XRCC1 Gene Summary [Human]
The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | XRCC1 |
| Official Name | X-ray repair cross complementing 1 [Source:HGNC Symbol;Acc:HGNC:12828] |
| Ensembl ID | ENSG00000073050 |
| Bio databases IDs | |
| Aliases | X-ray repair cross complementing 1 |
| Synonyms | Irgq, RCC, SCAR26, X-ray repair complementing defective repair in Chinese hamster cells 1, X-ray repair cross complementing 1 |
| 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 XRCC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- BRCT
- twin BRCT domain
- BRCT domain, a BRCA1 C-terminus domain
- enzyme binding
- linker domain
- XRCC1 N terminal domain
- enzyme
- protein binding
- nuclear transport domain
- single-stranded DNA specific endodeoxyribonuclease
- DNA ligase 3 BRCT domain
- binding protein
- damaged DNA binding
- BRCA1 C Terminus (BRCT) domain
- Acidic casein kinase ii consensus phosphorylation site
- breast cancer carboxy-terminal domain
- BRCT-like domain
Pathways
Biological processes and signaling networks where the XRCC1 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
- neutropenia
- stroke
- neurological disorder
- seizures
- breast cancer
- neuropathy
- gastrulation failure
- autosomal recessive spinocerebellar ataxia type 26
- prostate cancer
- ataxia
role in cell
- cell viability
- apoptosis
- survival
- cell death
- colony formation by
- accumulation in
- growth
- synthesis in
- damage in
- G2/M phase
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
- nucleoplasm
- nucleoli
- telomeres
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human XRCC1 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 hydroperoxide
- response to hypoxia
- voluntary musculoskeletal movement
- base-excision repair
- negative regulation of protein ADP-ribosylation
- hippocampus development
- response to xenobiotic stimulus
- double-strand break repair via nonhomologous end joining
- cerebellum morphogenesis
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- ERCC4-ERCC1 complex
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- poly-ADP-D-ribose binding
- protein binding
- oxidized DNA binding
- enzyme binding