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Tropomyosin 3

Summary

Tropomyosin alpha-3 chain is a protein that in humans is encoded by the TPM3 gene.[5][6]

TPM3
Identifiers
AliasesTPM3, CAPM1, CFTD, HEL-189, HEL-S-82p, NEM1, OK/SW-cl.5, TM-5, TM3, TM30, TM30nm, TM5, TPMsk3, TRK, hscp30, Tropomyosin 3, TPM3nu
External IDsOMIM: 191030 MGI: 1890149 HomoloGene: 81889 GeneCards: TPM3
Orthologs
SpeciesHumanMouse
Entrez

7170

59069

Ensembl

ENSG00000143549

ENSMUSG00000027940

UniProt

P06753

P21107

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 1: 154.16 – 154.19 MbChr 3: 89.98 – 90.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143549 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027940 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Morris CM, Hao QL, Heisterkamp N, Fitzgerald PH, Groffen J (Aug 1991). "Localization of the TRK proto-oncogene to human chromosome bands 1q23-1q24". Oncogene. 6 (6): 1093–5. PMID 1829807.
  6. ^ a b "Entrez Gene: TPM3 tropomyosin 3".

Further reading edit

  • Lees-Miller JP, Helfman DM (1992). "The molecular basis for tropomyosin isoform diversity". BioEssays. 13 (9): 429–37. doi:10.1002/bies.950130902. PMID 1796905. S2CID 7958541.
  • Pittenger MF, Kazzaz JA, Helfman DM (1994). "Functional properties of non-muscle tropomyosin isoforms". Curr. Opin. Cell Biol. 6 (1): 96–104. doi:10.1016/0955-0674(94)90122-8. PMID 8167032.
  • Gunning P, Weinberger R, Jeffrey P (1997). "Actin and tropomyosin isoforms in morphogenesis". Anat. Embryol. 195 (4): 311–5. doi:10.1007/s004290050050. PMID 9108196. S2CID 9692297.
  • Gunning PW, Schevzov G, Kee AJ, Hardeman EC (2006). "Tropomyosin isoforms: divining rods for actin cytoskeleton function". Trends Cell Biol. 15 (6): 333–41. doi:10.1016/j.tcb.2005.04.007. PMID 15953552.
  • Rasmussen HH, van Damme J, Puype M, et al. (1993). "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes". Electrophoresis. 13 (12): 960–9. doi:10.1002/elps.11501301199. PMID 1286667. S2CID 41855774.
  • Höner B, Shoeman RL, Traub P (1992). "Degradation of cytoskeletal proteins by the human immunodeficiency virus type 1 protease". Cell Biol. Int. Rep. 16 (7): 603–12. doi:10.1016/S0309-1651(06)80002-0. PMID 1516138.
  • Winder SJ, Walsh MP (1990). "Smooth muscle calponin. Inhibition of actomyosin MgATPase and regulation by phosphorylation". J. Biol. Chem. 265 (17): 10148–55. doi:10.1016/S0021-9258(19)38792-7. PMID 2161834.
  • Takahashi K, Hiwada K, Kokubu T (1988). "Vascular smooth muscle calponin. A novel troponin T-like protein". Hypertension. 11 (6 Pt 2): 620–6. doi:10.1161/01.hyp.11.6.620. PMID 2455687.
  • Coulier F, Martin-Zanca D, Ernst M, Barbacid M (1989). "Mechanism of activation of the human trk oncogene". Mol. Cell. Biol. 9 (1): 15–23. doi:10.1128/mcb.9.1.15. PMC 362140. PMID 2538716.
  • Martin-Zanca D, Hughes SH, Barbacid M (1986). "A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences". Nature. 319 (6056): 743–8. Bibcode:1986Natur.319..743M. doi:10.1038/319743a0. PMID 2869410. S2CID 4316805.
  • Reinach FC, MacLeod AR (1986). "Tissue-specific expression of the human tropomyosin gene involved in the generation of the trk oncogene". Nature. 322 (6080): 648–50. Bibcode:1986Natur.322..648R. doi:10.1038/322648a0. PMID 3018581. S2CID 4307865.
  • MacLeod AR, Houlker C, Reinach FC, Talbot K (1987). "The mRNA and RNA-copy pseudogenes encoding TM30nm, a human cytoskeletal tropomyosin". Nucleic Acids Res. 14 (21): 8413–26. doi:10.1093/nar/14.21.8413. PMC 311868. PMID 3024106.
  • Clayton L, Reinach FC, Chumbley GM, MacLeod AR (1988). "Organization of the hTMnm gene. Implications for the evolution of muscle and non-muscle tropomyosins". J. Mol. Biol. 201 (3): 507–15. doi:10.1016/0022-2836(88)90633-X. PMID 3418707.
  • MacLeod AR, Houlker C, Reinach FC, et al. (1986). "A muscle-type tropomyosin in human fibroblasts: evidence for expression by an alternative RNA splicing mechanism". Proc. Natl. Acad. Sci. U.S.A. 82 (23): 7835–9. doi:10.1073/pnas.82.23.7835. PMC 390864. PMID 3865200.
  • Butti MG, Bongarzone I, Ferraresi G, et al. (1995). "A sequence analysis of the genomic regions involved in the rearrangements between TPM3 and NTRK1 genes producing TRK oncogenes in papillary thyroid carcinomas". Genomics. 28 (1): 15–24. doi:10.1006/geno.1995.1100. PMID 7590742.
  • Laing NG, Wilton SD, Akkari PA, et al. (1995). "A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1". Nat. Genet. 10 (2): 249. doi:10.1038/ng0695-249a. PMID 7663526.
  • Laing NG, Wilton SD, Akkari PA, et al. (1995). "A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy". Nat. Genet. 9 (1): 75–9. doi:10.1038/ng0195-75. PMID 7704029. S2CID 40422785.
  • Wilton SD, Eyre H, Akkari PA, et al. (1994). "Assignment of the human a-tropomyosin gene TPM3 to 1q22→q23 by fluorescence in situ hybridisation". Cytogenet. Cell Genet. 68 (1–2): 122–4. doi:10.1159/000133905. PMID 7956350.

External links edit

  • GeneReviews/NCBI/NIH/UW entry on Nemaline Myopathy