Gene Gene information from NCBI Gene database.
Entrez ID 7135
Gene name Troponin I1, slow skeletal type
Gene symbol TNNI1
Synonyms (NCBI Gene)
SSTNITNN1
Chromosome 1
Chromosome location 1q32.1
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 c
miRNA miRNA information provided by mirtarbase database.
256
miRTarBase ID miRNA Experiments Reference
MIRT016700 hsa-miR-335-5p Microarray 18185580
MIRT020440 hsa-miR-106b-5p Microarray 17242205
MIRT021876 hsa-miR-128-3p Microarray 17612493
MIRT1444029 hsa-miR-1228 CLIP-seq
MIRT1444030 hsa-miR-1253 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IBA
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 21988832, 25416956, 32296183
GO:0005829 Component Cytosol TAS
GO:0005861 Component Troponin complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191042 11945 ENSG00000159173
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19237
Protein name Troponin I, slow skeletal muscle (Troponin I, slow-twitch isoform)
Protein function Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00992 Troponin 15 146 Troponin Family
Tissue specificity 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 myo
Sequence
Sequence length 187
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Motor proteins
Cytoskeleton in muscle cells
  Striated Muscle Contraction
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHROGRYPOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TNNI1-related congenital myopathy Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome LHGDN 16236952
★☆☆☆☆
Found in Text Mining only
Coronary Stenosis Coronary Stenosis LHGDN 16358990
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 27437768
★☆☆☆☆
Found in Text Mining only
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation BEFREE 15289369
★☆☆☆☆
Found in Text Mining only