Homo sapiens Protein: TPM1 | |||||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-15414.7 | ||||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||||
Gene Symbol | TPM1 | ||||||||||||||||||||||||||||||||||
Protein Name | tropomyosin 1 (alpha) | ||||||||||||||||||||||||||||||||||
Synonyms | C15orf13; CMD1Y; CMH3; HTM-alpha; LVNC9; TMSA; | ||||||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000334624 | ||||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-15400 (TPM1) | ||||||||||||||||||||||||||||||||||
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 | Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269PubMed:12974739, ECO:0000269PubMed:7898523, ECO:0000269PubMed:8205619, ECO:0000269PubMed:8523464, ECO:0000269PubMed:9822100}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1Y (CMD1Y) [MIM:611878]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:11273725}. Note=The disease is caused by mutations affecting the gene represented in this entry.Left ventricular non-compaction 9 (LVNC9) [MIM:611878]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. {ECO:0000269PubMed:21551322}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||||||||||
Tissue Specificity | Detected in primary breast cancer tissues but undetectable in normal breast tissues in Sudanese patients. Isoform 1 is expressed in adult and fetal skeletal muscle and cardiac tissues, with higher expression levels in the cardiac tissues. Isoform 10 is expressed in adult and fetal cardiac tissues, but not in skeletal muscle. {ECO:0000269PubMed:15249230, ECO:0000269Ref.15}. | ||||||||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 67 experimentally validated interaction(s) in this database.
They are also associated with 7 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 IPR008374 SF-assemblin |
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PFAM |
PF00261
PF12718 |
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PRINTS |
PR00194
PR01799 |
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PIRSF | |||||||||||||||||||||||||||||||||||
SMART | |||||||||||||||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||||
SwissProt | P09493 | ||||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-P09493 | ||||||||||||||||||||||||||||||||||
TrEMBL | Q07413 | ||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||
Entrez Gene | 7168 | ||||||||||||||||||||||||||||||||||
UniGene | Hs.713685 | ||||||||||||||||||||||||||||||||||
RefSeq | NP_001018008 | ||||||||||||||||||||||||||||||||||
HUGO | HGNC:12010 | ||||||||||||||||||||||||||||||||||
OMIM | 191010 | ||||||||||||||||||||||||||||||||||
CCDS | CCDS32264 | ||||||||||||||||||||||||||||||||||
HPRD | 01839 | ||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||
EMBL | AC079328 AK299387 AL050179 AY640414 AY640415 BC007433 BC050473 BC053545 CH471082 GU324929 GU324930 GU324933 GU324934 GU324935 L02922 M19267 M19713 M19714 M19715 X12369 | ||||||||||||||||||||||||||||||||||
GenPept | AAA16888 AAA36771 AAA61225 AAA61226 AAA61227 AAH07433 AAH50473 AAH53545 AAT68294 AAT68295 ADL14500 ADL14501 ADL14504 ADL14505 ADL14506 BAH13023 CAA30930 CAB43309 EAW77619 EAW77622 EAW77623 EAW77627 EAW77628 | ||||||||||||||||||||||||||||||||||