Aliases for ACTA1 Gene
Aliases for ACTA1 Gene
External Ids for ACTA1 Gene
- HGNC: 129
- Entrez Gene: 58
- Ensembl: ENSG00000143632
- OMIM: 102610
- UniProtKB: P68133
Previous HGNC Symbols for ACTA1 Gene
- ACTA
Previous GeneCards Identifiers for ACTA1 Gene
- GC01M228014
- GC01M225261
- GC01M225966
- GC01M226528
- GC01M225873
- GC01M227633
- GC01M229567
- GC01M200057
Summaries for ACTA1 Gene
-
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 nemaline myopathy type 3, 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACTA1 Gene
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 ERK Signaling 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.
UniProtKB/Swiss-Prot for ACTA1 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 ACTA1 Gene
- Monarch Initiative
- Search for ACTA1 at DataMed
- Search for ACTA1 at HumanCyc
No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTA1 Gene
Genomics for ACTA1 Gene
GeneHancer (GH) Regulatory Elements for ACTA1 Gene
Promoters and enhancers for ACTA1 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 ACTA1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ACTA1 gene promoter:
-
- AP-1
- MEF-2A
- aMEF-2
- c-Jun
Regulatory Element Products
Genomic Locations for ACTA1 Gene
Genomic Locations for ACTA1 Gene
- chr1:229,431,245-229,434,098
- (GRCh38/hg38)
- Size:
- 2,854 bases
- Orientation:
- Minus strand
- chr1:229,566,992-229,569,845
- (GRCh37/hg19)
- Size:
- 2,854 bases
- Orientation:
- Minus strand
Genomic View for ACTA1 Gene
Genes around ACTA1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q42.13 by Entrez Gene
- 1q42.13 by HGNC
- 1q42.13 by Ensembl
ACTA1 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 ACTA1 Gene
Proteins for ACTA1 Gene
-
Protein details for ACTA1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P68133-ACTS_HUMAN
- Recommended name:
- Actin, alpha skeletal muscle
- Protein Accession:
- P68133
- P02568
- P99020
- Q5T8M9
Protein attributes for ACTA1 Gene
- Size:
- 377 amino acids
- Molecular mass:
- 42051 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. Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X (By similarity). Interacts with TTID. Interacts (via its C-terminus) with USP25; the interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells.
- 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 ACTA1 Gene
Post-translational modifications for ACTA1 Gene
- Oxidation of Met-46 and Met-49 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 promotes actin repolymerization.
- Monomethylation at Lys-86 (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-52 of one monomer and Glu-272 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).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ACTA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ACTA1
-
Abcam antibodies for ACTA1
- Invitrogen Antibodies for ACTA1 (AFLGC-ACTA1)
- GeneTex ACTA1 Antibody for ACTA1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACTA1
- Sino Biological Antibodies for ACTA1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ACTA1
- Origene Custom Protein Services for ACTA1
- Novus Biologicals proteins for ACTA1
- Search GeneTex for Proteins for ACTA1
-
Abcam proteins for ACTA1
Assay Products
- Novus Biologicals ELISA Kits for ACTA1
- antibodies-online: Search results for 39 available Actin Elisa Kits ranked by validation data
- Compare Top Actin Elisa Kits
-
Recommended
- 3 Chicken ELISA Kits
- 5 Cow (Bovine) ELISA Kits
- 1 Dog (Canine) ELISA Kit
- 1 General ELISA Kit
- 1 Goat ELISA Kit
- 1 Guinea Pig ELISA Kit
- 13 Human ELISA Kits
- 2 Monkey ELISA Kits
- 7 Mouse (Murine) ELISA Kits
- 5 Pig (Porcine) ELISA Kits
- 4 Rabbit ELISA Kits
- 11 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- 1 Wild boar (Sus scrofa) ELISA Kit
No data available for DME Specific Peptides for ACTA1 Gene
Domains & Families for ACTA1 Gene
Gene Families for ACTA1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for ACTA1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACTA1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P68133- Family:
-
- Belongs to the actin family.
