Entity Details

Primary name MYL3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP08590
EntryNameMYL3_HUMAN
FullNameMyosin light chain 3
TaxID9606
Evidenceevidence at protein level
Length195
SequenceStatuscomplete
DateCreated1988-08-01
DateModified2021-06-02

Ontological Relatives

GenesMYL3

GO terms

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GOName
GO:0002026 regulation of the force of heart contraction
GO:0003774 cytoskeletal motor activity
GO:0003785 actin monomer binding
GO:0005509 calcium ion binding
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0006942 regulation of striated muscle contraction
GO:0007519 skeletal muscle tissue development
GO:0008307 structural constituent of muscle
GO:0030017 sarcomere
GO:0030049 muscle filament sliding
GO:0031672 A band
GO:0031674 I band
GO:0032038 myosin II heavy chain binding
GO:0032781 positive regulation of ATPase activity
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction

Subcellular Location

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Domains

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DomainNameCategoryType
IPR002048 EF-hand domainDomainDomain
IPR011992 EF-hand domain pairFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
608751 OMIMCardiomyopathy, familial hypertrophic 8 (CMH8)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions