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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 c... See more...
Aliases for ACTG1 Gene
Aliases for ACTG1 Gene
External Ids for ACTG1 Gene
- HGNC: 144
- Entrez Gene: 71
- Ensembl: ENSG00000184009
- OMIM: 102560
- UniProtKB: P63261
Previous HGNC Symbols for ACTG1 Gene
- ACTG
- DFNA20
- DFNA26
Previous GeneCards Identifiers for ACTG1 Gene
- GC17U990001
- GC17P080051
- GC17M080178
- GC17M080179
- GC17M077091
- GC17M079476
- GC17M074925
Summaries for ACTG1 Gene
-
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]
GeneCards Summary for ACTG1 Gene
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.
UniProtKB/Swiss-Prot Summary for ACTG1 Gene
-
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
-
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.
Additional gene information for ACTG1 Gene
- HGNC(144)
- Entrez Gene(71)
- Ensembl(ENSG00000184009)
- OMIM(102560)
- UniProtKB(P63261)
- Open Targets Platform(ENSG00000184009)
- Monarch Initiative
- Search for ACTG1 at DataMed
- Search for ACTG1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTG1 Gene
Genomics for ACTG1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ACTG1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ACTG1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTG1
- Top Transcription factor binding sites by QIAGEN in the ACTG1 gene promoter:
-
- AP-4
- c-Myb
- E2F
- E2F-1
- Meis-1
- Meis-1a
- Meis-1b
- p53
- Pax-4a
- TGIF
Genomic Locations for ACTG1 Gene
Genomic Locations for ACTG1 Gene
- chr17:81,509,971-81,523,847
- (GRCh38/hg38)
- Size:
- 13,877 bases
- Orientation:
- Minus strand
- chr17:79,476,997-79,490,873
- (GRCh37/hg19)
- Size:
- 13,877 bases
- Orientation:
- Minus strand
Genomic View for ACTG1 Gene
Genes around ACTG1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.3 by HGNC
- 17q25.3 by Entrez Gene
- 17q25.3 by Ensembl
ACTG1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ACTG1 Gene
Proteins for ACTG1 Gene
-
Protein details for ACTG1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P63261-ACTG_HUMAN
- Recommended name:
- Actin, cytoplasmic 2
- Protein Accession:
- P63261
- A8K7C2
- P02571
- P14104
- P99022
- Q5U032
- Q96E67
Protein attributes for ACTG1 Gene
- Size:
- 375 amino acids
- Molecular mass:
- 41793 Da
- Quaternary structure:
-
- Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Interacts with TWF1, CAPZB, cofilin and profilin (PubMed:28493397).
- Miscellaneous:
-
- In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.
Protein Expression for ACTG1 Gene
Post-translational modifications for ACTG1 Gene
- Oxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization.
- Monomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.
- [Actin, cytoplasmic 2, N-terminally processed]: N-terminal acetylation by NAA80 affects actin filament depolymerization and elongation, including elongation driven by formins (PubMed:29581253). In contrast, filament nucleation by the Arp2/3 complex is not affected (PubMed:29581253).
- Methylated at His-73 by SETD3.
- (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-50 of one monomer and Glu-270 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).
-
Ubiquitination at Lys18
- NX_P63261 (NX_P63261-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ACTG1 Gene
Antibody Products
- LifeSpan BioSciences ACTG1 / Gamma Actin Antibody and ACTG1 / Gamma Actin Monoclonal Antibody
- RayBiotech Rabbit anti-Human ACTG
- NSJ Bioreagents Actin Antibody (gamma, ACTG1)
- Creative Diagnostics Anti-ACTG1 monoclonal antibody, clone 3B4
-
Custom Antibody ServicesOriGene Antibodies for ACTG1
- Novus Biologicals Antibodies for ACTG1
-
Abcam antibodies for ACTG1
- Invitrogen Antibodies for ACTG1 (AFLGC-ACTG1)
-
Boster Bio Antibodies for ACTG1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACTG1
Protein Products
- RayBiotech Recombinant Human Actin, gamma 1
- Search Origene for MassSpec and Protein Over-expression Lysates for ACTG1
- Origene Custom Protein Services for ACTG1
-
Signalway Proteins for ACTG1
-
ProSci Proteins for ACTG1
-
Abcam proteins for ACTG1
Assay Products
- G Biosciences Immunotag™ Human ACTG1 (Actin Gamma 1) ELISA
- Novus Biologicals ELISA Kits for ACTG1
-
Signalway ELISA kits for ACTG1
-
Abcam assays for ACTG1
No data available for DME Specific Peptides for ACTG1 Gene
Domains & Families for ACTG1 Gene
Gene Families for ACTG1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for ACTG1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACTG1 Gene
- GenScript: Design optimal peptide antigens:
-
- Gamma-actin (ACTG_HUMAN)
- ACTG1 protein (Q6PJ43_HUMAN)
- ACTG1 protein (Q96FU6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P63261- Family:
-
- Belongs to the actin family.
