TPM3 (tropomyosin 3)
2001-08-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
1q21.3
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
CAPM1,CFTD,HEL-189,HEL-S-82p,NEM1,OK/SW-cl.5,TM-5,TM3,TM30,TM30nm,TM5,TPM3nu,TPMsk3,TRK,hscp30
FUSION GENES
DNA/RNA
Description
spans at least 42 kb; 13 exons
Proteins
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 name
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 gene
5 CLTC - 3 ALK
Fusion 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 name
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 gene
5 CLTC - 3 ALK
Fusion 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 name
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 gene
5 TPM3 - 3 NTRK1
Fusion protein
221 N-term amino acids from PM3 fused to the C-term of NTRK1, including its tyrosine kinase domain
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11438684 | 2001 | Deciphering the design of the tropomyosin molecule. | Brown JH et al |
| 7590742 | 1995 | 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 et al |
| 10383129 | 1999 | Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors. | Griffin CA et al |
| 10934137 | 2000 | Aberrant ALK tyrosine kinase signaling. Different cellular lineages, common oncogenic mechanisms. | Ladanyi M et al |
| 10216106 | 1999 | A new fusion gene TPM3-ALK in anaplastic large cell lymphoma created by a (1;2)(q25;p23) translocation. | Lamant L et al |
| 10934142 | 2000 | TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors. | Lawrence B et al |
| 10986121 | 2000 | Tropomyosin and actin isoforms modulate the localization of tropomyosin strands on actin filaments. | Lehman W et al |
| 2869410 | 1986 | A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences. | Martin-Zanca D et al |
| 10610119 | 1999 | Complex variant translocation t(1;2) with TPM3-ALK fusion due to cryptic ALK gene rearrangement in anaplastic large-cell lymphoma. | Siebert R et al |
Other Information
Locus ID:
NCBI: 7170
MIM: 191030
HGNC: 12012
Ensembl: ENSG00000143549
Variants:
dbSNP: 7170
ClinVar: 7170
TCGA: ENSG00000143549
COSMIC: TPM3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38185233 | 2024 | Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin γβ-heterodimer. | 0 |
| 38219297 | 2024 | Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia. | 0 |
| 38240347 | 2024 | RNF20 Regulates Oocyte Meiotic Spindle Assembly by Recruiting TPM3 to Centromeres and Spindle Poles. | 1 |
| 38928503 | 2024 | The Role of TPM3 in Protecting Cardiomyocyte from Hypoxia-Induced Injury via Cytoskeleton Stabilization. | 0 |
| 38185233 | 2024 | Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin γβ-heterodimer. | 0 |
| 38219297 | 2024 | Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia. | 0 |
| 38240347 | 2024 | RNF20 Regulates Oocyte Meiotic Spindle Assembly by Recruiting TPM3 to Centromeres and Spindle Poles. | 1 |
| 38928503 | 2024 | The Role of TPM3 in Protecting Cardiomyocyte from Hypoxia-Induced Injury via Cytoskeleton Stabilization. | 0 |
| 36880246 | 2023 | [Effects of tropomyosin 3 on pyroptosis of cardiomyocytes and fibroblast activation induced by hypoxia/reoxygenation in rats]. | 0 |
| 38003336 | 2023 | A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype. | 0 |
| 38003645 | 2023 | Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization. | 0 |
| 36880246 | 2023 | [Effects of tropomyosin 3 on pyroptosis of cardiomyocytes and fibroblast activation induced by hypoxia/reoxygenation in rats]. | 0 |
| 38003336 | 2023 | A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype. | 0 |
| 38003645 | 2023 | Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization. | 0 |
| 35287546 | 2022 | PolyC-RNA-binding protein 1 (PCBP1) enhances tropomyosin 3 (TPM3) mRNA stability to promote the progression of esophageal squamous cell carcinoma. | 1 |
Citation
Jean-Loup Huret
TPM3 (tropomyosin 3)
Atlas Genet Cytogenet Oncol Haematol. 2001-08-01
Online version: http://atlasgeneticsoncology.org/gene/225
