TNNT1 (troponin T1, slow skeletal type)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7138
Gene name Gene Name - the full gene name approved by the HGNC.
Troponin T1, slow skeletal type
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNNT1
Synonyms (NCBI Gene) Gene synonyms aliases
ANM, NEM5, STNT, TNT, TNTS
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.42
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration.
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs80358249 C>A Not-provided, pathogenic Coding sequence variant, stop gained
rs727504177 G>C Pathogenic Stop gained, coding sequence variant
rs944152647 CTC>- Uncertain-significance, pathogenic Coding sequence variant, splice donor variant
rs1156410888 T>C Likely-pathogenic Splice acceptor variant
rs1555859304 ->G Pathogenic Frameshift variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IMP 10952871
GO:0005515 Function Protein binding IPI 21516116, 25416956, 25910212, 31515488, 32296183
GO:0005523 Function Tropomyosin binding IBA
GO:0005523 Function Tropomyosin binding IMP 15665378
GO:0005523 Function Tropomyosin binding IPI 35510366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191041 11948 ENSG00000105048
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P13805
Protein name Troponin T, slow skeletal muscle (TnTs) (Slow skeletal muscle troponin T) (sTnT)
Protein function Troponin T is the tropomyosin-binding 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 69 → 205 Troponin Family
Sequence 
MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSRPVVPPLIPPKIPEGER
VDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEK
ERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGRE
MKVRILSERKKPLDIDYMGEEQLRARSAWLPPSQPSCPAREKAQELSDWIHQLESEKFDL
MAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK
Sequence length 278
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Motor proteins
Cytoskeleton in muscle cells 		  Striated Muscle Contraction
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nemaline myopathy nemaline myopathy 5 rs1555859304, rs2085385176, rs1156410888, rs1599875856, rs2085439767, rs2085575423, rs80358249, rs1555855228 N/A
Show/Hide Text Mining Associations (40)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 29217433
Arthrogryposis Associate 31680123
Atrial Fibrillation Associate 24700386
Breast Neoplasms Associate 31830337
Carcinoma Endometrioid Associate 26132201
Carcinoma Renal Cell Associate 39331921
Cardiomyopathies Associate 28973951, 30395933
Cardiomyopathies Stimulate 37400933
Cardiomyopathy Dilated Associate 28973951, 30395933, 31937807, 34482543, 37313752, 37400933
Cardiomyopathy Hypertrophic Associate 20057144, 29217433