Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]
MYL5 (Myosin Light Chain 5) is a Protein Coding gene. Diseases associated with MYL5 include Myopathy, Centronuclear, 2 and Primary Cutaneous Amyloidosis. 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 structural constituent of muscle. An important paralog of this gene is MYL7.
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:0005509 | calcium ion binding | IEA | -- |
GO:0008307 | structural constituent of muscle | TAS | 1284596 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005859 | muscle myosin complex | TAS | 1284596 |
GO:0016459 | myosin complex | IEA | -- |
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:0006936 | muscle contraction | TAS | -- |
GO:0006937 | regulation of muscle contraction | TAS | 1284596 |
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 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYL5 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MYL5 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYL5 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MYL5 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MYL5 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | CABZ01076669.1 31 |
|
ManyToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | mlc-1 32 |
|
|
|
mlc-2 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11077 31 |
|
ManyToMany | |
CSA.10194 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2228354 | - | p.Phe88Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759217 | CNV | loss | 17122850 |
esv995514 | CNV | insertion | 20482838 |
nsv10413 | CNV | gain | 18304495 |
nsv1110773 | CNV | insertion | 24896259 |
nsv1143073 | CNV | tandem duplication | 24896259 |
nsv508986 | CNV | insertion | 20534489 |
nsv593206 | CNV | loss | 21841781 |
nsv593208 | CNV | loss | 21841781 |
nsv822425 | CNV | loss | 20364138 |
nsv829834 | CNV | loss | 17160897 |
nsv950325 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, centronuclear, 2 |
|
|
primary cutaneous amyloidosis |
|
|
ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy |
|
|