Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7168
Gene name Gene Name - the full gene name approved by the HGNC.
Tropomyosin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPM1
Synonyms (NCBI Gene) Gene synonyms aliases
C15orf13, CMD1Y, CMH3, HEL-S-265, HTM-alpha, LVNC9, TMSA
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT001980 hsa-miR-21-5p Luciferase reporter assay, Western 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191010 12010 ENSG00000140416
Protein
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Motor proteins
Cytoskeleton in muscle cells
MicroRNAs in cancer
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
  Striated Muscle Contraction
Smooth 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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
cardiomyopathy Cardiomyopathy rs397516373, rs104894503, rs199476321, rs199476315, rs397516386, rs397516363, rs1596386673, rs199476316 N/A
Cardiomyopathy Primary dilated cardiomyopathy rs199476317, rs397516373, rs104894503, rs199476311, rs199476315, rs727504389, rs397516364, rs876657662, rs397516370, rs397516371 N/A
Dilated Cardiomyopathy Dilated cardiomyopathy 1Y rs754664923, rs397516373, rs104894503, rs199476321, rs199476311, rs886037905, rs199476316 N/A
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy rs754664923, rs104894502, rs199476317, rs199476321, rs397516373, rs199476315, rs1555409659, rs104894503, rs199476311, rs727504264, rs104894504, rs199476305, rs199476316, rs199476306 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Left ventricular noncompaction left ventricular noncompaction N/A N/A ClinVar
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Ventricular Cardiomyopathy arrhythmogenic right ventricular cardiomyopathy N/A N/A GenCC
Associations from Text Mining Disease 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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