Function for ACTA1 Gene
Molecular function for ACTA1 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,alpha 1,skeletal and smooth muscle major constituent of thin filaments
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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:0043531 | ADP binding | TAS | 10508519 |
Phenotypes for ACTA1 Gene
- MGI mutant phenotypes for ACTA1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ACTA1:
Animal Models for ACTA1 Gene
- MGI Knock Outs for ACTA1:
-
- Acta1 Acta1<tm1Jll>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACTA1
-
CRISPR Products
-
OriGene CRISPR knockouts for ACTA1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACTA1
- genomics-online: gRNA clones - Search results for 137 available Actin gene related products
- Overview of 137 available Actin gene related products
- Applied Biological Materials CRISPR for ACTA1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACTA1
- GenScript: Design CRISPR guide RNA sequences for ACTA1
miRNA for ACTA1 Gene
- miRTarBase miRNAs that target ACTA1
-
- hsa-mir-1-3p (MIRT023513)
- hsa-mir-877-5p (MIRT037359)
- hsa-mir-297 (MIRT550888)
- hsa-mir-569 (MIRT550889)
- hsa-mir-567 (MIRT550890)
- hsa-mir-202-3p (MIRT550891)
- hsa-mir-98-5p (MIRT550892)
- hsa-mir-4500 (MIRT550893)
- hsa-mir-4458 (MIRT550894)
- hsa-let-7i-5p (MIRT550895)
- hsa-let-7g-5p (MIRT550896)
- hsa-let-7f-5p (MIRT550897)
- hsa-let-7e-5p (MIRT550898)
- hsa-let-7d-5p (MIRT550899)
- hsa-let-7c-5p (MIRT550900)
- hsa-let-7b-5p (MIRT550901)
- hsa-let-7a-5p (MIRT550902)
- hsa-mir-4698 (MIRT550903)
- hsa-mir-7-2-3p (MIRT550904)
- hsa-mir-7-1-3p (MIRT550905)
- hsa-mir-5688 (MIRT550906)
- hsa-mir-495-3p (MIRT550907)
- hsa-mir-1252-3p (MIRT550908)
- hsa-mir-3662 (MIRT550909)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACTA1
- Browse OriGene Inhibitory RNA Products For ACTA1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTA1
- genomics-online: shRNA clones - Search results for 137 available Actin gene related products
- Overview of 137 available Actin gene related products
Clone Products
- Sino Biological Human cDNA Clone for ACTA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACTA1
- Applied Biological Materials Clones for ACTA1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ACTA1
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ACTA1 Gene
Localization for ACTA1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ACTA1 Gene
- Cytoplasm, cytoskeleton.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001725 | stress fiber | IDA | 15198992 |
| GO:0005615 | extracellular space | HDA | 23580065 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTA1 Gene
Pathways & Interactions for ACTA1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Actin Nucleation by ARP-WASP Complex |
.41
.35
|
|
| 2 | PAK Pathway |
.56
|
|
| 3 | VEGF Pathway (Qiagen) |
.66
|
|
| 4 | fMLP Pathway |
.43
|
|
| 5 | Sertoli-Sertoli Cell Junction Dynamics | ||
Pathways by source for ACTA1 Gene
7 BioSystems pathways for ACTA1 Gene
8 GeneGo (Thomson Reuters) pathways for ACTA1 Gene
43 Qiagen pathways for ACTA1 Gene
1 Cell Signaling Technology pathway for ACTA1 Gene
Interacting Proteins for ACTA1 Gene
GPS-Prot Interaction Network for ACTA1
| 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 | -- |
No data available for SIGNOR curated interactions for ACTA1 Gene
Drugs & Compounds for ACTA1 Gene
| 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 | |
| 4-Methyl-Histidine | 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 |
|---|
(5) Tocris Compounds for ACTA1 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 |
Drug Products
Transcripts for ACTA1 Gene
mRNA/cDNA for ACTA1 Gene
- (1) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (807) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000366684 1491 bps (uc001htm.4)
- ENST00000366683 1122 bps (uc057qfz.1)
Unigene Clusters for ACTA1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ACTA1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACTA1
- genomics-online: gRNA clones - Search results for 137 available Actin gene related products
- Overview of 137 available Actin gene related products
