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 thereb... See more...

Aliases for TNNI1 Gene

Aliases for TNNI1 Gene

  • Troponin I1, Slow Skeletal Type 2 3 5
  • Troponin I Type 1 (Skeletal, Slow) 2 3
  • Troponin I, Slow Skeletal Muscle 3 4
  • Troponin I, Slow-Twitch Isoform 3 4
  • SSTNI 3
  • TNNI1 5
  • TNN1 3

External Ids for TNNI1 Gene

Previous GeneCards Identifiers for TNNI1 Gene

  • GC01M199081
  • GC01M196810
  • GC01M197839
  • GC01M198661
  • GC01M198106
  • GC01M199639
  • GC01M201372
  • GC01M172539

Summaries for TNNI1 Gene

Entrez Gene Summary for TNNI1 Gene

  • 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]

GeneCards Summary for TNNI1 Gene

TNNI1 (Troponin I1, Slow Skeletal Type) is a Protein Coding gene. Diseases associated with TNNI1 include Myasthenic Syndrome, Congenital, 20, Presynaptic and Atrophy Of Testis. Among its related pathways are Activation of cAMP-Dependent PKA and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is TNNI3.

UniProtKB/Swiss-Prot Summary for TNNI1 Gene

  • Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Gene Wiki entry for TNNI1 Gene

Additional gene information for TNNI1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNNI1 Gene

Genomics for TNNI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TNNI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J201419 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +4.6 4641 13.2 KDM1A ZNF692 RELA ZSCAN4 NR2C1 IKZF2 RCOR1 RELB RUNX3 NR2C2 TNNI1 TNNT2 ENSG00000224818 RPS10P7 ENSG00000227048 HSALNG0009644 lnc-PKP1-2 LOC101929367 LAD1
GH01J201394 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.9 +31.5 31480 7.7 HNRNPL CREB1 GATAD2A ATF7 TFE3 TARDBP ZHX2 ZIC2 RBFOX2 RXRB LAD1 ENSG00000282221 LOC101929343 TNNI1 IGFN1 PKP1 CSRP1 lnc-TNNI1-1 TNNT2
GH01J201403 Enhancer 1.1 ENCODE dbSUPER 21.5 +24.1 24074 4 HNRNPL GATAD2A TFE3 NFKBIZ BACH1 RELA ZIC2 RBFOX2 RXRB TCF12 TNNI1 PKP1 ENSG00000282221 LAD1 ENSG00000227048 lnc-PKP1-2
GH01J201408 Enhancer 0.8 ENCODE dbSUPER 5.2 +21.6 21564 0 CTCF TARDBP ZNF143 PATZ1 REST RAD21 TRIM22 SMARCA5 ZNF444 SMC3 PKP1 TNNI1 ENSG00000282221 LAD1 ENSG00000227048 lnc-PKP1-2
GH01J202001 Enhancer 0.3 dbSUPER 5.4 -572.3 -572321 0.8 CTCF MIR6740 RNPEP TIMM17A LMOD1 TNNI1 ELF3 ELF3-AS1 LOC112268254
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNNI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TNNI1

Top Transcription factor binding sites by QIAGEN in the TNNI1 gene promoter:
  • AP-4
  • AREB6
  • Evi-1
  • FOXC1
  • MZF-1
  • NF-1
  • NF-kappaB1
  • POU2F1
  • POU2F1a
  • RFX1

Genomic Locations for TNNI1 Gene

Genomic Locations for TNNI1 Gene
chr1:201,403,768-201,429,866
(GRCh38/hg38)
Size:
26,099 bases
Orientation:
Minus strand
chr1:201,372,895-201,398,994
(GRCh37/hg19)
Size:
26,100 bases
Orientation:
Minus strand

Genomic View for TNNI1 Gene

Genes around TNNI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNNI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNI1 Gene

Proteins for TNNI1 Gene

  • Protein details for TNNI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19237-TNNI1_HUMAN
    Recommended name:
    Troponin I, slow skeletal muscle
    Protein Accession:
    P19237
    Secondary Accessions:
    • A6NEH3
    • A8MSJ0
    • Q659A5
    • Q6FGS7
    • Q6FGW1
    • Q6ICU2
    • Q86T57
    • Q96DT9

    Protein attributes for TNNI1 Gene

    Size:
    187 amino acids
    Molecular mass:
    21692 Da
    Quaternary structure:
    • Binds to actin and tropomyosin.

neXtProt entry for TNNI1 Gene

Post-translational modifications for TNNI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TNNI1 Gene

No data available for DME Specific Peptides for TNNI1 Gene

Domains & Families for TNNI1 Gene

Gene Families for TNNI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TNNI1 Gene

InterPro:
Blocks:
  • Troponin
ProtoNet:

Suggested Antigen Peptide Sequences for TNNI1 Gene

GenScript: Design optimal peptide antigens:
  • Troponin I, slow-twitch isoform (TNNI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19237

UniProtKB/Swiss-Prot:

TNNI1_HUMAN :
  • Belongs to the troponin I family.
Family:
  • Belongs to the troponin I family.
genes like me logo Genes that share domains with TNNI1: view

Function for TNNI1 Gene

Molecular function for TNNI1 Gene

UniProtKB/Swiss-Prot Function:
Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
GENATLAS Biochemistry:
troponin I1,inhibitory subunit,component of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration,slow twitch skeletal muscle,also expressed in cartilage,acting as a potent and specific inhibitor of angiogenesis

Phenotypes From GWAS Catalog for TNNI1 Gene

Gene Ontology (GO) - Molecular Function for TNNI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 21988832
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TNNI1: view
genes like me logo Genes that share phenotypes with TNNI1: view

