Version: 8.0.0Date: Tue Jan 28 2025
Gene
ERCC6
- Species
- Homo sapiens
- Symbol
- ERCC6
- Name
- ERCC excision repair 6, chromatin remodeling factor
- Synonyms
- ARMD5
- ATP-dependent helicase ERCC6
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including ATP binding activity; ATP-dependent chromatin remodeler activity; and protein tyrosine kinase activator activity. Involved in several processes, including DNA repair; negative regulation of double-strand break repair via nonhomologous end joining; and positive regulation of macromolecule metabolic process. Located in nuclear body; nucleolus; and site of DNA damage. Part of B-WICH complex and transcription elongation factor complex. Implicated in several diseases, including Cockayne syndrome (multiple); De Sanctis-Cacchione syndrome; UV-sensitive syndrome; gastrointestinal system cancer (multiple); and respiratory system cancer (multiple). Biomarker of colorectal cancer (multiple); lung cancer (multiple); and macular degeneration.
- RGD Description
- This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR47055
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr10:49434881...49539538 - (104.66 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.