- Applied Biological Materials CRISPR for ACTA1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACTA1
- GenScript: Design CRISPR guide RNA sequences for ACTA1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACTA1
- Browse OriGene Inhibitory RNA Products For ACTA1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTA1
- genomics-online: shRNA clones - Search results for 137 available Actin gene related products
- Overview of 137 available Actin gene related products
Clone Products
- Sino Biological Human cDNA Clone for ACTA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACTA1
- Applied Biological Materials Clones for ACTA1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ACTA1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Multinuclear Myocytes Anterior Neck Muscles
- Mononuclear Myocytes Hindlimb Ventral Muscle
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Mononuclear Myocytes Sacral Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Hypaxial Myotome
-
Somite (Muscoskeletal System)
- Mononuclear Myocytes Sacral Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Epaxial Myotome
- Mononuclear Myocytes Cervical Primary Epaxial Myotome
- Mononuclear Myocytes Cervical Epaxial Myotome
-
Limb (Muscoskeletal System)
- Mononuclear Myocytes Hindlimb Ventral Muscle
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Mononuclear Myocytes Forelimb Dorsal Muscles
- Multinuclear Myocytes Hindlimb Ventral Muscle
- Mononuclear Myocytes Hindlimb Dorsal Muscle
-
Heart (Cardiovascular System)
- Primitive Heart Tube Cells Primitive Heart Tube
- Atrioventricular Canal Cells Atrioventricular Canal
- Cardiac Crescent Cells Cardiac Crescent
- Heart Tube
- Cardiomyocyte-like cells(Kehat I et. al. 2001)
- Inner Cell Mass (Early Embryonic Tissues)
- NULL (Uncategorized)
- Smooth Muscle (Muscoskeletal System)
- Lower Urinary Tract (Urinary System)
- Adipose (Muscoskeletal System)
- Liver (Hepatobiliary System)
- Epiblast (Early Embryonic Tissues)
-
Prostate (Endocrine System)
-
Thyroid (Endocrine System)
-
Dermis (Integumentary System)
-
Testis (Reproductive System)
-
Esophagus (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for ACTA1 Gene
This gene is overexpressed in Muscle - Skeletal (x42.6) and Heart - Left Ventricle (x8.1).
This gene is overexpressed in Saliva (14.1), Skin (11.2), Brain (10.4), Heart (8.8), Lung (8.1), and Tonsil (7.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACTA1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ACTA1 Gene:
ACTA1SOURCE GeneReport for Unigene cluster for ACTA1 Gene:
Hs.1288Evidence on tissue expression from TISSUES for ACTA1 Gene
- Muscle(5)
- Heart(4.4)
- Thyroid gland(3.1)
- Liver(2.2)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTA1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- tongue
- vocal cord
Thorax:
- chest wall
- clavicle
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- kidney
- stomach
Pelvis:
- pelvis
- placenta
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for ACTA1
-
OriGene qPCR primer pairs and template standards for ACTA1
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ACTA1 Gene
Orthologs for ACTA1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| oppossum (Monodelphis domestica) |
Mammalia | ACTA1 34 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | ACTA1 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | ACTA1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ACTA1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Acta1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Acta1 33 |
|
||
| chicken (Gallus gallus) |
Aves | ACTA1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ACTA1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | act3 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | actc1a 34 |
|
ManyToMany | |
| acta1a 34 |
|
ManyToMany | |||
| zgc:86709 34 |
|
ManyToMany | |||
| hm:zewp0073 34 |
|
ManyToMany | |||
| actc1b 34 |
|
ManyToMany | |||
| acta1b 34 33 |
|
ManyToMany | |||
| -- 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Act5C 35 |
|
|
|
| Act42A 35 |
|
|
|||
| Act87E 35 |
|
|
|||
| Act79B 35 |
|
|
|||
| Act57B 35 |
|
|
|||
| Act88F 35 |
|
|
|||
| Arp53D 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | act-2 35 |
