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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
XRCC1
X-ray repair cross complementing 1
Chromosome 19 Β· 19q13.31
NCBI Gene: 7515Ensembl: ENSG00000073050.13HGNC: HGNC:12828UniProt: B2RCY5
1,347PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of base-excision repairsite of DNA damagepoly-ADP-D-ribose bindingchromatinAdult-onset autosomal recessive cerebellar ataxialaryngeal squamous cell carcinomaneurodegenerative diseasebreast cancer
✦AI Summary

XRCC1 (X-ray repair cross complementing 1) is a scaffold protein that plays a critical role in DNA single-strand break (SSB) repair by facilitating the assembly of DNA repair protein complexes 1. The protein functions as a molecular scaffold that interacts with multiple enzymatic components including DNA kinase, phosphatase, polymerase, deadenylase, and ligase activities to accelerate repair of various DNA single-strand breaks 1. A key regulatory mechanism involves XRCC1's ability to negatively regulate PARP1 (poly(ADP-ribose) polymerase 1) activity during base-excision repair by recognizing and binding poly-ADP-ribose chains, specifically binding auto-poly-ADP-ribosylated PARP1 to limit its activity 2. When XRCC1 is deficient, excessive PARP1 activity occurs, leading to impaired transcriptional recovery following DNA base damage through aberrant recruitment of the ubiquitin protease USP3 2. This dysfunction can trigger neurological disease, as demonstrated in XRCC1-deficient patient fibroblasts and mouse neurons 2. XRCC1 mutations are associated with spinocerebellar ataxia, highlighting its clinical significance in preventing hereditary neurodegenerative disease 1. Recent research has also identified novel regulatory mechanisms, including lactylation-mediated nuclear translocation of XRCC1 for DNA damage repair in glioblastoma cells 3.

Sources cited
1
XRCC1 functions as a molecular scaffold protein interacting with multiple DNA repair enzymes and its relationship to hereditary neurodegenerative disease
PMID: 31324530
2
XRCC1 negatively regulates PARP1 activity during base-excision repair and prevents transcriptional dysfunction through controlling USP3 activity
PMID: 34811483
3
XRCC1 undergoes lactylation-mediated nuclear translocation for DNA damage repair in glioblastoma cells
PMID: 39111282
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Adult-onset autosomal recessive cerebellar ataxiaOpen Targets
0.69Moderate
laryngeal squamous cell carcinomaOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.26Weak
breast cancerOpen Targets
0.11Weak
lung cancerOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
head and neck squamous cell carcinomaOpen Targets
0.10Weak
nasopharyngeal carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.10Suggestive
triple-negative breast cancerOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.09Suggestive
renal cell carcinomaOpen Targets
0.09Suggestive
adenomaOpen Targets
0.09Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
Spinocerebellar ataxia, autosomal recessive, 26UniProt
Pathogenic Variants3
NM_006297.3(XRCC1):c.1293G>C (p.Lys431Asn)Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 26|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 431
NM_006297.3(XRCC1):c.1015C>T (p.Arg339Ter)Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 26|Malignant tumor of esophagus
β˜…β˜†β˜†β˜†2023β†’ Residue 339
NM_006297.3(XRCC1):c.1393C>T (p.Gln465Ter)Pathogenic
Spinocerebellar ataxia, autosomal recessive 26
β˜†β˜†β˜†β˜†2017β†’ Residue 465
View on ClinVar β†—
Related Genes
PARP1Protein interaction100%APEX1Protein interaction100%MPGProtein interaction100%MUTYHProtein interaction100%NTHL1Protein interaction100%TDGProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Brain
79%
Bone Marrow
70%
Lung
68%
Heart
50%
Liver
39%
Gene Interaction Network
Click a node to explore
XRCC1PARP1APEX1MPGMUTYHNTHL1TDG
PROTEIN STRUCTURE
Preparing viewer…
PDB2W3O Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.61 [0.49–0.77]
RankingsWhere XRCC1 stands among ~20K protein-coding genes
  • #98of 20,598
    Most Researched1,347 Β· top 1%
  • #3,884of 5,498
    Most Pathogenic Variants3
  • #6,267of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedXRCC1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Lactylation: Linking the Warburg effect to DNA damage repair.
PMID: 39111282
Cell Metab Β· 2024
1.00
2
Associations between XRCC1 Gene Polymorphisms and Coronary Artery Disease: A Meta-Analysis.
PMID: 27870881
PLoS One Β· 2016
0.98
3
XRCC1 protects transcription from toxic PARP1 activity during DNA base excision repair.
PMID: 34811483
Nat Cell Biol Β· 2021
0.90
4
DNA repair gene XRCC1 polymorphisms and head and neck cancer risk: an updated meta-analysis including 16344 subjects.
PMID: 24086310
PLoS One Β· 2013
0.88
5
Association between XRCC1 and XRCC3 gene polymorphisms and risk of thyroid cancer.
PMID: 26045834
Int J Clin Exp Pathol Β· 2015
0.86