XRCC1
X-Ray Repair Cross Complementing 1: A Key Scaffold Protein in DNA Single-Strand Break Repair
Gene Information Card
| Symbol | XRCC1 |
|---|---|
| Full Name | X-Ray Repair Cross Complementing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.31 |
| NCBI Gene ID | 7515 ncbi.nlm.nih.gov/gene/7515 |
| Ensembl ID | ENSG00000073050 |
| UniProt ID | P18887 |
| OMIM ID | 194360 |
| HGNC ID | 12828 |
| Aliases | RCC, X-ray repair cross-complementing protein 1 |
Description
XRCC1 encodes a scaffold protein that coordinates the repair of DNA single-strand breaks (SSBs) and base excision repair (BER). It interacts with DNA ligase III, DNA polymerase beta, and poly(ADP-ribose) polymerase (PARP) to facilitate efficient repair. XRCC1 does not possess enzymatic activity but is essential for the assembly and stability of repair complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | XRCC1 polymorphisms (e.g., Arg399Gln) reduce repair capacity, increasing susceptibility to tobacco-induced DNA damage | ClinVar, COSMIC |
| Breast cancer | Reduced XRCC1 expression impairs BER, leading to genomic instability | NCBI Gene, OMIM |
| Xeroderma pigmentosum variant-like phenotype | Biallelic XRCC1 mutations cause severe SSB repair deficiency, neurological abnormalities, and photosensitivity | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Brain | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.1 | Cervical cancer cell line |
| A549 | 13.5 | Lung carcinoma cell line |
| MCF7 | 10.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Arg399Gln (rs25487) | Missense | ~35% in European populations | Reduced DNA repair capacity; associated with cancer risk |
| Arg194Trp (rs1799782) | Missense | ~10% in Asian populations | Altered BER efficiency; protective in some cancers |
| Pro206Leu | Missense | Rare | Impaired interaction with DNA polymerase beta; severe repair defect |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (e.g., frameshift, nonsense) cause severe SSB repair deficiency, leading to neurodegeneration and sensitivity to genotoxic stress.
Gain of Function (GOF)
No known gain-of-function mutations.
Dominant Negative (DN)
Some missense variants (e.g., Pro206Leu) may exert dominant-negative effects by disrupting protein-protein interactions in the repair complex.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • base-excision repair |
| • single-strand break repair | • protein binding |
| • damaged DNA binding | • chromatin binding |
Pathways
• Base excision repair (BER)
• Single-strand break repair (SSBR)
• PARP1-mediated repair
Protein Summary
XRCC1 is a 633-amino acid scaffold protein with three main domains: an N-terminal domain that binds DNA polymerase beta, a central BRCT1 domain that interacts with PARP1 and PARP2, and a C-terminal BRCT2 domain that binds DNA ligase III. It is essential for the rapid and efficient repair of single-strand breaks and base damage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XRCC1 Knockout HEK293 Cell Line | EDJ-KQ17916 | Human | 7515 | Details Get a Quote |
| XRCC1 Knockout A-549 Cell Line | EDJ-KQ23023 | Human | 7515 | Details Get a Quote |
| XRCC1 Knockout HCT 116 Cell Line | EDJ-KQ23025 | Human | 7515 | Details Get a Quote |
| XRCC1 Knockout HeLa Cell Line | EDJ-KQ23026 | Human | 7515 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
