InnateDB Protein
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IDBP-5668.6
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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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ACTC1
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Protein Name
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actin, alpha, cardiac muscle 1
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Synonyms
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ACTC; ASD5; CMD1R; CMH11; LVNC4;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000290378
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InnateDB Gene
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IDBG-5666 (ACTC1)
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Protein Structure
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Function |
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
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Subcellular Localization |
Cytoplasm, cytoskeleton.
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Disease Associations |
Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]: 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:9563954}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]: 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:10330430, ECO:0000269PubMed:10966831, ECO:0000269PubMed:14729850, ECO:0000269PubMed:18403758}. Note=The disease is caused by mutations affecting the gene represented in this entry.Atrial septal defect 5 (ASD5) [MIM:612794]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. {ECO:0000269PubMed:17947298}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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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 36 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated |
Total |
36
[view]
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Protein-Protein |
36
[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 |
6 [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 |
IPR004000
Actin-related protein
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PFAM |
PF00022
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PRINTS |
PR00190
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PIRSF |
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SMART |
SM00268
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TIGRFAMs |
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Modification |
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SwissProt |
P68032
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PhosphoSite |
PhosphoSite-P68032
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TrEMBL |
B3KPP5
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UniProt Splice Variant |
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Entrez Gene |
70
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UniGene |
Hs.118127
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RefSeq |
NP_005150
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HUGO |
HGNC:143
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OMIM |
102540
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CCDS |
CCDS10041
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HPRD |
00015
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IMGT |
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EMBL |
AK056592
BC009978
CR541795
J00070
J00071
J00072
J00073
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GenPept |
AAB59619
AAH09978
BAG51757
CAG46594
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