SMARCAL1 : SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1


Description

The SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1) is a protein-coding gene located on chromosome 2.

The SMARCAL1 gene provides instructions for producing a protein that interacts with DNA. The SMARCAL1 protein aids in DNA replication when the process is halted by DNA damage. When DNA replication stalls, SMARCAL1 proteins repair the damage by rejoining the two strands of DNA's double helix, allowing replication to resume. SMARCAL1 is believed to influence the activity (expression) of other genes through various mechanisms. One method involves binding to specific DNA regions, activating or deactivating genes. Another mechanism involves binding to chromatin, the complex of DNA and protein that packages DNA into chromosomes. Research on similar proteins suggests that SMARCAL1 may be involved in chromatin remodeling, which alters the structure of chromatin and affects how tightly DNA is packaged. Chromatin remodeling regulates gene expression during development. When DNA is densely packed, gene expression is lower compared to when DNA is loosely packed.

SMARCAL1 is an ATP-dependent annealing helicase that preferentially binds to fork DNA compared to single-stranded (ssDNA) or double-stranded DNA (dsDNA). It catalyzes the rewinding of stably unwound DNA, reversing the action of many enzymes like helicases and polymerases that unwind DNA. It rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). SMARCAL1 acts throughout the genome to reanneal stably unwound DNA, potentially playing a crucial role in DNA damage response by acting at stalled replication forks. Its interaction with RPA2 is direct and facilitates the recruitment of SMARCAL1 to sites of DNA damage by the RPA complex.

SMARCAL1 is also known as HARP, HHARP.

Associated Diseases


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