ERCC3 Gene Summary [Human]
This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Details
| Type | Retained Intron |
| Official Symbol | ERCC3 |
| Official Name | ERCC excision repair 3, TFIIH core complex helicase subunit [Source:HGNC Symbol;Acc:HGNC:3435] |
| Ensembl ID | ENSG00000163161 |
| Bio databases IDs | |
| Aliases | ERCC excision repair 3, TFIIH core complex helicase subunit, xeroderma pigmentosum group B complementing |
| Synonyms | BTF2, BTF2 p89, DNA repair protein complementing xp, ERCC excision repair 3, TFIIH core complex helicase subunit, excision repair cross-complementing rodent repair deficiency, complementation group 3, GTF2H, p89 TFIIH, RAD25, Ssl2, TFIIH, TTD2, XPB |
| 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 ERCC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA binding domain
- DEAD/DEAH box helicase
- helicase superfamily c-terminal domain
- nuclear localization sequence
- DNA repair helicase rad25
- chromatin binding
- enzyme
- protein binding
- ATPase
- Helicase conserved C-terminal domain
- DNA binding
- DNA helicase
- helicase domain
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the ERCC3 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
- type B/Cockayne syndrome xeroderma pigmentosum
- venous thromboembolism
- xeroderma pigmentosum
- hereditary disorder
- xeroderma pigmentosum complementation group B
- Cockayne syndrome
- photosensitive trichothiodystrophy 2
- ovarian cancer
- infection by HIV-1
role in cell
- apoptosis
- growth
- phosphorylation in
- differentiation
- nucleotide excision repair in
- checkpoint control
- irofulven sensitivity
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
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ERCC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- nucleotide-excision repair, DNA duplex unwinding
- UV protection
- transcription-coupled nucleotide-excision repair
- protein localization
- transcription from RNA polymerase II promoter
- nucleotide-excision repair
- response to UV
- embryonic organ development
- DNA topological change
- transcription initiation from RNA polymerase II promoter
- transcription elongation from RNA polymerase II promoter
- response to oxidative stress
- response to hypoxia
- positive regulation of apoptotic process
- apoptotic process
- hair cell differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor TFIID complex
- core TFIIH complex
- holo TFIIH complex
- nucleotide-excision repair factor 3 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- DNA binding
- ATP binding
- protein binding
- 3'-5' DNA helicase activity
- damaged DNA binding
- isomerase activity