|
|
|
| act-1 35 |
|
|
|||
| act-3 35 |
|
|
|||
| act-5 35 |
|
|
|||
| F42C5.9 35 |
|
|
|||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT2G42100 33 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.4344 33 |
|
- Species where no ortholog for ACTA1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Evolution for ACTA1 Gene
- ENSEMBL:
- Gene Tree for ACTA1 (if available)
- TreeFam:
- Gene Tree for ACTA1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ACTA1: view image
Paralogs for ACTA1 Gene
Paralogs for ACTA1 Gene
(32) SIMAP similar genes for ACTA1 Gene using alignment to 5 proteins:
- ACTS_HUMAN
- A6NL76_HUMAN
- Q5T8M7_HUMAN
- Q5T8M8_HUMAN
- Q7Z7J6_HUMAN
Pseudogenes.org Pseudogenes for ACTA1 Gene
Variants for ACTA1 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519311 | likely-pathogenic, uncertain-significance, Nemaline myopathy 3, not specified | 229,432,365(-) | G/A/C | coding_sequence_variant, missense_variant | |
| rs1057521118 | likely-pathogenic, uncertain-significance, not provided, Nemaline myopathy 3 | 229,432,126(-) | C/G | coding_sequence_variant, missense_variant | |
| rs1064794287 | pathogenic, Nemaline myopathy 3, not provided | 229,432,333(-) | G/A/T | coding_sequence_variant, missense_variant | |
| rs111812550 | pathogenic, Nemaline myopathy 3 | 229,432,269(-) | C/G/T | splice_donor_variant | |
| rs11803533 | benign, likely-benign, not specified, Congenital fiber-type disproportion, Nemaline myopathy, Familial restrictive cardiomyopathy | 229,432,885(-) | A/G | intron_variant |
Residual Variation Intolerance Score:
18.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.25;
5.62% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ACTA1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTA1 Gene
Disorders for ACTA1 Gene
(26) MalaCards diseases for ACTA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, scapulohumeroperoneal |
|
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| nemaline myopathy 3 |
|
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| myopathy, congenital, with fiber-type disproportion |
|
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| congenital fiber-type disproportion |
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| zebra body myopathy |
|
|
Search ACTA1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ACTS_HUMAN- Nemaline myopathy 3 (NEM3) [MIM:161800]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. {ECO:0000269 PubMed:10508519, ECO:0000269 PubMed:11166164, ECO:0000269 PubMed:11333380, ECO:0000269 PubMed:15198992, ECO:0000269 PubMed:15236405, ECO:0000269 PubMed:15336687, ECO:0000269 PubMed:15520409, ECO:0000269 PubMed:16427282, ECO:0000269 PubMed:16945537, ECO:0000269 PubMed:17705262, ECO:0000269 PubMed:22442437, ECO:0000269 PubMed:23650303, ECO:0000269 PubMed:25938801}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]: A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent. {ECO:0000269 PubMed:10508519}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269 PubMed:15468086, ECO:0000269 PubMed:17387733}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Myopathy, scapulohumeroperoneal (SHPM) [MIM:616852]: An autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable. {ECO:0000269 PubMed:25938801}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ACTA1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ACTA1 Gene
Publications for ACTA1 Gene
- The pathogenesis of ACTA1-related congenital fiber type disproportion. (PMID: 17387733) Clarke NF … North K (Annals of neurology 2007) 3 4 22 58
- The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. (PMID: 16501887) Bosch-Comas A … Marfany G (Cellular and molecular life sciences : CMLS 2006) 3 4 22 58
- Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. (PMID: 16427282) Hutchinson DO … North KN (Neuromuscular disorders : NMD 2006) 3 4 22 58
- Actin mutations are one cause of congenital fibre type disproportion. (PMID: 15468086) Laing NG … Nonaka I (Annals of neurology 2004) 3 4 22 58
- Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). (PMID: 15336687) Ohlsson M … Oldfors A (Neuromuscular disorders : NMD 2004) 3 4 22 58
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