Aliases for ERCC6L Gene
- ERCC Excision Repair 6 Like, Spindle Assembly Checkpoint Helicase 2 3 5
- PICH 2 3 4
- Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6-Like 2 3
- Excision Repair Cross-Complementation Group 6 Like 2 3
- DNA Excision Repair Protein ERCC-6-Like 3 4
- PLK1-Interacting Checkpoint Helicase 2 4
- ATP-Dependent Helicase ERCC6-Like 3 4
- Tumor Antigen BJ-HCC-15 3 4
External Ids for ERCC6L Gene
Previous GeneCards Identifiers for ERCC6L Gene
This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017]
GeneCards Summary for ERCC6L Gene
ERCC6L (ERCC Excision Repair 6 Like, Spindle Assembly Checkpoint Helicase) is a Protein Coding gene. Diseases associated with ERCC6L include Combined Malonic And Methylmalonic Aciduria and Klippel-Trenaunay-Weber Syndrome. Among its related pathways are Signaling by GPCR and Mitotic Prometaphase. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is CHD9.
UniProtKB/Swiss-Prot Summary for ERCC6L Gene
DNA helicase that acts as an essential component of the spindle assembly checkpoint. Contributes to the mitotic checkpoint by recruiting MAD2 to kinetochores and monitoring tension on centromeric chromatin (PubMed:17218258). Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase (PubMed:17218258, PubMed:23973328). Functions as ATP-dependent DNA translocase (PubMed:23973328, PubMed:28977671). Can promote Holliday junction branch migration (in vitro) (PubMed:23973328).