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MYLPF (Myosin Light Chain, Phosphorylatable, Fast Skeletal Muscle) is a Protein Coding gene. Diseases associated with MYLPF include Distal Arthrogryposis and Myopathy, Centronuclear, 2. 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 MYL10.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0008307 | structural constituent of muscle | ISS | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0005829 | cytosol | TAS | -- |
GO:0005859 | muscle myosin complex | TAS | 6179945 |
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:0006955 | immune response | IEA | -- |
GO:0007519 | skeletal muscle tissue development | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYLPF 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MYLPF 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYLPF 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MYLPF 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MYLPF 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mylpf 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mylpf 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | MYLPF 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mylpf 30 |
|
||
MGC75669 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.6263 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mylpfa 31 |
|
OneToMany | |
mylpfb 30 31 |
|
OneToMany | |||
mylz2 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9038 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | mlc-2 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11077 31 |
|
ManyToMany | |
CSA.10194 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
916685 | Likely Pathogenic: Distal arthrogryposis | 30,377,860(+) | G/T | MISSENSE_VARIANT | |
916686 | Likely Pathogenic: Distal arthrogryposis | 30,377,859(+) | T/C | MISSENSE_VARIANT | |
916687 | Likely Pathogenic: Distal arthrogryposis | 30,377,877(+) | G/A | MISSENSE_VARIANT | |
916688 | Likely Pathogenic: Distal arthrogryposis | 30,376,146(+) | C/T | MISSENSE_VARIANT | |
rs386352335 | Uncertain Significance: not provided | 30,377,821(+) | C/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
distal arthrogryposis |
|
|
myopathy, centronuclear, 2 |
|
|
primary cutaneous amyloidosis |
|
|