SMARCAL1

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]

Full Name

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.

Biological Process

Biological Process cellular response to DNA damage stimulusManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process DNA repairManual Assertion Based On ExperimentIBA:GO_Central
Biological Process double-strand break repair via nonhomologous end joiningManual Assertion Based On ExperimentIMP:CACAO
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process replication fork processingManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process replication fork protectionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process t-circle formationManual Assertion Based On ExperimentTAS:BHF-UCL

Cellular Location

Nucleus
Recruited to damaged DNA regions.

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.

PTM

DNA damage-regulated phosphorylation by kinases that may include ATM, ATR and PRKDC.