ERCC6L Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ERCC6L |
| Official Name | ERCC excision repair 6 like, spindle assembly checkpoint helicase [Source:HGNC Symbol;Acc:HGNC:20794] |
| Ensembl ID | ENSG00000186871 |
| Bio databases IDs | |
| Aliases | ERCC excision repair 6 like, spindle assembly checkpoint helicase, PLK1-interacting checkpoint helicase |
| Synonyms | D330021P09Rik, ERCC excision repair 6 like, spindle assembly checkpoint helicase, excision repair cross-complementing rodent repair deficiency complementation group 6 like, PICH, RAD26L, RGD1565734 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ERCC6L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA translocase
- helicase superfamily c-terminal domain
- DEAD/DEAH box helicase
- SNF2-related domain
- N-terminal helicase domain of the DEAD-box helicase superfamily
- enzyme
- protein binding
- DEAD-like helicases superfamily
- Helicase conserved C-terminal domain
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cervical cancer
- breast cancer
- diffuse large B-cell lymphoma
- hepatocellular carcinoma
- organismal death
- liver cancer
- epithelial cancer
- epithelial uterine cancer
- chromophobe renal cell carcinoma
- chromophobe renal cancer
role in cell
- proliferation
- apoptosis
- cell death
- function
- replicative senescence
- abnormal morphology
- missegregation
- instability
- spindle checkpoint
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- centromeric thread
- cytosol
- kinetochores
- chromosomal arms
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ERCC6L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- chromatin remodeling
Cellular Component
Where in the cell the gene product is active
- membrane
- cytosol
- kinetochore
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- DNA binding
- ATP binding
- protein binding
- DNA translocase activity
- helicase activity