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Details on Person UniProt:P13533 MYH6
| Class:Id | ReferenceGeneProduct:59793 |
|---|---|
| _chainChangeLog | chain:1-1939 added on Sat February 7 2015 |
| _displayName | UniProt:P13533 MYH6 |
| _timestamp | 2024-11-03 20:15:26 |
| chain | chain:1-1939 |
| checksum | 424211CC048C8004 |
| comment | FUNCTION Muscle contraction.SUBUNIT Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).SUBCELLULAR LOCATION Thick filaments of the myofibrils.DOMAIN The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.DOMAIN Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry. The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers.MISCELLANEOUS The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase.SIMILARITY Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.CAUTION Represents a conventional myosin. This protein should not be confused with the unconventional myosin-6 (MYO6). |
| description | recommendedName: Myosin-6 alternativeName: Myosin heavy chain 6 alternativeName: Myosin heavy chain, cardiac muscle alpha isoform shortName: MyHC-alpha |
| geneName | MYH6 MYHCA |
| identifier | P13533 |
| isSequenceChanged | FALSE |
| keyword | Actin-binding ATP-binding Atrial septal defect Calmodulin-binding Cardiomyopathy Coiled coil Cytoplasm Disease variant Methylation Motor protein Muscle protein Myosin Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome Thick filament |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | MYH6 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8999011] ENSEMBL:ENSG00000197616 MYH6 [Homo sapiens] |
| secondaryIdentifier | MYH6_HUMAN A2RTX1 D9YZU2 Q13943 Q14906 Q14907 |
| sequenceLength | 1939 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:390563] MYH6 [cytosol] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:P13533 MYH6 (59793)
