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Description

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 (UniProt Q9NZC9, also known as ATP-driven annealing helicase, HepA-related protein, hHARP, SMARCA-like protein 1, Sucrose nonfermenting protein 2-like 1) is encoded by the SMARCAL1 (also known as HARP, HHARP) gene (Gene ID 50485) in human. The annealing helicase SMARCAL1 is a replication stress response protein that maintains genome integrity at stalled replication forks during DNA replication. SMARCAL1 binds Replication protein A (RPA) via its RPA-binding motif, which is both necessary and sufficient to target SMARCAL1 to stalled replication forks. Although not necessary for SMARCAL1 enzymatic activity, RPA binding is critical for its cellular function. Ataxia-telangiectasia mutated (ATM), ATM and Rad3-related (ATR), and DNA-dependent protein kinase (DNA-PK) phosphorylate SMARCAL1 in response to replication stress. SMARCAL1-deficient cells are hypersensitive to replication stress agents and SMARCAL1 gene mutations cause Schimke immunoosseous dysplasia (SIOD).