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 have DNA-dependent ATPase activity. Involved in cellular response to DNA damage stimulus and response to UV. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Cockayne syndrome; UV-sensitive syndrome; age related macular degeneration 5; lung cancer; and premature ovarian failure. 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