Homo sapiens Gene: TPM3 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-102860.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | TPM3 | ||||||||||||||||||||||
Gene Name | tropomyosin 3 | ||||||||||||||||||||||
Synonyms | CAPM1; CFTD; HEL-189; HEL-S-82p; hscp30; NEM1; OK/SW-cl.5; TM-5; TM3; TM30; TM30nm; TM5; TPMsk3; TRK | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000143549 | ||||||||||||||||||||||
Encoded Proteins |
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
tropomyosin 3
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Mutations in this gene result in autosomal dominant nemaline myopathy, and oncogenes formed by chromosomal translocations involving this locus are associated with cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 1:154155304-154194648 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q21.3 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 57 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
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Gene ID
Gene Order
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Smooth Muscle Contraction pathway
Striated Muscle Contraction pathway
Muscle contraction pathway
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KEGG |
Thyroid cancer pathway
Hypertrophic cardiomyopathy (HCM) pathway
Pathways in cancer pathway
Cardiac muscle contraction pathway
Dilated cardiomyopathy pathway
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INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
UniGene | Hs.625550 Hs.644306 Hs.715250 | ||||||||||||||||||||||
RefSeq | NM_001043351 NM_001043352 NM_001043353 NM_001278188 NM_001278189 NM_001278190 NM_001278191 NM_152263 NM_153649 XM_006711516 XM_006711517 XM_006711518 XM_006711523 | ||||||||||||||||||||||
HUGO | |||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS1060 CCDS41400 CCDS41401 CCDS41402 CCDS41403 CCDS60274 CCDS60275 CCDS72922 | ||||||||||||||||||||||
HPRD | 01840 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | |||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||