Function for ACTG1 Gene
Molecular function for ACTG1 Gene
- UniProtKB/Swiss-Prot Function:
- Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
- GENATLAS Biochemistry:
- actin,gamma,cytoplasmic 1 major constituent of microfilaments
Phenotypes From GWAS Catalog for ACTG1 Gene
| 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 | -- |
Phenotypes for ACTG1 Gene
- MGI mutant phenotypes for ACTG1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for ACTG1:
Animal Models for ACTG1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACTG1 - Select products 50% OFF >
- * ACTG1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ACTG1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACTG1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACTG1
miRNA for ACTG1 Gene
- miRTarBase miRNAs that target ACTG1
-
- mmu-let-7b-5p (MIRT001732)
- hsa-let-7b-5p (MIRT001852)
- hsa-miR-16-5p (MIRT031957)
- hsa-miR-1307-3p (MIRT035814)
- hsa-miR-1180-3p (MIRT035953)
- hsa-miR-1227-3p (MIRT036397)
- hsa-miR-1226-3p (MIRT036487)
- hsa-miR-935 (MIRT036673)
- hsa-miR-877-3p (MIRT037047)
- hsa-miR-877-5p (MIRT037360)
- hsa-miR-744-5p (MIRT037421)
- hsa-miR-423-5p (MIRT038157)
- hsa-miR-99b-3p (MIRT038520)
- hsa-miR-769-3p (MIRT039133)
- hsa-miR-652-3p (MIRT039560)
- hsa-miR-193b-3p (MIRT041197)
- hsa-miR-331-3p (MIRT043297)
- hsa-miR-326 (MIRT043651)
- hsa-miR-342-3p (MIRT043711)
- hsa-miR-361-5p (MIRT044076)
- hsa-miR-99b-5p (MIRT044186)
- hsa-miR-320a (MIRT044776)
- hsa-miR-149-5p (MIRT045649)
- hsa-miR-222-3p (MIRT046782)
- hsa-miR-221-3p (MIRT046971)
- hsa-miR-34a-5p (MIRT047350)
- hsa-miR-10b-5p (MIRT047480)
- hsa-miR-10a-5p (MIRT047724)
- hsa-miR-197-3p (MIRT048069)
- bta-miR-10a (MIRT053799)
- bta-miR-145 (MIRT053907)
- hsa-miR-4776-3p (MIRT509549)
- hsa-miR-5006-5p (MIRT509550)
- hsa-miR-3972 (MIRT509551)
- hsa-miR-1202 (MIRT509552)
- hsa-miR-6867-5p (MIRT509553)
- hsa-miR-4316 (MIRT509554)
- hsa-miR-3650 (MIRT509555)
- hsa-miR-621 (MIRT509556)
- hsa-miR-4755-3p (MIRT509557)
- hsa-miR-6134 (MIRT509558)
- hsa-miR-7854-3p (MIRT509559)
- hsa-miR-3188 (MIRT509560)
- hsa-miR-6884-5p (MIRT509561)
- hsa-miR-485-5p (MIRT509562)
- hsa-miR-2467-5p (MIRT509563)
- hsa-miR-3975 (MIRT509564)
- hsa-miR-6743-5p (MIRT509565)
- hsa-miR-4688 (MIRT509566)
- hsa-miR-3658 (MIRT563831)
- hsa-miR-3653-3p (MIRT563832)
- hsa-miR-6507-5p (MIRT563833)
- hsa-miR-152-5p (MIRT737877)
- hsa-miR-182-3p (MIRT738052)
- hsa-miR-3123 (MIRT739987)
- hsa-miR-3194-5p (MIRT741053)
- hsa-miR-3925-5p (MIRT742998)
- hsa-miR-517-5p (MIRT749810)
- hsa-miR-518d-5p (MIRT749907)
- hsa-miR-518e-5p (MIRT749912)
- hsa-miR-518f-5p (MIRT749916)
- hsa-miR-519a-5p (MIRT750120)
- hsa-miR-519b-5p (MIRT750138)
- hsa-miR-519c-5p (MIRT750156)
- hsa-miR-520c-5p (MIRT750219)
- hsa-miR-520g-5p (MIRT750258)
- hsa-miR-522-5p (MIRT750272)
- hsa-miR-523-5p (MIRT750278)
- hsa-miR-526a (MIRT750312)
- hsa-miR-539-5p (MIRT750343)
- hsa-miR-589-3p (MIRT751558)
- hsa-miR-597-3p (MIRT751612)
- hsa-miR-605-5p (MIRT751664)
- hsa-miR-6819-3p (MIRT756839)
- hsa-miR-6849-3p (MIRT757528)
- hsa-miR-6877-3p (MIRT758173)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACTG1
- Browse OriGene Inhibitory RNA Products For ACTG1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTG1
Clone Products
- Applied Biological Materials (abm): Clones for ACTG1 - Select products 50% OFF >
- * ACTG1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG205824
- MG205832
- MR205824
- MR205824L3
- MR205824L4
- MR205832
- MR205832L3
- MR205832L4
- RC201730
- RC201730L1
- RC201730L2
- RC201730L3
- RC201730L4
- RC232600
- RG201730
- RG232600
- RR213916
- RR213916L3
- RR213916L4
- MR205824L3V
- MR205824L4V
- MR205832L3V
- MR205832L4V
- RC201730L1V
- RC201730L2V
- RC201730L3V
- RC201730L4V
- RR213916L3V
- RR213916L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACTG1
- Addgene plasmids for ACTG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACTG1
