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MGP003181

UniProt Annotations

Entry Information
Gene Nametropomyosin 1 (alpha)
Protein EntryTPM1_HUMAN
UniProt IDP09493
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=10; Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Skeletal muscle, TPM1alpha; IsoId=P09493-1; Sequence=Displayed; Name=2; Synonyms=Smooth muscle; IsoId=P09493-2; Sequence=VSP_006576, VSP_006578, VSP_006579; Note=Incomplete sequence.; Name=3; Synonyms=Fibroblast, TM3; IsoId=P09493-3; Sequence=VSP_006577, VSP_006579; Note=Contains a N6-acetyllysine at position 213.; Name=4; IsoId=P09493-4; Sequence=VSP_006577; Note=Contains a N6-acetyllysine at position 213.; Name=5; IsoId=P09493-5; Sequence=VSP_017498, VSP_017499; Name=6; Synonyms=10, TPM1kappa; IsoId=P09493-6; Sequence=VSP_036064; Name=7; IsoId=P09493-7; Sequence=VSP_036064, VSP_006579; Note=No experimental confirmation available.; Name=8; IsoId=P09493-8; Sequence=VSP_047297, VSP_047298, VSP_047299, VSP_047300, VSP_006579; Note=Gene prediction based on EST data. Contains a N6-acetyllysine at position 213.; Name=9; IsoId=P09493-9; Sequence=VSP_006579; Note=Gene prediction based on EST data.; Name=10; IsoId=P09493-10; Sequence=VSP_047299, VSP_047300, VSP_047301; Note=No experimental confirmation available. Contains a N6-acetyllysine at position 213.;
DiseaseCardiomyopathy, 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:0000269|PubMed:11273725}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCardiomyopathy, 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:0000269|PubMed:12974739, ECO:0000269|PubMed:7898523, ECO:0000269|PubMed:8205619, ECO:0000269|PubMed:8523464, ECO:0000269|PubMed:9822100}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLeft 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:0000269|PubMed:21551322}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Mass SpectrometryMass=32875.93; Method=MALDI; Range=1-284 (P09493-3); Evidence={ECO:0000269|PubMed:11840567};
PtmPhosphorylated at Ser-283 by DAPK1 in response to oxidative stress and this phosphorylation enhances stress fiber formation in endothelial cells. {ECO:0000269|PubMed:17895359}.
SimilarityBelongs to the tropomyosin family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton.
SubunitHeterodimer of an alpha and a beta chain. Interacts with HRG (via the HRR domain); the interaction contributes to the antiangiogenic properties of the histidine/proline-rich region (HRR) of HRG. {ECO:0000250}.
Tissue SpecificityDetected 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:0000269|PubMed:15249230, ECO:0000269|Ref.15}.
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