ATP-dependent annealing helicase that catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. Defects in SMARCAL1 are a cause of Schimke immuno-osseous dysplasia (SIOD). SIOD causes spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischema. Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily. Note: This description may include information from UniProtKB.
Protein type: EC 3.6.4.-; Helicase; EC 3.6.1.-
Chromosomal Location of Human Ortholog: 2q35
Cellular Component: DNA replication factor A complex; nucleus
Molecular Function: DNA-dependent ATPase activity; protein binding; DNA binding; helicase activity; ATP binding
Biological Process: ATP catabolic process; regulation of transcription from RNA polymerase II promoter; DNA strand renaturation; chromatin modification; response to DNA damage stimulus; DNA metabolic process; replication fork processing
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.