Cell Line Products
-
Horizon Cell Lines for ACTG1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ACTG1 Gene
Localization for ACTG1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ACTG1 Gene
- Cytoplasm, cytoskeleton.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| mitochondrion | 3 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTG1 Gene
Pathways & Interactions for ACTG1 Gene
| 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
|
Pathways by source for ACTG1 Gene
8 BioSystems pathways for ACTG1 Gene
13 Reactome pathways for ACTG1 Gene
27 GeneGo (Thomson Reuters) pathways for ACTG1 Gene
- Cell adhesion Gap junctions
- Cell adhesion Integrin inside-out signaling
- Cell adhesion Integrin-mediated cell adhesion and migration
- Cell adhesion Tight junctions
- Cell adhesion_Cadherin-mediated cell adhesion
43 Qiagen pathways for ACTG1 Gene
- Actin Nucleation and Branching
- Actin Nucleation by ARP-WASP Complex
- Actin-Based Motility by Rho Family GTPases
- Agrin Interactions at Neuromuscular Junction
- Antioxidant Action of Vitamin-C
1 Cell Signaling Technology pathway for ACTG1 Gene
Interacting Proteins for ACTG1 Gene
Selected Interacting proteins:
P63261-ACTG_HUMAN
ENSP00000458162
for ACTG1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ACTG1
| 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 |
Drugs & Compounds for ACTG1 Gene
| 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 |
|---|
(5) Tocris Compounds for ACTG1 Gene
| 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 |
(8) ApexBio Compounds for ACTG1 Gene
| 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 |
Transcripts for ACTG1 Gene
mRNA/cDNA for ACTG1 Gene
- 2 REFSEQ mRNAs :
- 27 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000573283 1919 nts (view in UCSC)
- ENST00000575842 2256 nts (view in UCSC)
- ENST00000576917 1958 nts (view in UCSC)
- ENST00000574671 1678 nts (view in UCSC)
- ENST00000576209 1698 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACTG1 - Select products 50% OFF >
- * ACTG1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ACTG1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACTG1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACTG1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACTG1
- Browse OriGene Inhibitory RNA Products For ACTG1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTG1
Clone Products
- Applied Biological Materials (abm): Clones for ACTG1 - Select products 50% OFF >
- * ACTG1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG205824
- MG205832
- MR205824
- MR205824L3
- MR205824L4
- MR205832
- MR205832L3
- MR205832L4
- RC201730
- RC201730L1
- RC201730L2
- RC201730L3
- RC201730L4
- RC232600
- RG201730
- RG232600
- RR213916
- RR213916L3
- RR213916L4
- MR205824L3V
- MR205824L4V
- MR205832L3V
- MR205832L4V
- RC201730L1V
- RC201730L2V
- RC201730L3V
- RC201730L4V
- RR213916L3V
- RR213916L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACTG1
- Addgene plasmids for ACTG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACTG1
| 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: | - |
Relevant External Links for ACTG1 Gene
- GeneLoc Exon Structure for
- ACTG1
Expression for ACTG1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Smooth Muscle (Muscoskeletal System)
- Endoderm (Gastrulation Derivatives)
-
Tonsil (Hematopoietic System)
This gene is overexpressed in Bone marrow stromal cell (6.7) and Skin (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACTG1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTG1
SOURCE GeneReport for Unigene cluster for ACTG1 Gene:
Hs.514581Evidence on tissue expression from TISSUES for ACTG1 Gene
- Nervous system(5)
- Skin(5)
- Lung(5)
- Eye(5)
- Blood(5)
- Muscle(5)
- Pancreas(5)
- Intestine(5)
- Kidney(4.9)
- Liver(4.9)
- Bone(4.8)
- Stomach(4.8)
- Heart(4.1)
- Lymph node(3.8)
- Spleen(3.8)
