Recombinant Human Helicase SRCAP (SRCAP), partial

1. Data show that PCI domain-containing protein 2 (Pcid2) controls lymphoid lineage commitment through the regulation of Snf2-related CREBBP activator protein (SRCAP) remodelling activity. PMID: 29138493
2. Alterative hypotheses to explain how the Srcap truncating mutations lead to the onset of Floating-Harbor syndrome are presented. PMID: 27208210
3. Data confirm a mutational hot spot in the final exon of SRCAP in the majority of Floating-Harbor syndrome patients but also show that exon 33 of this gene can be affected. PMID: 25433523
4. This study implicates the human SRCAP chromatin remodeling complex as a novel regulator of DNA damage responses that orchestrates proper signaling and repair of DSBs in the context of chromatin. PMID: 25176633
5. Functional studies and reports of patients with additional SRCAP mutations will eventually lead to a better understanding of biological mechanisms underlying this disorder. PMID: 23763483
6. These results indicate that perturbed skeletal maturation from infancy through adolescence is a characteristic feature in patients with SRCAP mutations. PMID: 24375913
7. Sequencing of the SRCAP gene demonstrated a de novo mutation matching one of the known FHS-associated mutations. PMID: 23165645
8. Data indicate that the absence of SRCAP mutations in 3/9 cases suggesting genetic heterogeneity of floating-harbor syndrome (FH syndrome). PMID: 22965468
9. Our genome-wide expression results demonstrate that SRCAP-mediated H2A.Z deposition at promoter regions is necessary for complete gene reactivation induced by DNA demethylation. PMID: 22479200
10. Sanger sequencing identified mutations in SRCAP in eight more affected persons. PMID: 22265015
11. HCV NS3 protein is involved in the activation of the Notch-signaling pathway through the targeting to both SRCAP and p400 PMID: 21673954
12. These data identify SRCAP as a physiologically relevant mediator of PSA expression, and demonstrate that SRCAP plays a role in prostate cancer cell proliferation. PMID: 20432434
13. SRCAP functions as a coactivator to regulate transcription initiated by several signaling pathways. PMID: 14500758
14. SRCAP is implicated in developmental gene activation PMID: 16024792
15. SRCAP-containing complex supports ATP-dependent exchange of histone dimers containing H2B and H2A.Z into mononucleosomes reconstituted with recombinant H2A, H2B, H3, and H4. PMID: 16634648
16. Methods for purification and assay of the SRCAP chromatin remodeling complexes are described. PMID: 17101442
17. SRCAP is recruited to promoters and is critical for the deposition of H2A.Z. PMID: 17617668

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HGNC: 16974

OMIM: 136140

KEGG: hsa:10847

STRING: 9606.ENSP00000262518

UniGene: Hs.620916