Recombinant Human Actin, cytoplasmic 2 (ACTG1)

1. A novel actin gamma 1 (ACTG1) de novo mutation is identified in two sporadic, juvenile, Chinese non-syndromic hearing loss (NSHL) cases using targeted high-throughput sequencing. PMID: 29357087
2. Results identified ACTG1 with significant high expression in skin cancer tissue and suggested that ACTG1 can regulate the cell proliferation and migration through ROCK signaling pathway. PMID: 28727228
3. a novel heterozygous missense mutation P32S in the ACTG1 gene was identified in a small family with autosomal dominant nonsyndromic hearing loss. The present findings expand our understanding of the phenotypes associated with ACTG1. Specifically, the results of the present study emphasized that mutations in ACTG1 result in a diverse spectrum of onset ages, including congenital in addition to post-lingual onset. PMID: 29620237
4. Data reports a recurrent de novo mutation in ACTG1 causes isolated ocular coloboma PMID: 28493397
5. We have identified a three-generation pedigree segregating a novel mutation in the ACTG1 gene that causes Baraitser-Winter Syndrome with extremely variable expressivity, leading to an initial diagnosis of isolated AD hearing loss in two members. PMID: 27096712
6. we expand the clinical spectrum of the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome demonstrating the mild end of the facial and brain manifestations. PMID: 27240540
7. Data indicate that F-actin is significantly elevated in septic shock, and F-actin and the F:G-actin ratio are potential biomarkers for the diagnosis of septic shock. PMID: 26754286
8. a novel mutation in ACTG1 was found to be co-segregated with hearing loss and the genetic cause of autosomal dominant nonsyndromic hearing impairment in a Chinese family PMID: 26832775
9. Three unrelated cases of rare ACTG1 variants in fetal microlissencephaly have been described. PMID: 26188271
10. In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations for ACTG1 gene associated autosomal dominant sensorineural hearing loss PMID: 25792668
11. The data, for the first time, link ASAP3 with ACTG1 in the regulation of cytoskeletal maintenance and cell motility PMID: 24284654
12. The actin/MKL1 signalling pathway influences cell growth and gene expression through large-scale chromatin reorganization and histone post-translational modifications. PMID: 24762104
13. the novel variant p.M305T in ACTG1 (DFNA20/26) was selected as a disease-causing variant. PMID: 23506231
14. These results showed the biphasic F-actin dynamics in herpes simplex virus 1 neuronal infection and confirmed the association of F-actin with the changes in the expression and activity of cofilin 1. PMID: 22623803
15. knockdown of gamma-actin significantly reduced speed of motility and severely affected the cell's ability to explore, which was, in part, due to a loss of cell polarity PMID: 21908715
16. Cytoplasmic G-actin concentration is a critical parameter for determining the extent of stimulus-induced G-actin assembly and cell extension. PMID: 21502360
17. actin participates in transcription elongation by recruiting Cdk9,a catalytic subunit of P-TEFb, for phosphorylation of the Pol II C-terminal domain, and the actin-Cdk9 interaction promotes chromatin remodeling PMID: 21378166
18. RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes. PMID: 12612070
19. the first description of a mutation in cytoskeletal, or nonmuscle, actin; with an autosomal dominant, progressive, sensorineural hearing loss phenotype PMID: 13680526
20. A missense mutation in the gamma actin 1 gene causes autosomal dominant hearing loss. PMID: 14684684
21. Our data are consistent with the idea that DP assembles into nascent junctions from both diffusible and particulate pools in a temporally overlapping series of events triggered by cell-cell contact and regulated by actin and DP-IF interactions. PMID: 16365169
22. Espins do not activate the Arp2/3 complex in vitro, and bundle assembly is not indicative of in-vitro nucleation activity.Our results suggest a novel way to build actin bundles at specific sites in cells. PMID: 16569662
23. A major factor in the deafness caused by gamma-actin mutations is an altered ability of the actin filaments to be properly regulated by actin-binding proteins rather than an inability to polymerize. PMID: 16690605
24. the present results do not indicate that mutations in ACTG1 are a frequent cause of autosomal-dominant postlingual sensorineural hearing impairment in Norway nor Denmark. PMID: 16773128
25. actin and vimentin filaments can interact directly through the tail domain of vimentin PMID: 16901892
26. During cell membrane blebbing actin recruitment is involved in cortex assembly. PMID: 17088428
27. In both AA and AL renal amyloidosis groups there were significant positive correlations between immunostaining of TGFbeta-1 and alpha-SMA. PMID: 17285762
28. IQGAP1 regulates Salmonella invasion through interactions with actin, Rac1, and Cdc42 PMID: 17693642
29. In this report we have used mutagenesis of the Talin1 I/LWEQ module to show that the amino acids responsible for dimerization are necessary for F-actin binding, stabilization and cross-linking of actin filaments, and focal adhesion targeting. PMID: 17722883
30. analysis of the structural basis of profilin-actin complexes during filament elongation by Ena/VASP PMID: 17914456
31. In this study, a novel missense mutation (c.364A>G; p.I122V) co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. PMID: 18804074
32. Both RPEL peptides of the MAL protein bind to the G-actin hydrophobic cleft and to subdomain 3. PMID: 19008859
33. Two novel ACTG1 missense mutations are associated with DFNA20/26 hearing impairment. PMID: 19477959
34. audiometric phenotype of the Dutch DFNA20/26 family with a novel mutation in ACTG1 was largely consistent with previous reports on DFNA20/26. All suffered from hearing loss.This is the first known DFNA20/26 family that has experienced tinnitus. PMID: 19548389

显示更多

收起更多

HGNC: 144

OMIM: 102560

KEGG: hsa:71

STRING: 9606.ENSP00000331514

UniGene: Hs.514581