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 ERK Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. 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 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
- Monarch Initiative
- Search for ACTG1 at DataMed
- Search for ACTG1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTG1 Gene
Genomics for ACTG1 Gene
GeneHancer (GH) Regulatory Elements for ACTG1 Gene
Promoters and enhancers for ACTG1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ACTG1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ACTG1 gene promoter:
-
- Pax-4a
- p53
- AP-4
- E2F
- c-Myb
- TGIF
- Meis-1
- Meis-1a
- Meis-1b
- E2F-1
Regulatory Element Products
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 Entrez Gene
- 17q25.3 by HGNC
- 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
- The methylhistidine determined by Bienvenut et al is assumed to be the tele-methylhistidine isomer by similarity to the mouse ortholog.
- 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 (By similarity).
- 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.
- (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 posLast=1818
- Modification sites at PhosphoSitePlus
Other Protein References for ACTG1 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ACTG1
- Novus Biologicals Antibodies for ACTG1
- Invitrogen Antibodies for ACTG1
- GeneTex ACTG1 Antibody for ACTG1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACTG1
Protein Products
-
OriGene Purified Proteins for ACTG1
- Search Origene for MassSpec and Protein Over-expression Lysates for ACTG1
- Origene Custom Protein Services for ACTG1
- GeneTex Proteins for ACTG1
-
ProSci Proteins 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:
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:0005200 | structural constituent of cytoskeleton | IC | 16130169 |
| GO:0005515 | protein binding | IPI | 14743216 |
| GO:0005522 | profilin binding | IDA | 28493397 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0031625 | ubiquitin protein ligase binding | IPI | 21753002 |
Phenotypes for ACTG1 Gene
- MGI mutant phenotypes for ACTG1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for ACTG1:
-
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased viability
- Increased cell migration
- Decreased cell migration
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- shRNA abundance <= 50%
Animal Models for ACTG1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACTG1
-
CRISPR Products
-
OriGene CRISPR knockouts for ACTG1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACTG1
- genomics-online: gRNA clones - Search results for available ACTG1 gene related products
- Applied Biological Materials CRISPR for ACTG1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACTG1
- GenScript: Design CRISPR guide RNA sequences for ACTG1
miRNA for ACTG1 Gene
- miRTarBase miRNAs that target ACTG1
-
- 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
- genomics-online: shRNA clones - Search results for available ACTG1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ACTG1
- VectorBuilder custom plasmid, inducible vectors for ACTG1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACTG1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ACTG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACTG1
- genomics-online: cdna clones - Search results for available ACTG1 gene related products
- orf clones - Search results for available ACTG1 gene related products
- Applied Biological Materials Clones for ACTG1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 | 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 | TAS,ISS | 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 | Development Slit-Robo signaling | ||
| 2 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases | ||
| 3 | Actin Nucleation by ARP-WASP Complex |
.41
.35
|
|
| 4 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
| 5 | PAK Pathway |
.56
|
|
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
43 Qiagen pathways for ACTG1 Gene
1 Cell Signaling Technology pathway for ACTG1 Gene
Interacting Proteins for ACTG1 Gene
Selected Interacting proteins:
P63261-ACTG_HUMAN
ENSP00000331514
for ACTG1 Gene via
IID
UniProtKB
MINT
STRING
GPS-Prot Interaction Network for ACTG1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001895 | retina homeostasis | HEP | 23580065 |
| GO:0009612 | response to mechanical stimulus | IEA | -- |
| GO:0034329 | cell junction assembly | TAS | -- |
| GO:0038096 | Fc-gamma receptor signaling pathway involved in phagocytosis | TAS | -- |
| GO:0045214 | sarcomere organization | IEA | -- |
Drugs & Compounds for ACTG1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Copper | Approved, Investigational | Pharma | Target | 202 | ||
| Dihydroartemisinin | Approved, Investigational | Pharma | Target, ligand | 100 | ||
| Vincristine | Approved, Investigational | Pharma | Microtubule disrupter,antitumor agent | 965 | ||
| Latrunculin A | Experimental | Pharma | Inhibitor of actin assembly and polymerization | 0 | ||
| 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 :
- (26) Additional mRNA sequences :
- (231) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000331925 2011 bps (uc002kal.3)
- ENST00000570382 471 bps (uc060lkb.1)
- ENST00000571691 761 bps (uc060ljx.1)
- ENST00000571721 813 bps (uc060lka.1)
- ENST00000572105 1168 bps (uc060lju.1)
Unigene Clusters for ACTG1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ACTG1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACTG1
- genomics-online: gRNA clones - Search results for available ACTG1 gene related products
- Applied Biological Materials CRISPR for ACTG1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACTG1
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for available ACTG1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ACTG1