Animal Models for TNNI1 Gene

MGI Knock Outs for TNNI1:
  • Tnni1 Tnni1<tm3b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNI1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TNNI1 Gene

Localization for TNNI1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNNI1 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TNNI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IEA,IBA 21873635
genes like me logo Genes that share ontologies with TNNI1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNNI1 Gene

Pathways & Interactions for TNNI1 Gene

PathCards logo

SuperPathways for TNNI1 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Striated Muscle Contraction
3 Beta-Adrenergic Signaling
.37
4 Cardiac conduction
genes like me logo Genes that share pathways with TNNI1: view

Pathways by source for TNNI1 Gene

1 BioSystems pathway for TNNI1 Gene
2 Reactome pathways for TNNI1 Gene
5 Qiagen pathways for TNNI1 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Beta-Adrenergic Signaling
  • cAMP Pathway
  • PKA Signaling

Gene Ontology (GO) - Biological Process for TNNI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IBA 21873635
GO:0006936 muscle contraction IBA 21873635
GO:0006942 regulation of striated muscle contraction NAS 2365354
GO:0014883 transition between fast and slow fiber IEA --
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with TNNI1: view

No data available for SIGNOR curated interactions for TNNI1 Gene

Drugs & Compounds for TNNI1 Gene

(1) Drugs for TNNI1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with TNNI1: view

Transcripts for TNNI1 Gene

mRNA/cDNA for TNNI1 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNI1

Alternative Splicing Database (ASD) splice patterns (SP) for TNNI1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b
SP1: -
SP2: - - - - -
SP3:
SP4: - -
SP5:

Relevant External Links for TNNI1 Gene

GeneLoc Exon Structure for
TNNI1

Expression for TNNI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNNI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNNI1 Gene

This gene is overexpressed in Muscle - Skeletal (x50.1).

Protein differential expression in normal tissues from HIPED for TNNI1 Gene

This gene is overexpressed in Fetal heart (51.8) and Esophagus (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNNI1 Gene



Protein tissue co-expression partners for TNNI1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TNNI1

SOURCE GeneReport for Unigene cluster for TNNI1 Gene:

Hs.320890

mRNA Expression by UniProt/SwissProt for TNNI1 Gene:

P19237-TNNI1_HUMAN
Tissue specificity: Highest levels observed in human skeletal muscle (e.g. gastrocnemious muscle), differentiated cultures of primary human muscle cells and rhabdomyosarcoma cells cultured in low serum medium. Expressed in C2 muscle cell myoblasts and myotubes.

Evidence on tissue expression from TISSUES for TNNI1 Gene

  • Muscle(5)
  • Kidney(4.3)
  • Blood(4.3)
  • Heart(4.3)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with TNNI1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TNNI1 Gene

Orthologs for TNNI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNNI1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TNNI1 30 31
  • 99.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TNNI1 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TNNI1 30 31
  • 92.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TNNI1 30 31
  • 90.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tnni1 30
  • 90.02 (n)
Mouse
(Mus musculus)
Mammalia Tnni1 30 17 31
  • 89.66 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TNNI1 30 31
  • 80.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TNNI1 31
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100125108 30
  • 69.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397803 30
Zebrafish
(Danio rerio)
Actinopterygii tnni1a 31
  • 77 (a)
OneToMany
tnni1b 30 31
  • 74.73 (n)
OneToMany
tnni1d 31 31
  • 60 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11013 31
  • 44 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13140 30
Species where no ortholog for TNNI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TNNI1 Gene

ENSEMBL:
Gene Tree for TNNI1 (if available)
TreeFam:
Gene Tree for TNNI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNNI1: view image

Paralogs for TNNI1 Gene

Paralogs for TNNI1 Gene

(2) SIMAP similar genes for TNNI1 Gene using alignment to 4 proteins:

  • TNNI1_HUMAN
  • G3V3L5_HUMAN
  • G3V489_HUMAN
  • G3V4F8_HUMAN
genes like me logo Genes that share paralogs with TNNI1: view

Variants for TNNI1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TNNI1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2296695 - p.Arg67Trp

Additional dbSNP identifiers (rs#s) for TNNI1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TNNI1 Gene

Variant ID Type Subtype PubMed ID
esv3588570 CNV loss 21293372
nsv4065 CNV insertion 18451855
nsv467961 CNV gain 19166990
nsv470776 CNV gain 18288195
nsv508687 CNV deletion 20534489
nsv522795 CNV loss 19592680
nsv548997 CNV gain 21841781
nsv832315 CNV loss 17160897
nsv832326 CNV loss 17160897
nsv947466 CNV duplication 23825009

Variation tolerance for TNNI1 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNNI1 Gene

Human Gene Mutation Database (HGMD)
TNNI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNNI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNI1 Gene

Disorders for TNNI1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TNNI1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TNNI1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TNNI1

genes like me logo Genes that share disorders with TNNI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TNNI1 Gene

Publications for TNNI1 Gene

  1. Structure and expression of the human slow twitch skeletal muscle troponin I gene. (PMID: 8144655) Corin SJ … Wade R (The Journal of biological chemistry 1994) 2 3 4
  2. cDNA sequence, tissue-specific expression, and chromosomal mapping of the human slow-twitch skeletal muscle isoform of troponin I. (PMID: 2365354) Wade R … Kedes L (Genomics 1990) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer. (PMID: 12857748) Polly P … Hardeman EC (The Journal of biological chemistry 2003) 3 23

Products for TNNI1 Gene

Sources for TNNI1 Gene