InnateDB Protein
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IDBP-293806.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TPM1
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Protein Name
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tropomyosin 1 (alpha)
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Synonyms
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C15orf13; CMD1Y; CMH3; HTM-alpha; LVNC9; TMSA;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000385107
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InnateDB Gene
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IDBG-15400 (TPM1)
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Protein Structure
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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.
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Subcellular Localization |
Cytoplasm, cytoskeleton.
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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.
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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}.
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Comments |
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Number of Interactions
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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.
Experimentally validated |
Total |
67
[view]
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Protein-Protein |
67
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
7 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000533
Tropomyosin
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PFAM |
PF00261
PF12718
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PRINTS |
PR00194
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P09493
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PhosphoSite |
PhosphoSite-P09493
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TrEMBL |
D9YZV4
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UniProt Splice Variant |
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Entrez Gene |
7168
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UniGene |
Hs.713685
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RefSeq |
NP_001018005
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HUGO |
HGNC:12010
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OMIM |
191010
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CCDS |
CCDS45273
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HPRD |
01839
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IMGT |
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EMBL |
AC079328
AK299387
AL050179
AY640414
AY640415
BC007433
BC050473
BC053545
CH471082
GU324929
GU324930
GU324931
GU324933
GU324935
M19267
M19713
M19714
M19715
X12369
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GenPept |
AAA36771
AAA61225
AAA61226
AAA61227
AAH07433
AAH50473
AAH53545
AAT68294
AAT68295
ADL14500
ADL14501
ADL14502
ADL14504
ADL14506
BAH13023
CAA30930
CAB43309
EAW77619
EAW77622
EAW77623
EAW77627
EAW77628
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