SMARCAL1 Antibody

1. A large number of SNF2 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 are three related members of this family with specialized functions that maintain genome stability during DNA replication. [review] PMID: 28954549
2. The main roles of SMARCAL1 in DNA repair, telomere maintenance and replication fork stability in response to DNA replication stress are reviewed. PMID: 28623093
3. depletion of SMARCAL1, a SNF2-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-family fork remodelers, including ZRANB3 and HLTF, cause nascent DNA degradation and genomic instability PMID: 29053959
4. 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. PMID: 27797382
5. the mechanism of SMARCAL1 function in maintaining genome stability PMID: 27355316
6. deficiency of a SMARCAL1 ortholog altering the chromatin structure of a gene PMID: 27813696
7. Results provide evidence that BRG1 and SMARCAL1 regulate each other. BRG1 binds to the SMARCAL1 promoter, while SMARCAL1 binds to the brg1 promoter. During DNA damage, the occupancy of SMARCAL1 on the brg1 promoter increases coinciding with an increase in BRG1 occupancy on the SMARCAL1 promoter, leading to increased brg1 and SMARCAL1 transcripts respectively. PMID: 26843359
8. the replication stress response protein SMARCAL1 is a critical regulator of alternative lengthening of telomeres activity. PMID: 26832416
9. SMARCAL1 negatively regulates c-myc transcription by altering the conformation of its promoter region during differentiation. PMID: 26648259
10. Mutations in human SMARCAL1 that result in loss in ATPase activity lead to increased replication stress and therefore possibly manifestation of Schimke immuno-osseous dysplasia. PMID: 26195148
11. 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. PMID: 26578802
12. The results suggest that Smarcal1 enhances nonhomologous end-joining repair, presumably by interacting with RPA at unwound single-strand sequences and then facilitating annealing at double-strand-break ends. PMID: 26089390
13. the role of SMARCAL1 in the pathogenesis of Schimke immuno-osseous dysplasia PMID: 25319549
14. In addition to its annealing helicase activity, which eliminates the natural binding substrate for RPA, HARP blocks the phosphorylation of RPA by DNA-PK. PMID: 24565939
15. We present here the first evidence of intrinsic chromosomal instability in a severe SMARCAL1-deficient patient with a clinical picture of SIOD. PMID: 24197801
16. Conserved motifs are required for RPA32 binding the the N-terminus of SMARCAL1. PMID: 24910198
17. report provided the clinical and genetic description of a mild phenotype of Schimke immuno-osseous dysplasia associated with nephrotic proteinuria, decreasing after combined therapy with ACE inhibitors and sartans. PMID: 24589093
18. study reports the characterization of the RPA32C-SMARCAL1 interface at the molecular level; implications of results are discussed with respect to the recruitment of SMARCAL1 and other DNA damage response and repair proteins to stalled replication forks PMID: 24730652
19. Data suggest that replication protein A (RPA) brings a complex of SMARCAL1 and WRN to stalled forks, but that they may act in different pathways to promote fork repair and restart. PMID: 23671665
20. Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child. PMID: 23630135
21. ATR phosphorylates SMARCAL1 on S652, thereby limiting its fork regression activities and preventing aberrant fork processing PMID: 23873943
22. Review of advances in understanding of the biochemical and cellular functions of SMARCAL1 made over the recent years and discussion of the rationale for development of SMARCAL1 inhibitors as novel anticancer therapies. [Review] PMID: 22995303
23. SMARCAL1 annealing helicase buffers fluctuations in gene expression and that alterations in gene expression contribute to the penetrance of SIOD. PMID: 22378147
24. SMARCAL1 continuously surveys replication forks for damage PMID: 22279047
25. loss of SMARCAL1 function in patients may cause DNA replication-associated genome instability that contributes to the pleiotropic phenotypes of Schimke immuno-osseous dysplasia PMID: 21327070
26. HARP domain endows HARP with this ATP-driven annealing helicase activity. PMID: 21525954
27. Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient. PMID: 20179009
28. Schimke immuno-osseous dysplasia: a patient who has survived to 20 years despite having a homozygous SMARCAL1 nonsense mutation and severe early onset disease PMID: 12471207
29. Missense mutation in the SMARCAL1 gene is associated with mild Schimke immuno-osseous dysplasia. PMID: 16237566
30. Mutated in Schimke immuno-osseous dysplasia, a fatal autosomal recessive disorder. PMID: 16840568
31. Schimke immuno-osseous dysplasia (SIOD) severity within the same family might be modified by the splicing machinery. The renal expression pattern of SMARCAL1 explains a broader spectrum of renal disease in SIOD than previously described. PMID: 18356746
32. SMARCAL1 deficiency may influence brain development and function in addition to its previously recognized effect on cerebral circulation. PMID: 18520775
33. SMARCAL1 binds chromatin in vivo and that Schimke immuno-osseous dysplasia arises from impairment of diverse SMARCAL1 functions PMID: 18805831
34. study found that HARP is an ATP-dependent annealing helicase that rewinds single-stranded DNA bubbles that are stably bound by replication protein A PMID: 18974355
35. SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. (Case Report). PMID: 19127206
36. Donor serum SMARCAL1 may serve as a specific, sensitive, and noninvasive predictive marker in the assessment of cardiac graft quality. PMID: 19752368
37. SMARCAL1 directly interacts with Replication protein A (RPA) and is recruited to sites of DNA damage in an RPA-dependent manner PMID: 19793862
38. the interaction of HARP with RPA increases the concentration of annealing helicase activity in the vicinity of ssDNA regions to facilitate processes such as DNA repair PMID: 19793863
39. ARP is recruited to stalled replication forks via its direct interaction with Replication protein A (RPA) PMID: 19793864
40. SMARCAL1 is a novel DNA damage-binding protein involved in replication fork stabilization. PMID: 19841479

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HGNC: 11102

OMIM: 242900

KEGG: hsa:50485

STRING: 9606.ENSP00000349823

UniGene: Hs.516674