SMARCAL1
Function
ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and 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. May play an important role in DNA damage response by acting at stalled replication forks.
Involvement in disease
Schimke immuno-osseous dysplasia
SIOD
An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
DNA damage-regulated phosphorylation by kinases that may include ATM, ATR and PRKDC.
Sequence Similarities
Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily.
Tissue Specificity
Ubiquitously expressed, with high levels in testis.
Cellular localization
- Nucleus
- Recruited to damaged DNA regions.
Alternative names
HARP, SMARCAL1, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1, HepA-related protein, Sucrose nonfermenting protein 2-like 1, hHARP