XRCC3 Gene Summary [Human]
This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | XRCC3 |
| Official Name | X-ray repair cross complementing 3 [Source:HGNC Symbol;Acc:HGNC:12830] |
| Ensembl ID | ENSG00000126215 |
| Bio databases IDs | |
| Aliases | X-ray repair cross complementing 3, RAD51-like |
| Synonyms | CMM6, LOC102551085, X-ray repair complementing defective repair in Chinese hamster cells 3, X-ray repair cross complementing 3 |
| 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 XRCC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- crossover junction endoribonuclease
- DNA repair and recombination protein RadA
- meiotic recombinase Dmc1
- DNA secondary structure binding
- walker type A motif
- Rad51
- enzyme
- protein binding
- DNA repair protein RAD51
- P-loop containing Nucleoside Triphosphate Hydrolases
- AAA domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cutaneous melanoma cancer
- global developmental delay with intellectual disability
- susceptibility to breast cancer
- cancer
- insomnia
- skin cancer
- melanoma cancer
- skin neoplasia
- cutaneous malignant melanoma type 6
regulates
- PARP
- mitochondrial DNA
role in cell
- growth
- colony formation
- survival
- checkpoint control
- disassembly
- disassembly in
- homologous recombination in
- duplication
- hyperactivation in
- DNA damage response
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
- Cytoplasm
- perinuclear region
- Mitochondria
- cytosol
- nucleoplasm
- replication fork
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human XRCC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- resolution of mitotic recombination intermediates
- regulation of centrosome duplication
- positive regulation of mitotic cell cycle spindle assembly checkpoint
- double-strand break repair via homologous recombination
- DNA recombination
- telomere maintenance via recombination
- double-strand break repair via synthesis-dependent strand annealing
- response to DNA damage stimulus
Cellular Component
Where in the cell the gene product is active
- replication fork
- chromosome, telomeric region
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- Rad51C-XRCC3 complex
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- four-way junction DNA binding
- crossover junction endodeoxyribonuclease activity