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SMARCAL1 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 3.6.1.-; EC 3.6.4.-; Helicase
Chromosomal Location of Human Ortholog: 2q35
Cellular Component: DNA replication factor A complex; nucleoplasm; nucleus
Molecular Function: ATP binding; DNA-dependent ATPase activity; helicase activity; protein binding
Biological Process: cellular response to DNA damage stimulus; DNA metabolic process; DNA repair; DNA strand renaturation; regulation of transcription from RNA polymerase II promoter; replication fork processing
Disease: Immunoosseous Dysplasia, Schimke Type
Reference #:  Q9NZC9 (UniProtKB)
Alt. Names/Synonyms: ATP-driven annealing helicase; HARP; HepA-related protein; hHARP; SMAL1; SMARCA-like protein 1; SMARCAL1; Sucrose nonfermenting protein 2-like 1; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Gene Symbols: SMARCAL1
Molecular weight: 105,938 Da
Basal Isoelectric point: 9.15  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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