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TPM3 (tropomyosin 3)

Identity

Other namesNEM1
HGNC TPM3
Location 1q25
Location_base_pair Starts at 152394404 and ends at 152422349 bp from pter ( according to hg18-Mar_2006).

DNA/RNA

Description spans at least 42 kb; 13 exons

Protein

Description by tissue-specific alternate splincing are produced 2 proteins: the tropomyosin alpha chain, skeletal muscle type, made of 284 amino acids (32 kDa), and the cytosqueletal type, made of 248 amino acids (29 kDa). Coiled-coil structure
Function Tropomyosins are actin-binding proteins; component of cytoskeletal microfilaments; tropomyosins mediate the effect of Ca2+ on the myosin-actin interaction In skeletal muscles, but their function in smooth muscles and other tissues is yet unknown
Homology Other tropomyosins: TPM1 (alpha) located in 15q22, TPM2 (beta), located in 9q13, and TPM4 located in 19p13.1

Implicated in

Entity rare cases of ALK+ anaplasic large cell lymphoma (ALCL) with t(1;2)(q25;p23)
Disease ALCL presents as an aggressive lymphoma with systemic signs
Prognosis nonetheless, have a favourable prognosis
Hybrid/Mutated Gene 5' CLTC - 3' ALK
Abnormal Protein 104 kDa ; 221 N-term amino acids from TPM3 fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); homodimerization of the fusion protein.
Oncogenesis TPM3-ALK is contitutively activated
  
Entity cases of Inflammatory myofibroblastic tumors with t(1;2)(q25;p23)
Disease rare soft tissue tumour found in children and young adults
Prognosis good prognosis
Hybrid/Mutated Gene 5' CLTC - 3' ALK
Abnormal Protein 104 kDa ; 221 N-term amino acids from TPM3 fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); homodimerization of the fusion protein.
Oncogenesis TPM3-ALK is contitutively activated
  
Entity papillary thyroid carcinoma
Disease represents about 60% of thyroid cancers; small, undetectable, chromosome 1q inversions have shown to produce a TPM3-NTRK1 hybrid gene in a very few cases of papillary thyroid carcinoma.
Prognosis prognosis of papillary thyroid carcinoma is excellent
Hybrid/Mutated Gene 5' TPM3 - 3' NTRK1
Abnormal Protein 221 N-term amino acids from PM3 fused to the C-term of NTRK1, including its tyrosine kinase domain
  

Breakpoints

 

To be noted

ALK and TPM3 are therefore implicated in both anaplasic large cell lymphoma and inflammatory myofibroblastic tumours; this is a new concept, that 2 different types of tumour may result from the same chromosomal and genes rearrangement.

External links

Nomenclature
HGNCTPM3   12012
Entrez_GeneTPM3  7170  tropomyosin 3
Cards
AtlasTPM3ID225
GeneCardsTPM3
EnsemblENSG00000143549 [Gene_View]  TPM3 [Vega]
GenatlasTPM3
Genomic and cartography
GoldenPathTPM3  -  1q25   chr1:152394404-152422349 -  1q21.2   [Description]    (hg18-Mar_2006)
EnsemblTPM3 - 1q21.2 [CytoView]
NCBIMapview
OMIM161800 Disease map [OMIM]
OMIM191030 Disease map [OMIM]
HomoloGeneTPM3
Gene and transcription
GenbankAA863064 [ ENTREZ ]
GenbankAB062125 [ ENTREZ ]
GenbankAF474157 [ ENTREZ ]
GenbankAK026559 [ ENTREZ ]
GenbankAK056889 [ ENTREZ ]
RefSeqNM_001043351 [ SRS ]    NM_001043351 [ ENTREZ ]
RefSeqNM_001043352 [ SRS ]    NM_001043352 [ ENTREZ ]
RefSeqNM_001043353 [ SRS ]    NM_001043353 [ ENTREZ ]
RefSeqNM_152263 [ SRS ]    NM_152263 [ ENTREZ ]
RefSeqNM_153649 [ SRS ]    NM_153649 [ ENTREZ ]
RefSeqAC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeqAC_000133 [ SRS ]    AC_000133 [ ENTREZ ]
RefSeqNC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeqNT_004487 [ SRS ]    NT_004487 [ ENTREZ ]
RefSeqNW_001838529 [ SRS ]    NW_001838529 [ ENTREZ ]
RefSeqNW_925683 [ SRS ]    NW_925683 [ ENTREZ ]
CCDSTPM3 CCDS - NCBI
AceViewTPM3 AceView - NCBI
UnigeneHs.705387 [ SRS ]    Hs.705387 [ NCBI ]
Fast-db17331 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtP06753 [ SRS]    P06753 [ EXPASY ]     P06753 [ INTERPRO ]     P06753 [ UNIPROT ] P06753 [ VarSplice FASTA ]
PrositePS00326 TROPOMYOSIN [ SRS ]    PS00326 TROPOMYOSIN [ Expasy ]
InterproIPR000533 Tropomyosin [ SRS ]    IPR000533 Tropomyosin [ EBI ]
CluSTrP06753
PfamPF00261 Tropomyosin [ SRS ]    PF00261 Tropomyosin [ Sanger ]    pfam00261 [ NCBI-CDD ]
BlocksP06753
HPRD01840
Protein Interaction databases
DIPP06753
IntActP06753
Polymorphism : SNP, mutations, diseases
OMIM161800    [ map ]   
OMIM191030    [ map ]   
GENETests161800
GENETests191030
SNPTPM3 [dbSNP-NCBI]  
SNPNM_001043351 [SNP-NCI]  
SNPNM_001043352 [SNP-NCI]  
SNPNM_001043353 [SNP-NCI]  
SNPNM_152263 [SNP-NCI]  
SNPNM_153649 [SNP-NCI]  
SNPTPM3 [GeneSNPs - Utah]  TPM3] [HGBASE - SRS]
HAPMAPTPM3 [HAPMAP]  
COSMICTPM3 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbTPM3 [Translocation breakpoints In Cancer]  
HGMDTPM3
Genetic AssociationTPM3
CDC HuGETPM3
General knowledge
Family BrowserTPM3 [UCSC Family Browser]
SOURCENM_001043351
SOURCENM_001043352
SOURCENM_001043353
SOURCENM_152263
SOURCENM_153649
SMDHs.705387
SAGEHs.705387
GOmolecular_function [Amigo]  molecular_function
GOactin binding [Amigo]  actin binding
GOprotein binding [Amigo]  protein binding
GOcytoplasm [Amigo]  cytoplasm
GOcytoskeleton [Amigo]  cytoskeleton
GOcytoskeleton [Amigo]  cytoskeleton
GOmuscle thin filament tropomyosin [Amigo]  muscle thin filament tropomyosin
GOcell motility [Amigo]  cell motility
GOregulation of muscle contraction [Amigo]  regulation of muscle contraction
PubGeneTPM3
TreeFamTPM3
CTD7170 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
ProbeTPM3 Related clones (RZPD - Berlin)
PubMed
PubMed60 Pubmed reference(s) in Entrez

