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
219315362011Natural killer cell lytic granule secretion occurs through a pervasive actin network at the immune synapse.99
195626892009Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).56
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
206866922010Altered actin centripetal retrograde flow in physically restricted immunological synapses.42
210798002010Cortactin phosphorylated by ERK1/2 localizes to sites of dynamic actin regulation and is required for carcinoma lamellipodia persistence.40
193898442009Plasma gelsolin and circulating actin correlate with hemodialysis mortality.30
234208432013A periodic pattern of evolutionarily conserved basic and acidic residues constitutes the binding interface of actin-tropomyosin.29
199342212009The Rho-family GEF Asef2 activates Rac to modulate adhesion and actin dynamics and thereby regulate cell migration.28
152364052004Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.27
189769092009Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.25

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