- Thyroid gland(3.8)
- Bone marrow(3.7)
- Adrenal gland(3.5)
- Gall bladder(3.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTG1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- inner ear
- jaw
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- scalp
- skull
Thorax:
- aorta
- heart
- heart valve
Abdomen:
- kidney
Pelvis:
- penis
- testicle
Limb:
- ankle
- digit
- elbow
- finger
- foot
- forearm
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
Primer Products
-
OriGene qPCR primer pairs for ACTG1
-
OriGene qPCR primer pairs and template standards for ACTG1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ACTG1 Gene
Orthologs for ACTG1 Gene
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 |
|
- Species where no ortholog for ACTG1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ACTG1 Gene
- ENSEMBL:
- Gene Tree for ACTG1 (if available)
- TreeFam:
- Gene Tree for ACTG1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ACTG1: view image
Paralogs for ACTG1 Gene
Paralogs for ACTG1 Gene
(32) SIMAP similar genes for ACTG1 Gene using alignment to 9 proteins:
- ACTG_HUMAN
- I3L1U9_HUMAN
- I3L3I0_HUMAN
- I3L3R2_HUMAN
- I3L4N8_HUMAN
- J3KT65_HUMAN
- K7EM38_HUMAN
- Q6PJ43_HUMAN
- Q96FU6_HUMAN
Pseudogenes.org Pseudogenes for ACTG1 Gene
- PGOHUM00000292902
- PGOHUM00000292935
- PGOHUM00000293043
- PGOHUM00000293608
- PGOHUM00000295723
- PGOHUM00000295746
- PGOHUM00000296067
- PGOHUM00000296261
- PGOHUM00000296727
- PGOHUM00000296827
- PGOHUM00000297037
- PGOHUM00000297598
- PGOHUM00000298443
- PGOHUM00000298612
- PGOHUM00000299101
- PGOHUM00000299277
- PGOHUM00000299346
- PGOHUM00000299613
- PGOHUM00000300648
- PGOHUM00000301490
- PGOHUM00000301580
- PGOHUM00000301804
- PGOHUM00000303609
- PGOHUM00000304104
- PGOHUM00000304420
- PGOHUM00000304636
- PGOHUM00000305494
- PGOHUM00000305682
- PGOHUM00000290195
Variants for ACTG1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTG1 Gene
| 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 |
Residual Variation Intolerance Score:
2.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.48;
10.37% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ACTG1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTG1 Gene
Disorders for ACTG1 Gene
(38) MalaCards diseases for ACTG1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| 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 |
|
|
Search ACTG1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ACTG_HUMAN- Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:13680526, ECO:0000269 PubMed:14684684, ECO:0000269 PubMed:16773128, ECO:0000269 PubMed:18804074, ECO:0000269 PubMed:19477959, ECO:0000269 PubMed:22938506, ECO:0000269 PubMed:25388789}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. {ECO:0000269 PubMed:22366783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=Defects in ACTG1 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269 PubMed:28493397}.
Additional Disease Information for ACTG1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Database
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ACTG1 Gene
Publications for ACTG1 Gene
- Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). (PMID: 13680526) Zhu M … Friderici KH (American journal of human genetics 2003) 3 4 23 41
- A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). (PMID: 14684684) van Wijk E … Kremer H (Journal of medical genetics 2003) 2 3 4 23
- Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. (PMID: 18804074) Liu P … Liu M (Journal of genetics and genomics = Yi chuan xue bao 2008) 3 4 23
- A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. (PMID: 28493397) Rainger J … FitzPatrick DR (Human mutation 2017) 3 4
- De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. (PMID: 22366783) Rivière JB … Dobyns WB (Nature genetics 2012) 3 4
ExternalLinks
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