Bibliography

A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences.
Martin-Zanca D, Hughes SH, Barbacid M
Nature. 1986 ; 319 (6056) : 743-748.
PMID 2869410
 
A sequence analysis of the genomic regions involved in the rearrangements between TPM3 and NTRK1 genes producing TRK oncogenes in papillary thyroid carcinomas.
Butti MG, Bongarzone I, Ferraresi G, Mondellini P, Borrello MG, Pierotti MA
Genomics. 1995 ; 28 (1) : 15-24.
PMID 7590742
 
A new fusion gene TPM3-ALK in anaplastic large cell lymphoma created by a (1;2)(q25;p23) translocation.
Lamant L, Dastugue N, Pulford K, Delsol G, Mariamˆ© B
Blood. 1999 ; 93 (9) : 3088-3095.
PMID 10216106
 
Complex variant translocation t(1;2) with TPM3-ALK fusion due to cryptic ALK gene rearrangement in anaplastic large-cell lymphoma.
Siebert R, Gesk S, Harder L, Steinemann D, Grote W, Schlegelberger B, Tiemann M, Wlodarska I, Schemmel V
Blood. 1999 ; 94 (10) : 3614-3617.
PMID 10610119
 
Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors.
Griffin CA, Hawkins AL, Dvorak C, Henkle C, Ellingham T, Perlman EJ
Cancer research. 1999 ; 59 (12) : 2776-2780.
PMID 10383129
 
Tropomyosin and actin isoforms modulate the localization of tropomyosin strands on actin filaments.
Lehman W, Hatch V, Korman V, Rosol M, Thomas L, Maytum R, Geeves MA, Van Eyk JE, Tobacman LS, Craig R
Journal of molecular biology. 2000 ; 302 (3) : 593-606.
PMID 10986121
 
Aberrant ALK tyrosine kinase signaling. Different cellular lineages, common oncogenic mechanisms.
Ladanyi M
The American journal of pathology. 2000 ; 157 (2) : 341-345.
PMID 10934137
 
TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.
Lawrence B, Perez-Atayde A, Hibbard MK, Rubin BP, Dal Cin P, Pinkus JL, Pinkus GS, Xiao S, Yi ES, Fletcher CD, Fletcher JA
The American journal of pathology. 2000 ; 157 (2) : 377-384.
PMID 10934142
 
Deciphering the design of the tropomyosin molecule.
Brown JH, Kim KH, Jun G, Greenfield NJ, Dominguez R, Volkmann N, Hitchcock-DeGregori SE, Cohen C
Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (15) : 8496-8501.
PMID 11438684
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2001Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . TPM3 (tropomyosin 3). Atlas Genet Cytogenet Oncol Haematol. August 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/TPM3ID225.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 27 13:30:50 2008


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