ERCC8 Gene Summary [Human]
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Details
| Type | Protein Coding |
| Official Symbol | ERCC8 |
| Official Name | ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Source:HGNC Symbol;Acc:HGNC:3439] |
| Ensembl ID | ENSG00000049167 |
| Bio databases IDs | |
| Aliases | ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
| Synonyms | 2410022P04Rik, 2810431L23Rik, 4631412O06Rik, B130065P18RIK, CKN1, CSA, Csb, ERCC excision repair 8, CSA ubiquitin ligase complex subunit, excision repaiross-complementing rodent repair deficiency, complementation group 8, UVSS2 |
| 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 ERCC8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Anaphase-promoting complex subunit 4 WD40 domain
- transcription regulator
- binding protein
- WD40 repeats
- ATPase domain
- ubiquitin-protein transferase activity
- protein binding activity, bridging
- WD domain, G-beta repeat
- WD40
- protein binding
Pathways
Biological processes and signaling networks where the ERCC8 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- hereditary disorder
- Cockayne syndrome type I
- Cockayne syndrome
- UV-sensitive syndrome type 2
- astrocytosis
- hearing loss
- Alzheimer disease
- photophobia
- schizophrenia
role in cell
- degradation in
- survival
- cell viability
- formation
- binding
- degeneration
- sensitivity
- binding in
- ubiquitination in
- formation in
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
- midbody
- nuclear foci
- nucleoplasm
- nucleoli
- nuclear matrix
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ERCC8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- single strand break repair
- response to oxidative stress
- proteasomal ubiquitin-dependent protein catabolic process
- response to X-ray
- protein polyubiquitination
- transcription-coupled nucleotide-excision repair
- response to UV
- regulation of transcription-coupled nucleotide-excision repair
- response to DNA damage stimulus
- protein autoubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleotide-excision repair complex
- Cul4A-RING ubiquitin ligase complex
- nuclear matrix
- macromolecular complex
- CUL4 RING ubiquitin ligase complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- protein binding