TNNI1 (troponin I1, slow skeletal type)

2019-04-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
SSTNI,TNN1
FUSION GENES

Other Information

Locus ID:

NCBI: 7135
MIM: 191042
HGNC: 11945
Ensembl: ENSG00000159173

Variants:

dbSNP: 7135
ClinVar: 7135
TCGA: ENSG00000159173
COSMIC: TNNI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159173ENST00000336092P19237
ENSG00000159173ENST00000361379P19237
ENSG00000159173ENST00000367312P19237
ENSG00000159173ENST00000555340G3V489
ENSG00000159173ENST00000555948G3V3L5
ENSG00000159173ENST00000556362G3V4F8
ENSG00000159173ENST00000622580A0A087WT47

Expression (GTEx)

0
100
200
300
400
500
600
700

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
223741832012Cardiac biomarkers are associated with an increased risk of stroke and death in patients with atrial fibrillation: a Randomized Evaluation of Long-term Anticoagulation Therapy (RE-LY) substudy.67
160050172005A mutation in the N-terminus of troponin I that is associated with hypertrophic cardiomyopathy affects the Ca(2+)-sensitivity, phosphorylation kinetics and proteolytic susceptibility of troponin.27
162369522005Myocardial injury in critically ill patients: relation to increased cardiac troponin I and hospital mortality.18
128577482003hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer.16
170992502007Identification of a region of troponin I important in signaling cross-bridge-dependent activation of cardiac myofilaments.15
128150452003Role of troponin I phosphorylation in protein kinase C-mediated enhanced contractile performance of rat myocytes.13
269726312016Relations of circulating GDF-15, soluble ST2, and troponin-I concentrations with vascular function in the community: The Framingham Heart Study.13
163382622005Relationship between anemia, cardiac troponin I, and B-type natriuretic peptide levels and mortality in patients with advanced heart failure.7
152893692004Troponin I isoform expression in human and experimental atrial fibrillation.5
208175902010Analysis of the sarcomere protein gene mutation on cardiomyopathy - Mutations in the cardiac troponin I gene.5

Citation

Dessen P

TNNI1 (troponin I1, slow skeletal type)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57856/tnni1