MGP Database

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MGP003183

UniProt Annotations

Entry Information
Gene Nametropomyosin 3
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Skeletal muscle; IsoId=P06753-1; Sequence=Displayed; Name=2; Synonyms=Cytoskeletal, TM30nm; IsoId=P06753-2; Sequence=VSP_006604, VSP_006605, VSP_006606; Note=Peptides 2-27, 41-55, 132-153, 163-169, 216-225 and 237-248 have been identified and sequenced by MS. Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Ref.8 (ABC40673) sequence is in conflict in positions: 33:R->Q, 43:E->K, 66:A->P, 85:D->G, 110:I->L, 135:I->T, 150:A->T, 192:L->F, 196:L->P, 202:R->C. Ref.8 (ABC40673) sequence corresponds to a TPM3 retrocopy (rcTPM3) on chromosome 16 that is generated by retroposition of reversed transcribed mRNA back to the genome. rcTPM3 functionality is uncertain. It has been detected by MS in primary breast cancer tissues. Contains a N6-acetyllysine at position 215. Contains a N6-acetyllysine at position 177. {ECO:0000305}; Name=3; IsoId=P06753-3; Sequence=VSP_006604, VSP_006605, VSP_006607; Note=Peptides 2-27, 41-55, 132-153 and 163-169 have been identified and sequenced by MS. Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a N6-acetyllysine at position 177.; Name=4; IsoId=P06753-4; Sequence=VSP_047302, VSP_047303, VSP_047304, VSP_047305, VSP_047306; Note=Gene prediction based on EST data.; Name=5; IsoId=P06753-5; Sequence=VSP_047302, VSP_047303, VSP_047304, VSP_006606; Note=Gene prediction based on EST data. Contains a N6-acetyllysine at position 215.; Name=6; IsoId=P06753-6; Sequence=VSP_006604, VSP_006605; Note=No experimental confirmation available.; Name=7; IsoId=P06753-7; Sequence=VSP_054792, VSP_006606; Note=No experimental confirmation available. Gene prediction based on EST data.;
CautionIt is uncertain whether Met-1 or Met-2 is the initiator. {ECO:0000305}.
DiseaseCap myopathy 1 (CAPM1) [MIM:609284]: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and slowly progressive muscle weakness. Respiratory problems are common. {ECO:0000269|PubMed:18300303, ECO:0000269|PubMed:19487656, ECO:0000269|PubMed:19553118, ECO:0000269|PubMed:24239060, ECO:0000269|PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMyopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269|PubMed:18300303, ECO:0000269|PubMed:19953533, ECO:0000269|PubMed:20951040, ECO:0000269|PubMed:24692096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNemaline myopathy 1 (NEM1) [MIM:609284]: A form of nemaline myopathy with autosomal dominant or recessive inheritance. Nemaline myopathies are disorders characterized by muscle weakness of varying onset and severity, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Autosomal dominant NEM1 is characterized by a moderate phenotype with onset between birth and early second decade of life. Weakness is diffuse and symmetric with slow progression often with need for a wheelchair in adulthood. The autosomal recessive form has onset at birth with moderate to severe hypotonia and diffuse weakness. In the most severe cases, death can occur before 2 years. Less severe cases have delayed major motor milestones, and these patients may walk, but often need a wheelchair before 10 years. {ECO:0000269|PubMed:17376686, ECO:0000269|PubMed:24692096, ECO:0000269|PubMed:7704029}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseThyroid papillary carcinoma (TPC) [MIM:188550]: A common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving TPM3 is found in thyroid papillary carcinomas. A rearrangement with NTRK1 generates the TRK fusion transcript by fusing the amino end of isoform 2 of TPM3 to the 3'-end of NTRK1.
DomainThe molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven- residues periodicity.
FunctionBinds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.
SimilarityBelongs to the tropomyosin family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton.
SubunitHeterodimer of an alpha and a beta chain. Binds to TMOD1.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TPM3ID225.html";
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