Identity
HGNC
LOCATION
1q42.13
LOCUSID
ALIAS
ACTA,ASMA,CFTD,CFTD1,CFTDM,MPFD,NEM1,NEM2,NEM3,SHPM
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 58
MIM: 102610
HGNC: 129
Ensembl: ENSG00000143632
Variants:
dbSNP: 58
ClinVar: 58
TCGA: ENSG00000143632
COSMIC: ACTA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000143632 | ENST00000366683 | A6NL76 |
| ENSG00000143632 | ENST00000366684 | P68133 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38142473 | 2024 | A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy. | 0 |
| 38142473 | 2024 | A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy. | 0 |
| 37273000 | 2023 | α-SMA positive vascular mural cells suppress cyst formation in hemangioblastoma. | 0 |
| 37315422 | 2023 | Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects. | 2 |
| 37419385 | 2023 | Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. | 3 |
| 37273000 | 2023 | α-SMA positive vascular mural cells suppress cyst formation in hemangioblastoma. | 0 |
| 37315422 | 2023 | Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects. | 2 |
| 37419385 | 2023 | Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. | 3 |
| 35406681 | 2022 | Activin A Causes Muscle Atrophy through MEF2C-Dependent Impaired Myogenesis. | 9 |
| 35810298 | 2022 | Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. | 8 |
| 35406681 | 2022 | Activin A Causes Muscle Atrophy through MEF2C-Dependent Impaired Myogenesis. | 9 |
| 35810298 | 2022 | Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. | 8 |
| 32222963 | 2020 | Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. | 5 |
| 32414151 | 2020 | Metabolic Alterations in Spheroid-Cultured Hepatic Stellate Cells. | 5 |
| 32751693 | 2020 | Osteosarcoma-Derived Extracellular Vesicles Induce Lung Fibroblast Reprogramming. | 29 |
Citation
Dessen P
ACTA1 (actin alpha 1, skeletal muscle)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43599/acta1-(actin-alpha-1-skeletal-muscle)
