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Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
MYL4 (Myosin Light Chain 4) is a Protein Coding gene. Diseases associated with MYL4 include Atrial Fibrillation, Familial, 18 and Familial Atrial Fibrillation. Among its related pathways are Guidance Cues and Growth Cone Motility and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin monomer binding. An important paralog of this gene is MYL3.
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003785 | actin monomer binding | IDA | 9180271 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0032038 | myosin II heavy chain binding | NAS | 16675844 |
GO:0051015 | actin filament binding | IMP | 9738905 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0016459 | myosin complex | IEA | -- |
GO:0031672 | A band | IMP | 14985854 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
2 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases |
Cell adhesion Integrin-mediated cell adhesion and migration
.49
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
|
Development MAG-dependent inhibition of neurite outgrowth
.42
Cell adhesion Tight junctions
.32
|
3 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
4 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation by ARP-WASP Complex
.66
|
RhoA Pathway
.35
|
5 | RhoGDI Pathway |
Fc-GammaR-Mediated Phagocytosis in Macrophages
.33
|
RhoGDI Pathway
.33
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002026 | regulation of the force of heart contraction | IMP | 16675844 |
GO:0030049 | muscle filament sliding | TAS | -- |
GO:0032781 | positive regulation of ATPase activity | IMP | 9738905 |
GO:0060048 | cardiac muscle contraction | IMP | 14985854 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 | ||||
(R)-(+)-Blebbistatin | Pharma | non-muscle myosin II ATPases inhibitor, cell-permeable, Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) | 0 | |||
BTS | Pharma | Selective inhibitor of skeletal muscle myosin II ATPase activity | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(+-)-Blebbistatin |
|
674289-55-5 |
|
|
||
(S)-(-)-Blebbistatin |
|
856925-71-8 |
|
|
Compound | Action | Cas Number |
---|---|---|
(+-)-Blebbistatin | Selective inhibitor of myosin II ATPase activity | 674289-55-5 |
(R)-(+)-Blebbistatin | Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) | 1177356-70-5 |
(S)-(-)-Blebbistatin | Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) | 856925-71-8 |
BTS | Selective inhibitor of skeletal muscle myosin II ATPase activity | 1576-37-0 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||
SP7: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYL4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MYL4 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MYL4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYL4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Myl4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Myl4 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MYL4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MYL4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MYL4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | myl4 30 |
|
||
Str.7898 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | cmlc1 31 |
|
OneToMany | |
myl4 30 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7231 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Mlc-c 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | mlc-5 31 |
|
ManyToMany | |
mlc-6 31 |
|
ManyToMany | |||
T12D8.6 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MLC1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.211 31 |
|
ManyToMany | |
CSA.6288 31 |
|
ManyToMany | |||
CSA.6678 31 |
|
ManyToMany | |||
CSA.4806 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
648701 | Uncertain Significance: Atrial fibrillation, familial, 18 | 47,222,379(+) | G/A | SPLICE_ACCEPTOR_VARIANT | |
665264 | Uncertain Significance: Atrial fibrillation, familial, 18 | 47,221,814(+) | C/T | MISSENSE_VARIANT | |
666089 | Uncertain Significance: Atrial fibrillation, familial, 18 | 47,221,859(+) | T/C | INTRON_VARIANT | |
704271 | Likely Benign: not provided | 47,221,713(+) | G/A | SYNONYMOUS_VARIANT | |
705100 | Likely Benign: Atrial fibrillation, familial, 18 | 47,219,992(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1146669 | OTHER | inversion | 26484159 |
Disorder | Aliases | PubMed IDs |
---|---|---|
atrial fibrillation, familial, 18 |
|
|
familial atrial fibrillation |
|
|
atrial fibrillation |
|
|
aortic valve disease 2 |
|
|
myasthenic syndrome, congenital, 7, presynaptic |
|
|