MYL3 Gene Summary [Human]
MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MYL3 |
| Official Name | myosin light chain 3 [Source:HGNC Symbol;Acc:HGNC:7584] |
| Ensembl ID | ENSG00000160808 |
| Bio databases IDs | |
| Aliases | myosin light chain 3 |
| Synonyms | Alkali Myosin Light Chain 1, CMH8, Cmlc1, ELC, Elc1v, Elcv1, MLC1s, MLC1SB, MLC1V, MLClV, MLC-lV/sb, Mylc, Mylc1v, myosin light chain 3, myosin, light polypeptide 3, rVMLC1, VELC, Ventricular Myosin Essential Light Chain, VLC1, VLCl |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MYL3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of muscle
- actin monomer binding
- EF-hand domain pair
- EFh
- motor protein
Pathways
Biological processes and signaling networks where the MYL3 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Actin Cytoskeleton Signaling
- Agranulocyte Adhesion and Diapedesis
- Apelin Cardiomyocyte Signaling Pathway
- Calcium Signaling
- Cardiac Hypertrophy Signaling
- Cdc42 Signaling
- Cellular Effects of Sildenafil (Viagra)
- CXCR4 Signaling
- Ephrin A Signaling
- Estrogen Receptor Signaling
- G-Protein Coupled Receptor Signaling
- Gα12/13 Signaling
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- ILK Signaling
- PAK Signaling
- Phagosome Formation
- Regulation of Actin-based Motility by Rho
- RhoA Signaling
- RhoGDI Signaling
- Signaling by Rho Family GTPases
- Thrombin Signaling
- Tight Junction Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertrophic cardiomyopathy
- amyotrophic lateral sclerosis
- breast carcinoma
- familial hypertrophic cardiomyopathy-8
- androgenic alopecia
- destabilization of medial meniscus-induced osteoarthritis
- familial hypertrophic cardiomyopathy
- cardiomyopathy
- microalbuminuria
- coronary artery disease
role in cell
- expression in
- senescence
- organization
- autophagy in
- binding in
- Clathrin mediated endocytosis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- myofilaments
- sarcomere
- cytosol
- I band
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of the force of heart contraction
- ventricular cardiac muscle tissue morphogenesis
- positive regulation of ATPase activity
- cardiac muscle contraction
- regulation of striated muscle contraction
Cellular Component
Where in the cell the gene product is active
- muscle myosin complex
- myosin II complex
- cytosol
- I band
- A band
- sarcomere
Molecular Function
What the gene product does at the molecular level
- structural constituent of muscle
- calcium ion binding
- myosin II heavy chain binding
- actin monomer binding