ERCC4 Gene Summary [Human]
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | ERCC4 |
| Official Name | ERCC excision repair 4, endonuclease catalytic subunit [Source:HGNC Symbol;Acc:HGNC:3436] |
| Ensembl ID | ENSG00000175595 |
| Bio databases IDs | |
| Aliases | ERCC excision repair 4, endonuclease catalytic subunit, xeroderma pigmentosum, complementation group F |
| Synonyms | ERCC11, ERCC excision repair 4, endonuclease catalytic subunit, excision repair cross-complementing rodent repair deficiency, complementation group 4, FANCQ, LOC100365348, LOC103690357, LOC683847, LOC687284, LOC688631, RAD1, RGD1560340, XFEPS, XPF |
| 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 ERCC4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ERCC4 domain
- DNA repair protein (rad1)
- transcription factor binding
- chromatin binding
- enzyme
- protein binding
- PDDEXK family nucleases
- identical protein binding
- single-stranded DNA specific endodeoxyribonuclease
- nuclease domain of XPF/MUS81 family proteins
- DNA binding
- endonuclease
- binding protein
- damaged DNA binding
- single-stranded DNA binding
- N-terminal helicase domain of the DEAD-box helicase superfamily
Pathways
Biological processes and signaling networks where the ERCC4 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
- epithelial cancer
- cancer
- epithelial neoplasia
- pancreatic neoplasia
- digestive system cancer
- abdominal cancer
- pancreaticobiliary cancer
- hereditary spastic ataxia
- ovarian cancer
- type F/Cockayne syndrome xeroderma pigmentosum
role in cell
- autophagy by
- damage in
- survival
- length
- breakage
- maintenance
- repair
- breakage in
- nucleotide excision repair in
- senescence
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
- nuclear fraction
- nucleoplasm
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ERCC4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- UV protection
- double-strand break repair via homologous recombination
- nucleotide-excision repair
- resolution of meiotic recombination intermediates
- telomere maintenance
- response to UV
- double-strand break repair via nonhomologous end joining
- regulation of autophagy
- cellular response to UV
- negative regulation of telomere maintenance
- negative regulation of telomerase activity
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleotide-excision repair factor 1 complex
- nucleus
- nucleotide-excision repair complex
- ERCC4-ERCC1 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- identical protein binding
- protein binding
- TFIID-class transcription factor binding
- endodeoxyribonuclease activity
- damaged DNA binding
- telomerase inhibitor activity
- single-stranded DNA specific endodeoxyribonuclease activity
- single-stranded DNA binding