TPM1 (tropomyosin 1)

Gene

• Entrez ID: 7168
• Gene name: Tropomyosin 1
• Gene symbol: TPM1
• Synonyms: C15orf13, CMD1Y, CMH3, HEL-S-265, HTM-alpha, LVNC9, TMSA
• 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-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

SNPs

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
rs144045691	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs199476305	G>C	Likely-pathogenic, not-provided	Genic upstream transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs199476306	C>T	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs199476310	T>C	Likely-pathogenic, not-provided	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs199476311	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs199476312	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs199476315	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs199476316	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs199476317	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs199476319	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant, non coding transcript variant
rs199476321	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs397516363	G>A,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs397516364	T>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant
rs397516369	C>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs397516370	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs397516371	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs397516372	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs397516373	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs397516376	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs397516386	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs397516391	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant
rs397516486	C>G,T	Likely-pathogenic	Missense variant, intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs532254032	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, intron variant
rs727503518	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs727504264	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs727504290	G>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs727504389	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs730881128	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs730881134	A>G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs730881136	T>A,G	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs730881140	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs730881146	G>A	Pathogenic, uncertain-significance	Splice donor variant, intron variant, genic upstream transcript variant
rs730881151	G>T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs730881157	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs730881159	G>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs730881160	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs754664923	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs757577112	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs876657662	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs879253758	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886037905	G>A,C	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs886039444	A>C	Uncertain-significance, likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1064793284	G>C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1114167355	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1114167356	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1114167357	T>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1555408679	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1555409659	TACTCG>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs1596303148	A>G	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, missense variant, intron variant, coding sequence variant
rs1596386673	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001327	hsa-miR-1-3p	pSILAC, Proteomics	18668040
MIRT001327	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT001980	hsa-miR-21-5p	Luciferase reporter assay, Western blot, Western blot;qRT-PCR	17363372
MIRT001980	hsa-miR-21-5p	Luciferase reporter assay	18270520
MIRT001980	hsa-miR-21-5p	Luciferase reporter assay	19253296
MIRT001980	hsa-miR-21-5p	Luciferase reporter assay	21817107
MIRT001980	hsa-miR-21-5p	Microarray	18591254
MIRT021693	hsa-miR-133a-3p	Microarray	21396852
MIRT023135	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT025560	hsa-miR-34a-5p	Proteomics	21566225
MIRT053002	hsa-miR-10b-5p	Western blot	22766763
MIRT698081	hsa-miR-497-5p	HITS-CLIP	23313552
MIRT698082	hsa-miR-3685	HITS-CLIP	23313552
MIRT698083	hsa-miR-6071	HITS-CLIP	23313552
MIRT698084	hsa-miR-6828-3p	HITS-CLIP	23313552
MIRT698085	hsa-miR-155-3p	HITS-CLIP	23313552
MIRT698086	hsa-miR-8064	HITS-CLIP	23313552
MIRT698087	hsa-miR-145-3p	HITS-CLIP	23313552
MIRT698088	hsa-miR-3605-5p	HITS-CLIP	23313552
MIRT698089	hsa-miR-3679-5p	HITS-CLIP	23313552
MIRT698090	hsa-miR-1185-5p	HITS-CLIP	23313552
MIRT698091	hsa-miR-6831-3p	HITS-CLIP	23313552
MIRT698092	hsa-miR-6825-3p	HITS-CLIP	23313552
MIRT698093	hsa-miR-6761-3p	HITS-CLIP	23313552
MIRT698094	hsa-miR-3174	HITS-CLIP	23313552
MIRT698095	hsa-miR-892a	HITS-CLIP	23313552

Gene ontology (GO)

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	TAS	12686598
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	12686598
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 25416956, 26871637
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	TAS	16130169
GO:0005862	Component	Muscle thin filament tropomyosin	TAS	8205619
GO:0005884	Component	Actin filament	IBA	21873635
GO:0006936	Process	Muscle contraction	IBA	21873635
GO:0006936	Process	Muscle contraction	TAS
GO:0006937	Process	Regulation of muscle contraction	TAS	3336363
GO:0007010	Process	Cytoskeleton organization	TAS	12686598
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0008016	Process	Regulation of heart contraction	TAS	8205619
GO:0008092	Function	Cytoskeletal protein binding	IPI	17987659
GO:0008307	Function	Structural constituent of muscle	TAS	8205619
GO:0008360	Process	Regulation of cell shape	IMP	21817107
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030049	Process	Muscle filament sliding	ISS	11136687
GO:0030049	Process	Muscle filament sliding	TAS
GO:0030336	Process	Negative regulation of cell migration	ISS	15897890
GO:0031529	Process	Ruffle organization	ISS	15897890
GO:0032059	Component	Bleb	IMP	12686598
GO:0032587	Component	Ruffle membrane	IDA	12686598
GO:0032781	Process	Positive regulation of ATPase activity	ISS	11136687
GO:0034614	Process	Cellular response to reactive oxygen species	IEP	12686598
GO:0042060	Process	Wound healing	ISS	17721995
GO:0042802	Function	Identical protein binding	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0045214	Process	Sarcomere organization	IMP	11273725
GO:0045785	Process	Positive regulation of cell adhesion	ISS	17721995
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	ISS
GO:0051496	Process	Positive regulation of stress fiber assembly	ISS	15897890
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	11136687
GO:0060048	Process	Cardiac muscle contraction	IBA	21873635
GO:0060048	Process	Cardiac muscle contraction	IMP	11136687
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IMP	21817107
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IMP	21817107

Other IDs

• MIM: 191010
• HGNC: 12010
• e!Ensembl: 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 muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.
• PDB: 3MUD, 5KHT, 6UT2, 6X5Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00261	Tropomyosin	48 → 284	Tropomyosin	Coiled-coil

• Sequence:

  MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKY
  SEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAA
  DESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAE
  ERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
  FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI

• Sequence length: 284