ACTA1 - actin alpha 1, skeletal muscle Gene
Also Known as ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; SHPM; CFTD1; CFTDM
Species: Homo sapiens
About ACTA1
This gene has 3 transcripts (splice variants), 352 orthologues, 26 paralogues and is associated with 13 phenotypes. Biased expression in heart (RPKM 1670.9), esophagus (RPKM 297.6) and 1 other tissue.
Summary
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
ACTA1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001100.4 | NP_001091.1 | actin, alpha skeletal muscle |
| NM_001100.4 | NP_001091.1 | actin, alpha skeletal muscle |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12849983 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in skeletal muscle thin filament assembly |
IMP
IMP: Inferred from mutant phenotype
|
11333380 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in actin cytoskeleton |
IMP
IMP: Inferred from mutant phenotype
|
15198992 | GOA |
| located in actin filament |
IDA
IDA: Inferred from direct assay
|
12849983 | GOA |
| located in sarcomere |
IDA
IDA: Inferred from direct assay
|
1423520 | GOA |
| located in stress fiber |
IDA
IDA: Inferred from direct assay
|
15198992 | GOA |
| located in striated muscle thin filament |
IDA
IDA: Inferred from direct assay
|
15198992 | GOA |
ACTA1 Protein Structure
Actin: Actin (5 - 377)
- 0
- 100
- 200
- 300
- 377 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
actin, alpha skeletal muscle |
|
ACTA1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ACTA1 | P68133 | CAMK2A | Homo sapiens | Q9UQM7 | 32814053 | |
|
Intra
|
ACTA1 | P68133 | CAMK2A | Homo sapiens | Q9UQM7 | 32814053 | |
|
Intra
|
ACTA1 | P68133 | CAMK2A | Homo sapiens | Q9UQM7 | 32814053 |
ACTA1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81258 | alpha Skeletal Muscle Actin Antibody (YA930) | WB, IHC-F, IHC-P, ICC/IF, IP | Human, Mouse, Rat |
| HY-P81258A | alpha Skeletal Muscle Actin Antibody (YA931) | IHC-P | Human |
| HY-P81258AA | alpha Skeletal Muscle Actin Antibody (YA931)(PBS only) | IHC-P | Human |
| HY-P85681 | alpha Skeletal Muscle Actin Antibody (YA5373) | WB, IHC-P, ICC/IF, IP | Human, Mouse, Rat |
| HY-P85828 | Actin Muscle Specific Antibody (YA5520) | IHC-P, WB, ICC/IF, ELISA | Human, Mouse, Rat, Monkey, Bovin, Pig, Chick |
| HY-P85948 | Actin pan Antibody (YA5640) | IHC-P, WB, ICC/IF, ELISA | Human, Mouse, Rat, Bovin, Pig, Chick |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myopathy, Scapulohumeroperoneal |
|
|
| Nemaline Myopathy 3 |
|
|
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
|
| Congenital Fiber-Type Disproportion |
|
|
| Zebra Body Myopathy |
|
|
| Childhood-Onset Nemaline Myopathy |
|
|
| Typical Congenital Nemaline Myopathy |
|
|
| Intermediate Congenital Nemaline Myopathy |
|
|
| Severe Congenital Nemaline Myopathy |
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
|
| Neuromuscular Disease |
|
|
| Hydrops Fetalis, Nonimmune |
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
|
| Distal Arthrogryposis |
|
|
| Nemaline Myopathy |
|
|
| Congenital Myopathy With Cores |
|
|
| Rigid Spine Muscular Dystrophy |
|
|
| Myopathy |
|
|
| Listeriosis |
|
|
| Foot Drop |
|
|
| Batten-Turner Congenital Myopathy |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
|
| Congenital Structural Myopathy |
|
|
| Intestinal Pseudo-Obstruction |
|
|
| Prostate Angiosarcoma |
|
|
| Myopathy, Centronuclear, 1 |
|
|
| Lipoma Of Spermatic Cord |
|
|
| Paratesticular Lipoma |
|
|
| Colon Leiomyosarcoma |
|
|
| Hypotonia |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Hyaline Body Myopathy |
|
|
| Prostate Leiomyoma |
|
|
| Multiminicore Disease |
|
|
| Breast Myoepithelial Carcinoma |
|
|
| Central Core Disease Of Muscle |
|
|
| Amelogenesis Imperfecta, Type Ie |
|
|
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
|
| Cardiomyopathy, Dilated, 2a |
|
|
| Nemaline Myopathy 2 |
|
|
| Cardiomyopathy, Dilated, 1ff |
|
|
| Respiratory Failure |
|
|
| Scapuloperoneal Myopathy |
|
|
| Benign Fibrous Mesothelioma |
|
|
| Hydrops Of Gallbladder |
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
|
| Muscular Dystrophy |
|
|
| Facioscapulohumeral Muscular Dystrophy 1 |
|
|
| Myopathy, Distal, 1 |
|
|
| Centronuclear Myopathy |
|
|
| Gastric Liposarcoma |
|
|
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
|
| Myofibrillar Myopathy |
|
|
| Noonan Syndrome 1 |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Primary Biliary Cholangitis |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Dilated Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | ACTA1 | VGNC | VGNC:25573 |
| Canis familiaris | ACTA1 | VGNC | VGNC:37538 |
| Rattus norvegicus | ACTA1 | RGD | RGD:2025 |
| Mus musculus | ACTA1 | MGD | MGI:87902 |
| Macaca mulatta | ACTA1 | VGNC | VGNC:69387 |
| Felis catus | ACTA1 | VGNC | VGNC:59541 |
| Others | ACTA1 | NCBI |