- VectorBuilder custom plasmid, inducible vectors for ACTG1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACTG1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ACTG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACTG1
- genomics-online: cdna clones - Search results for available ACTG1 gene related products
- orf clones - Search results for available ACTG1 gene related products
- Applied Biological Materials Clones for ACTG1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - |
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
NURSA nuclear receptor signaling pathways regulating expression of ACTG1 Gene:
ACTG1SOURCE GeneReport for Unigene cluster for ACTG1 Gene:
Hs.514581Evidence on tissue expression from TISSUES for ACTG1 Gene
- Blood(5)
- Eye(5)
- Lung(5)
- Muscle(5)
- Skin(5)
- Nervous system(5)
- Intestine(4.9)
- Kidney(4.9)
- Liver(4.9)
- Pancreas(4.9)
- Bone(4.7)
- Stomach(4.7)
- Heart(3.6)
- Spleen(3)
- Lymph node(2.9)
- Thyroid gland(2.9)
- Gall bladder(2.8)
- Adrenal gland(2.6)
- Bone marrow(2.6)
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 and template standards for ACTG1
-
OriGene qPCR primer pairs for ACTG1
- genomics-online: primer clones - Search results for available ACTG1 gene related products
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 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ACTB 34 |
|
ManyToMany | |
| ACTG1 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ACTG1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ACTG1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Actg1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Actg1 16 34 33 |
|
||
| chimpanzee (Pan troglodytes) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | ACTG1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ACTG1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | actg1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | actb2 34 33 |
|
ManyToMany | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5867 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Act42A 35 |
|
|
|
| Act87E 34 35 |
|
ManyToMany | |||
| Act88F 35 |
|
|
|||
| Act57B 35 |
|
|
|||
| Act79B 35 |
|
|
|||
| Act5C 35 33 |
|
||||
| Arp53D 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | ACT5C_ANOGA 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | act-2 35 |
|
|
|
| act-3 34 35 |
|
ManyToMany | |||
| act-1 35 |
|
|
|||
| act-5 34 35 |
|
ManyToMany | |||
| act-4 33 |
|
||||
| F42C5.9 35 |
|
|
|||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ABR222W 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D05357g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ACT1 34 33 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | ACT2 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0718100 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.11314 34 |
|
ManyToMany | |
| CSA.11006 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU04173 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | act1 33 |
|
- 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 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
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894544 | pathogenic, Deafness, autosomal dominant 20, Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] | 81,511,913(-) | T/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs104894545 | pathogenic, Deafness, autosomal dominant 20, Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] | 81,510,824(-) | G/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs104894546 | pathogenic, Deafness, autosomal dominant 20, Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] | 81,511,199(-) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs104894547 | pathogenic, Deafness, autosomal dominant 20, Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] | 81,510,709(-) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1057518673 | likely-pathogenic, Baraitser-Winter Syndrome 2 | 81,512,237(-) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_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
(18) MalaCards diseases for ACTG1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal dominant 20 |
|
|
| baraitser-winter syndrome 2 |
|
|
| coloboma, ocular, autosomal dominant |
|
|
| autosomal dominant non-syndromic sensorineural deafness type dfna |
|
|
| baraitser-winter syndrome |
|
|
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
No data available for Genatlas for ACTG1 Gene
Publications for ACTG1 Gene
- 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 22 58
- 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 22 44 58
- 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 22 58
- A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. (PMID: 28493397) Rainger J … FitzPatrick DR (Human mutation 2017) 3 4 58
- 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 58
Products for ACTG1 Gene
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for ACTG1
- ApexBio compounds for ACTG1
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACTG1
- VectorBuilder custom plasmid, inducible vectors for ACTG1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACTG1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ACTG1
- antibodies-online: Search results for 92 available ACTG1 Antibodies ranked by validation data
- Compare Top ACTG1 Antibodies
- antibodies-online: Search results for 22 available ACTG1 Elisa Kits ranked by validation data
- Compare Top ACTG1 Elisa Kits
- antibodies-online: Search results for 18 available ACTG1 Proteins ranked by validation data
- Compare Top ACTG1 Proteins
- GeneTex ACTG1 Antibody for ACTG1
- GeneTex Proteins for ACTG1
- Santa Cruz Biotechnology (SCBT) Antibodies for ACTG1
- Search Santa Cruz Biotechnology (SCBT) for ACTG1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ACTG1