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found that SMARCAL1 was transcriptionally inhibited by E2F6 (显示 E2F6 蛋白), an important cell cycle regulator. Over-expression of E2F6 (显示 E2F6 蛋白) in zebrafish embryos reduced the expression of smarcal1 mRNA and induced developmental defects similar to those in smarcal1 morphants
The main roles of SMARCAL1 in DNA repair, telomere maintenance and replication fork stability in response to DNA replication stress are reviewed.
our data reveal the critical function of the DNA replication stress response and, specifically, Smarcal1 in hematopoietic cell survival and tumor development. Our results also provide important insight into the immunodeficiency observed in individuals with mutations in SMARCAL1 by suggesting that it is an HSPC defect.
results provide the first identification, to our knowledge, of an endogenous source of replication stress that requires SMARCAL1 for resolution and define differences between members of this class of replication fork-repair enzymes.
the role of SMARCAL1 in the pathogenesis of Schimke immuno-osseous dysplasia
Mutation of predicted DNA-binding residues in the HARP (显示 C5orf13 蛋白) domain dramatically reduced fork binding and regression activities of SMARCAL1 catalytic domain.
did not find evidence of defective NER (显示 NR1H2 蛋白) or NHEJ; however, Smarcal1-deficient mice were hypersensitive to several genotoxic agents
SMARCAL1 annealing helicase buffers fluctuations in gene expression and that alterations in gene expression contribute to the penetrance of SIOD.
A large number of SNF2 (显示 SMARCA2 蛋白) family, DNA and ATP-dependent motor proteins are needed during transcription, DNA replication, and DNA repair to manipulate protein-DNA interactions and change DNA structure. SMARCAL1, ZRANB3, and HLTF (显示 HLTF 蛋白) are three related members of this family with specialized functions that maintain genome stability during DNA replication. [review]
BRG1 (显示 SMARCA4 蛋白) and SMARCAL1, members of the ATP-dependent chromatin remodelling family, are shown to co-regulate the transcription of DROSHA (显示 DROSHA 蛋白), DGCR8 (显示 DGCR8 蛋白), and DICER (显示 DICER1 蛋白) in response to double-strand DNA breaks.
depletion of SMARCAL1, a SNF2 (显示 SMARCA2 蛋白)-family DNA translocase that remodels stalled forks, restores replication fork stability and reduces the formation of replication stress-induced DNA breaks and chromosomal aberrations in BRCA1/2-deficient cells. In addition to SMARCAL1, other SNF2 (显示 SMARCA2 蛋白)-family fork remodelers, including ZRANB3 and HLTF (显示 HLTF 蛋白), cause nascent DNA degradation and genomic instability
the mechanism of SMARCAL1 function in maintaining genome stability
deficiency of a SMARCAL1 ortholog altering the chromatin structure of a gene
Results provide evidence that BRG1 (显示 SMARCA4 蛋白) and SMARCAL1 regulate each other. BRG1 (显示 SMARCA4 蛋白) binds to the SMARCAL1 promoter, while SMARCAL1 binds to the brg1 (显示 SMARCA4 蛋白) promoter. During DNA damage, the occupancy of SMARCAL1 on the brg1 (显示 SMARCA4 蛋白) promoter increases coinciding with an increase in BRG1 (显示 SMARCA4 蛋白) occupancy on the SMARCAL1 promoter, leading to increased brg1 (显示 SMARCA4 蛋白) and SMARCAL1 transcripts respectively.
the replication stress response protein SMARCAL1 is a critical regulator of alternative lengthening of telomeres activity.
SMARCAL1 negatively regulates c-myc (显示 MYC 蛋白) transcription by altering the conformation of its promoter region during differentiation.
Brca2 (显示 BRCA2 蛋白) and Rad51 prevent formation of abnormal DNA replication intermediates, whose processing by Smarcal1 and Mre11 (显示 MRE11A 蛋白) predisposes to genome instability.
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a-like 1
, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
, hepA-related protein
, sucrose nonfermenting protein 2-like 1
, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1-like
, ATP-driven annealing helicase
, HepA-related protein
, SMARCA-like protein 1
, Sucrose nonfermenting protein 2-like 1