Property Summary

NCBI Gene PubMed Count 208
Grant Count 137
R01 Count 69
Funding $23,473,639.68
PubMed Score 697.57
PubTator Score 726.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -2.500 0.000

Synonym

Accession P68133 P02568 P99020 Q5T8M9
Symbols ACTA
ASMA
CFTD
MPFD
NEM1
NEM2
NEM3
SHPM
CFTD1
CFTDM

Gene

PDB

1T44  

Gene RIF (141)

PMID Text
26493222 Upon actin engagement, the N-terminal "strap" and helix 1 are displaced from the vinculin tail helical bundle to mediate actin bundling.
26295568 The authors propose that Lpd delivers Ena/VASP proteins to growing barbed ends and increases their actin polymerase activity by tethering them to actin filaments.
26172852 This study reported the new information on the frequency and phenotypes of congenital myopathy caused by ACTA1 mutations in subjects >/=5 years of age.
25938801 New scapuloperoneal phenotype associated with an ACTA1 mutation.
25913210 Mutations in ACTA1 can cause pathologic features consistent with myofibrillar myopathy.
25895516 TIMP-1 significantly increased levels of alpha-SMA.
25747004 Myopathy associated with zebra bodies is part of the spectrum of myopathies associated with the ACTA1 gene.
25746564 Antisynthetase syndrome-associated myositis is characterized by distinctive myonuclear actin filament inclusions.
25745180 HIV-1 Nef stabilizes podosomes and enhances the size of the F-actin core in human monocyte-derived macrophages
25527710 HIV-1 Nef stabilizes podosomes and enhances the size of the F-actin core in human monocyte-derived macrophages
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AA Sequence

MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLK      1 - 70
YPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQA     71 - 140
VLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREI    141 - 210
VRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETT    211 - 280
YNSIMKCDIDIRKDLYANNVMSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS    281 - 350
LSTFQQMWITKQEYDEAGPSIVHRKCF                                               351 - 377
//

Text Mined References (217)

PMID Year Title
26493222 2016 The Structural Basis of Actin Organization by Vinculin and Metavinculin.
26295568 2015 Lamellipodin promotes actin assembly by clustering Ena/VASP proteins and tethering them to actin filaments.
26228148 2015 ACTIN-DIRECTED TOXIN. ACD toxin-produced actin oligomers poison formin-controlled actin polymerization.
26172852 2016 Prevalence and phenotypes of congenital myopathy due to ?-actin 1 gene mutations.
25938801 2015 Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
25913210 2015 Severe congenital actin related myopathy with myofibrillar myopathy features.
25895516 2015 TIMP-1 Induces ?-Smooth Muscle Actin in Fibroblasts to Promote Urethral Scar Formation.
25747004 2015 Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).
25746564 2015 Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.
25182138 2015 Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
More...