Gene Gene information from NCBI Gene database.
Entrez ID 7168
Gene name Tropomyosin 1
Gene symbol TPM1
Synonyms (NCBI Gene)
C15orf13CMD1YCMH3HEL-S-265HTM-alphaLVNC9TMSA
Chromosome 15
Chromosome location 15q22.2
Summary This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha
SNPs SNP information provided by dbSNP.
55
SNP ID Visualize variation Clinical significance Consequence
rs104894501 G>A,C,T Uncertain-significance, pathogenic Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, 5 prime UTR variant, intron variant
rs104894502 A>G,T Not-provided, pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs104894503 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs104894504 T>C Likely-pathogenic, pathogenic Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs104894505 G>A Pathogenic-likely-pathogenic, pathogenic Coding sequence variant, missense variant, genic upstream transcript variant, 5 prime UTR variant, intron variant
miRNA miRNA information provided by mirtarbase database.
366
miRTarBase ID miRNA Experiments Reference
MIRT001980 hsa-miR-21-5p Luciferase reporter assayWestern blot 17363372
MIRT001980 hsa-miR-21-5p Review 19935707
MIRT001980 hsa-miR-21-5p Luciferase reporter assay 18270520
MIRT001980 hsa-miR-21-5p Luciferase reporter assay 17363372
MIRT001980 hsa-miR-21-5p Review 20130964
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IDA 12686598
GO:0003065 Process Positive regulation of heart rate by epinephrine ISS 17556658
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding TAS 12686598
GO:0005200 Function Structural constituent of cytoskeleton TAS 12686598
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191010 12010 ENSG00000140416
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09493
Protein name Tropomyosin alpha-1 chain (Alpha-tropomyosin) (Tropomyosin-1)
Protein function Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth mu
PDB 3MUD , 5KHT , 6UT2 , 6X5Z , 7UTI , 7UTL , 8EFH , 8EFI , 8ENC , 8ZB7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00261 Tropomyosin 48 284 Tropomyosin Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Detected in primary breast cancer tissues but undetectable in normal breast tissues in Sudanese patients. Isoform 1 is expressed in adult and fetal skeletal muscle and cardiac tissues, with higher expression levels in the cardiac tissu
Sequence
Sequence length 284
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1249
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrial septal defect 1 Likely pathogenic rs1114167356 RCV000491210
Cardiomyopathy Pathogenic; Likely pathogenic rs104894503, rs199476315, rs199476316, rs397516373, rs397516386, rs397516363, rs1596386673, rs2031437544 RCV001170568
RCV003149576
RCV000144848
RCV000722121
RCV000159384
RCV000852460
RCV000852462
RCV001170563
Cardiovascular phenotype Likely pathogenic; Pathogenic rs754664923, rs104894503, rs104894504, rs199476305, rs199476306, rs199476315, rs199476316 RCV000242724
RCV000622165
RCV000619092
RCV004686570
RCV000619544
RCV002345253
RCV000617620
Dilated cardiomyopathy 1Y Likely pathogenic; Pathogenic rs2140963813, rs886037905, rs754664923, rs104894503, rs1206044252, rs199476316, rs199476317, rs199476311, rs397516373 RCV001594460
RCV000240649
RCV005208131
RCV001197088
RCV004017198
RCV001594373
RCV000850515
RCV001331475
RCV000679884
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dilated Cardiomyopathy, Dominant Uncertain significance; Likely benign; Benign rs886051321, rs138843544, rs747523720, rs17525848 RCV000317834
RCV000390726
RCV000384819
RCV000337233
Gastric cancer Conflicting classifications of pathogenicity rs202228866 RCV005888494
Hypertrophic cardiomyopathy 21 Uncertain significance rs397516391 RCV003447482
Left ventricular noncompaction Likely benign rs371934474 RCV000624321
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Apical Hypertrophic Cardiomyopathy Associate 15556047, 29626422, 32882290
Arrhythmias Cardiac Associate 29361520
Carcinoma Hepatocellular Associate 34116652, 34850589
Carcinoma Squamous Cell Associate 32991423
Cardiomegaly Associate 12651045, 34319370
Cardiomyopathies Associate 25548289, 29626422, 32882290, 35917600, 37569730
Cardiomyopathy Associated With Myopathy And Sudden Death Associate 33642254
Cardiomyopathy Dilated Associate 11106718, 15556047, 16043485, 20117437, 23147248, 25548289, 26400351, 31689804, 32882290, 33020181, 35176663, 35917600, 36739943, 37313752
Cardiomyopathy Familial Restrictive 1 Associate 32882290
Cardiomyopathy Hypertrophic Associate 12679389, 16043485, 20117437, 21835320, 22447464, 23147248, 25548289, 26960954, 29361520, 29974557, 30775854, 32744700, 33642254, 34319370, 35917600
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