Gene
ercc6
- ID
- ZDB-GENE-070228-1
- Name
- excision repair cross-complementation group 6
- Symbol
- ercc6 Nomenclature History
- Previous Names
-
- CSB (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable ATP-dependent activity, acting on DNA. Acts upstream of or within cellular response to DNA damage stimulus and response to UV. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in several diseases, including Cockayne syndrome (multiple); De Sanctis-Cacchione syndrome; UV-sensitive syndrome; gastrointestinal system cancer (multiple); and respiratory system cancer (multiple). Orthologous to human ERCC6 (ERCC excision repair 6, chromatin remodeling factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Wei et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| age related macular degeneration 5 | Alliance | {Macular degeneration, age-related, susceptibility to, 5} | 613761 |
| cerebrooculofacioskeletal syndrome 1 | Alliance | Cerebrooculofacioskeletal syndrome 1 | 214150 |
| Cockayne syndrome B | Alliance | Cockayne syndrome, type B | 133540 |
| De Sanctis-Cacchione syndrome | Alliance | ?De Sanctis-Cacchione syndrome | 278800 |
| lung cancer | Alliance | {Lung cancer, susceptibility to} | 211980 |
| primary ovarian insufficiency 11 | Alliance | Premature ovarian failure 11 | 616946 |
| UV-sensitive syndrome | Alliance | UV-sensitive syndrome 1 | 600630 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000330 | SNF2, N-terminal |
| Domain | IPR001650 | Helicase, C-terminal domain-like |
| Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| Domain | IPR049730 | SNF2/RAD5-like, C-terminal helicase domain |
| Family | IPR050496 | SNF2/RAD54 Helicase and DNA Repair |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR038718 | SNF2-like, N-terminal domain superfamily |
Domain Details Per Protein
| Protein | Length | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal | SNF2/RAD54 Helicase and DNA Repair | SNF2/RAD5-like, C-terminal helicase domain |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M6Z974
|
1390 |
Interactions and Pathways
No data available
Plasmids
No data available