ACTA1 (actin alpha 1, skeletal muscle)

2007-02-01 Affiliation

Identity

HGNC

ACTA1

LOCATION

1q42.13

LOCUSID

ALIAS

ACTA,ASMA,CFTD,CFTD1,CFTDM,MPFD,NEM1,NEM2,NEM3,SHPM

FUSION GENES

Show Gene Fusions

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)

5000

10000

15000

20000

25000

30000

35000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/js/lib/gene-explorer/humanGenome