ACTA1 (actin alpha 1, skeletal muscle)

2007-02-01  

Identity

HGNC
LOCATION
1q42.13
LOCUSID
ALIAS
ACTA,ASMA,CFTD,CFTD1,CFTDM,MPFD,NEM1,NEM2,NEM3,SHPM
FUSION GENES

Other Information

Locus ID:

NCBI: 58
MIM: 102610
HGNC: 129
Ensembl: ENSG00000143632

Variants:

dbSNP: 58
ClinVar: 58
TCGA: ENSG00000143632
COSMIC: ACTA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143632ENST00000366683A6NL76
ENSG00000143632ENST00000366684P68133

Expression (GTEx)

0
5000
10000
15000
20000
25000
30000
35000

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
381424732024A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.0
381424732024A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.0
372730002023α-SMA positive vascular mural cells suppress cyst formation in hemangioblastoma.0
373154222023Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects.2
374193852023Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.3
372730002023α-SMA positive vascular mural cells suppress cyst formation in hemangioblastoma.0
373154222023Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects.2
374193852023Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.3
354066812022Activin A Causes Muscle Atrophy through MEF2C-Dependent Impaired Myogenesis.9
358102982022Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.8
354066812022Activin A Causes Muscle Atrophy through MEF2C-Dependent Impaired Myogenesis.9
358102982022Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.8
322229632020Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.5
324141512020Metabolic Alterations in Spheroid-Cultured Hepatic Stellate Cells.5
327516932020Osteosarcoma-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/img/js/lib/css/card-gene.css