Homo sapiens Protein: TPM3 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-102866.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | TPM3 | ||||||||||||||||||||||
Protein 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 Protein | ENSP00000357521 | ||||||||||||||||||||||
InnateDB Gene | IDBG-102860 (TPM3) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Binds 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. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm, cytoskeleton. | ||||||||||||||||||||||
Disease Associations | Nemaline 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:0000269PubMed:17376686, ECO:0000269PubMed:7704029}. Note=The disease is caused by mutations affecting the gene represented in this entry.Thyroid 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.Myopathy, 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:0000269PubMed:18300303}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cap 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:0000269PubMed:18300303, ECO:0000269PubMed:19487656, ECO:0000269PubMed:19553118}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
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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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000533
Tropomyosin IPR011072 HR1 rho-binding repeat |
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PFAM |
PF00261
PF12718 PF02185 |
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PRINTS |
PR00194
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PIRSF | |||||||||||||||||||||||
SMART |
SM00742
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P06753 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P06753 | ||||||||||||||||||||||
TrEMBL | Q8NI98 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 7170 | ||||||||||||||||||||||
UniGene | Hs.715250 | ||||||||||||||||||||||
RefSeq | NP_705935 | ||||||||||||||||||||||
HUGO | HGNC:12012 | ||||||||||||||||||||||
OMIM | 191030 | ||||||||||||||||||||||
CCDS | CCDS1060 | ||||||||||||||||||||||
HPRD | 01840 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB062125 AF474157 AL590431 AY004867 BC000771 BC008407 BC008425 BC015403 BC072428 CH471121 DQ120714 M12128 X03541 X04201 X04588 | ||||||||||||||||||||||
GenPept | AAA36775 AAF87083 AAH00771 AAH08407 AAH08425 AAH15403 AAH72428 AAL84570 ABC40673 BAB93457 CAA27243 CAA27798 CAB37185 CAH71264 CAH71269 EAW53229 EAW53230 EAW53231 EAW53235 | ||||||||||||||||||||||