InnateDB Protein
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IDBP-30907.6
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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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MYL3
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Protein Name
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myosin, light chain 3, alkali; ventricular, skeletal, slow
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Synonyms
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CMH8; MLC1SB; MLC1V; VLC1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000292327
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InnateDB Gene
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IDBG-30905 (MYL3)
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Protein Structure
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Function |
Regulatory light chain of myosin. Does not bind calcium.
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Subcellular Localization |
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Disease Associations |
Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]: 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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. {ECO:0000269PubMed:12021217, ECO:0000269PubMed:12707239, ECO:0000269PubMed:8673105}. 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 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[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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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 |
IPR002048
EF-hand domain
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PFAM |
PF00036
PF13202
PF13405
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PRINTS |
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PIRSF |
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SMART |
SM00054
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TIGRFAMs |
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Modification |
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SwissProt |
P08590
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PhosphoSite |
PhosphoSite-P08590
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TrEMBL |
Q14909
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UniProt Splice Variant |
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Entrez Gene |
4634
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UniGene |
Hs.713332
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RefSeq |
NP_000249
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HUGO |
HGNC:7584
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OMIM |
160790
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CCDS |
CCDS2746
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HPRD |
01183
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IMGT |
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EMBL |
AC109583
AF174483
AK312044
BC009790
CH471055
M24122
M24242
M24243
M24244
M24245
M24246
M24247
M76408
X07373
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GenPept |
AAA59851
AAA59894
AAA59895
AAF91089
AAH09790
BAG34981
CAA30292
EAW64791
EAW64792
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