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Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
ACTG1 (Actin Gamma 1) is a Protein Coding gene. Diseases associated with ACTG1 include Deafness, Autosomal Dominant 20 and Baraitser-Winter Syndrome 2. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTB.
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 | IC | 16130169 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0005522 | profilin binding | IDA | 28493397 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 16502470 |
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | ISS,TAS | 16130169 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | 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
|
Cytoskeleton remodeling Integrin outside-in signaling
.37
Cell adhesion Tight junctions
.32
|
2 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
RhoA Pathway
.35
|
3 | Development Slit-Robo signaling |
Development Slit-Robo signaling
.44
Neurophysiological process Receptor-mediated axon growth repulsion
.44
|
Cell adhesion Gap junctions
.30
|
4 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
5 | VEGF Pathway (Qiagen) |
VEGF Family Ligands and Receptor Interactions
.66
VEGF Pathway
.66
|
CCKBR-Gastrin Stimulated Signaling
.36
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IMP | 25705373 |
GO:0001738 | morphogenesis of a polarized epithelium | IMP | 22855531 |
GO:0001895 | retina homeostasis | HEP | 23580065 |
GO:0010628 | positive regulation of gene expression | IMP | 25705373 |
GO:0030335 | positive regulation of cell migration | IMP | 25705373 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Vincristine | Approved, Investigational | Pharma | Microtubule disrupter,antitumor agent | 1073 | ||
Latrunculin A | Experimental | Pharma | Inhibitor of actin assembly and polymerization | 0 | ||
Dihydroartemisinin | Experimental, Investigational | Pharma | Target, ligand | 115 | ||
Thymosin beta-4 | Investigational | Pharma | 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 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7a | · | 7b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | ACTG1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ACTB 31 |
|
ManyToMany | |
ACTG1 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ACTG1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACTG1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Actg1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Actg1 30 17 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | ACTG1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ACTG1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | actg1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | actb2 30 31 |
|
ManyToMany | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5867 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Act42A 32 |
|
|
|
Act87E 31 32 |
|
ManyToMany | |||
Act88F 32 |
|
|
|||
Act57B 32 |
|
|
|||
Act79B 32 |
|
|
|||
Act5C 30 32 |
|
||||
Arp53D 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | ACT5C_ANOGA 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | act-2 32 |
|
|
|
act-3 31 32 |
|
ManyToMany | |||
act-1 32 |
|
|
|||
act-5 31 32 |
|
ManyToMany | |||
act-4 30 |
|
||||
F42C5.9 32 |
|
|
|||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABR222W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D05357g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ACT1 30 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ACT2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0718100 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11314 31 |
|
ManyToMany | |
CSA.11006 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04173 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | act1 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639093 | Conflicting Interpretations: Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2; not provided | 81,511,217(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
667062 | Likely Benign: not specified | 81,510,777(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
667399 | Likely Pathogenic: Rare genetic deafness | 81,510,816(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
689622 | Uncertain Significance: Baraitser-Winter Syndrome 2 | 81,510,818(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
703864 | Benign: Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 | 81,511,034(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv26223 | CNV | gain+loss | 19812545 |
nsv428351 | CNV | gain | 18775914 |
nsv457973 | CNV | loss | 19166990 |
nsv576176 | CNV | loss | 21841781 |
nsv828128 | CNV | loss | 20364138 |
nsv833567 | CNV | loss | 17160897 |
nsv833568 | CNV | loss | 17160897 |
nsv952389 | CNV | deletion | 24416366 |
nsv978468 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal dominant 20 |
|
|
baraitser-winter syndrome 2 |
|
|
baraitser-winter cerebrofrontofacial syndrome |
|
|
autosomal dominant non-syndromic sensorineural deafness type dfna |
|
|
coloboma, ocular, autosomal dominant |
|
|