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Gene id

7170

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TPM3 Gene UCSC Ensembl

Aliases

CAPM1, CFTD, HEL-189, HEL-S-82p, NEM1, OK/SW-cl.5, TM-5, TM3, TM30, TM30nm, TM5, TPMsk3, TRK, hscp30

Gene name

tropomyosin 3

Alternate names

tropomyosin alpha-3 chain, alpha-tropomyosin, slow skeletal, cytoskeletal tropomyosin TM30, epididymis luminal protein 189, epididymis secretory sperm binding protein Li 82p, heat-stable cytoskeletal protein 30 kDa, tropomyosin gamma, tropomyosin-5,

Gene location

1q21.3 (154192134: 154155303) Exons: 16 NC_000001.11

Gene summary(Entrez)

This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

OMIM

191030

Protein Summary

Protein general information

P06753

Name: Tropomyosin alpha 3 chain (Gamma tropomyosin) (Tropomyosin 3) (Tropomyosin 5) (hTM5)

Length: 285 Mass: 32,950

Sequence

MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELA
EKKAADAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEEKMELQEIQLK
EAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESKCSELEEELKNVTNNLKSLEAQAEKYSQKEDKYEEE
IKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISEELDHALNDMTSI

Structural information

Interpro:	IPR000533
Prosite:	PS00326
Pfam:	PF00261
MINT:	1142638
STRING:	ENSP00000357516;

Other Databases

GeneCards: TPM3; Malacards: TPM3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001725	stress fiber	IDA	cellular_component
GO:0003674	molecular_function	ND	molecular_function
GO:0003779	actin binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005856	cytoskeleton	TAS	cellular_component
GO:0005856	cytoskeleton	NAS	cellular_component
GO:0005862	muscle thin filament trop omyosin	TAS	cellular_component
GO:0006928	movement of cell or subce llular component	TAS	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0030049	muscle filament sliding	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0001725	stress fiber	IDA	cellular_component
GO:0003674	molecular_function	ND	molecular_function
GO:0003779	actin binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005856	cytoskeleton	TAS	cellular_component
GO:0005856	cytoskeleton	NAS	cellular_component
GO:0005862	muscle thin filament trop omyosin	TAS	cellular_component
GO:0006928	movement of cell or subce llular component	TAS	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0030049	muscle filament sliding	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0001725	stress fiber	IDA	cellular_component
GO:0003674	molecular_function	ND	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005856	cytoskeleton	TAS	cellular_component
GO:0005856	cytoskeleton	NAS	cellular_component
GO:0005862	muscle thin filament trop omyosin	TAS	cellular_component
GO:0006928	movement of cell or subce llular component	TAS	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0030049	muscle filament sliding	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component

KEGG pathways

hsa05200  Pathways in cancer
hsa05410  Hypertrophic cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa04261  Adrenergic signaling in cardiomyocytes
hsa05216  Thyroid cancer
hsa04260  Cardiac muscle contraction

Diseases

Associated diseases	References
Cap myopathy	KEGG: H00702, OMIM: 191030
Endometriosis	PMID: 22158085
Endometriosis	INFBASE22158085
Myopathy	OMIM: 191030
Nemaline myopathy	OMIM: 191030
Thyroid cancer	KEGG: H00032

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22158085	Endometrio sis			147 (35 early e ndometriosis, 5 5 advanced endo metriosis, 57 w ithout endometr iosis)		TPM3	Show abstract