| http://purl.uniprot.org/citations/19793861 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19793861 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19793861 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in SMARCAL1 (HARP) cause Schimke immunoosseous dysplasia (SIOD). The mechanistic basis for this disease is unknown. Using functional genomic screens, we identified SMARCAL1 as a genome maintenance protein. Silencing and overexpression of SMARCAL1 leads to activation of the DNA damage response during S phase in the absence of any genotoxic agent. SMARCAL1 contains a Replication protein A (RPA)-binding motif similar to that found in the replication stress response protein TIPIN (Timeless-Interacting Protein), which is both necessary and sufficient to target SMARCAL1 to stalled replication forks. RPA binding is critical for the cellular function of SMARCAL1; however, it is not necessary for the annealing helicase activity of SMARCAL1 in vitro. An SIOD-associated SMARCAL1 mutant fails to prevent replication-associated DNA damage from accumulating in cells in which endogenous SMARCAL1 is silenced. Ataxia-telangiectasia mutated (ATM), ATM and Rad3-related (ATR), and DNA-dependent protein kinase (DNA-PK) phosphorylate SMARCAL1 in response to replication stress. Loss of SMARCAL1 activity causes increased RPA loading onto chromatin and persistent RPA phosphorylation after a transient exposure to replication stress. Furthermore, SMARCAL1-deficient cells are hypersensitive to replication stress agents. Thus, SMARCAL1 is a replication stress response protein, and the pleiotropic phenotypes of SIOD are at least partly due to defects in genome maintenance during DNA replication."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.org/dc/terms/identifier | "doi:10.1101/gad.1839909"xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.org/dc/terms/identifier | "doi:10.1101/gad.1839909"xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/author | "Cortez D."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/author | "Cortez D."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/author | "Bansbach C.E."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/author | "Bansbach C.E."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/author | "Glick G.G."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/author | "Glick G.G."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/author | "Lovejoy C.A."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/author | "Lovejoy C.A."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/author | "Betous R."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/author | "Betous R."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/name | "Genes Dev."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/name | "Genes Dev."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/pages | "2405-2414"xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/pages | "2405-2414"xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/title | "The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/title | "The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks."xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/volume | "23"xsd:string |
| http://purl.uniprot.org/citations/19793861 | http://purl.uniprot.org/core/volume | "23"xsd:string |