Free for academic non-profit institutions. Other users need a Commercial license
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
ACTA1 (Actin Alpha 1, Skeletal Muscle) is a Protein Coding gene. Diseases associated with ACTA1 include Myopathy, Scapulohumeroperoneal and Nemaline Myopathy 3. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton and myosin binding. An important paralog of this gene is ACTC1.
Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states: G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005200 | structural constituent of cytoskeleton | TAS | 10508519 |
GO:0005515 | protein binding | IPI | 12849983 |
GO:0005524 | ATP binding | IEA,TAS | 10508519 |
GO:0017022 | myosin binding | TAS | 10508519 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001725 | stress fiber | IBA,IDA | 15198992 |
GO:0005615 | extracellular space | HDA | 23580065 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
RhoA Pathway
.35
|
2 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
3 | VEGF Pathway (Qiagen) |
VEGF Family Ligands and Receptor Interactions
.66
VEGF Pathway
.66
|
CCKBR-Gastrin Stimulated Signaling
.36
|
4 | fMLP Pathway |
CCR3 Pathway in Eosinophils
.44
fMLP Pathway
.43
|
Internalin Pathway
.31
|
5 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006936 | muscle contraction | TAS | 10508519 |
GO:0009612 | response to mechanical stimulus | IEA | -- |
GO:0009991 | response to extracellular stimulus | IEA | -- |
GO:0010226 | response to lithium ion | IEA | -- |
GO:0010628 | positive regulation of gene expression | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Furan | Approved, Experimental, Investigational | Pharma | Target | 0 | ||
Latrunculin A | Experimental | Pharma | Target, inhibitor | Inhibitor of actin assembly and polymerization | 0 | |
1-Methylhistidine | Experimental | Pharma | Target | 0 | ||
Aplyronine A | Experimental | Pharma | Target | 0 | ||
Jaspisamide A | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
187-1, N-WASP inhibitor | N-WASP inhibitor; inhibits actin assembly | 380488-27-7 |
CK 666 | Arp2/3 inhibitor; inhibits actin polymerization | 442633-00-3 |
CK 869 | Arp2/3 inhibitor; inhibits actin polymerization | 388592-44-7 |
Latrunculin A | Inhibitor of actin assembly and polymerization | 76343-93-6 |
Wiskostatin | N-WASP inhibitor; inhibits Arp2/3 activation | 253449-04-6 |
Compound | Action | Cas Number |
---|---|---|
CK 666 | 442633-00-3 | |
CK 869 | 388592-44-7 | |
Cytochalasin D | inhibitor of actin polymerization, selective | 22144-77-0 |
Jasplakinolide | 102396-24-7 | |
Latrunculin A | 76343-93-6 | |
Phalloidin | 17466-45-4 | |
SMIFH2 | 340316-62-3 | |
Wiskostatin | 253449-04-6 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | ACTA1 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | ACTA1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | ACTA1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACTA1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Acta1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Acta1 30 |
|
||
Chicken (Gallus gallus) |
Aves | ACTA1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ACTA1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | act3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | actc1a 31 |
|
ManyToMany | |
acta1a 31 |
|
ManyToMany | |||
zgc:86709 31 |
|
ManyToMany | |||
hm:zewp0073 31 |
|
ManyToMany | |||
actc1b 31 |
|
ManyToMany | |||
acta1b 30 31 |
|
ManyToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Act42A 32 |
|
|
|
Act5C 32 |
|
|
|||
Act87E 32 |
|
|
|||
Act57B 32 |
|
|
|||
Act79B 32 |
|
|
|||
Act88F 32 |
|
|
|||
Arp53D 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | act-2 32 |
|
|
|
act-1 32 |
|
|
|||
act-3 32 |
|
|
|||
act-5 32 |
|
|
|||
F42C5.9 32 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G42100 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.4344 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636712 | Uncertain Significance: not provided | 229,431,587(-) | G/A | MISSENSE_VARIANT | |
639455 | Pathogenic: Congenital myopathy with excess of thin filaments; not provided | 229,433,007(-) | C/G | MISSENSE_VARIANT | |
642798 | Conflicting Interpretations: Congenital myopathy with excess of thin filaments; not specified | 229,433,079(-) | C/T | MISSENSE_VARIANT | |
642876 | Uncertain Significance: Congenital myopathy with excess of thin filaments | 229,432,089(-) | A/G | MISSENSE_VARIANT | |
644740 | Pathogenic: Congenital myopathy with excess of thin filaments | 229,432,329(-) | T/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, scapulohumeroperoneal |
|
|
nemaline myopathy 3 |
|
|
congenital fiber-type disproportion |
|
|
myopathy, congenital, with fiber-type disproportion |
|
|
zebra body myopathy |
|
|