage after OPCAB surgery. CT-1 may also be used to detect myocardial damage.
Title: The relationship between cardiotrophin-1 and troponin-i in coronary arterial bypass grafting on the beating heart: a prospective study.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76130 (e-PCR)
- UniSTS:70914

TNNI1 (e-PCR)
- UniSTS:506439

D1S2034E (e-PCR)
- UniSTS:42072

D15S1477 (e-PCR)
- UniSTS:474482

D1S1723 (e-PCR)
- UniSTS:3446

RH64709 (e-PCR)
- UniSTS:54446

SHGC-52392 (e-PCR)
- UniSTS:45487

RH41799 (e-PCR)
- UniSTS:4319

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of striated muscle contraction	NAS Non-traceable Author Statement more info	PubMed
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in transition between fast and slow fiber	IEA Inferred from Electronic Annotation more info
involved_in ventricular cardiac muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
part_of troponin complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: troponin I, slow skeletal muscle

Names: troponin I type 1 (skeletal, slow)

NCBI Reference Sequences (RefSeq)

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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.