XRCC1 (X-ray repair cross complementing 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7515
Gene name X-ray repair cross complementing 1
Gene symbol XRCC1
Synonyms (NCBI Gene)
RCCSCAR26
Chromosome 19
Chromosome location 19q13.31
Summary 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 t
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs25487 T>C,G Drug-response Coding sequence variant, missense variant
rs761564262 C>G Pathogenic Missense variant, coding sequence variant
rs1555768154 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT025546 hsa-miR-34a-5p Proteomics 21566225
MIRT045144 hsa-miR-186-5p CLASH 23622248
MIRT041371 hsa-miR-193b-3p CLASH 23622248
MIRT040679 hsa-miR-92b-3p CLASH 23622248
MIRT607136 hsa-miR-6867-5p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
E2F1 Activation 19031698
PLAG1 Unknown 16596326
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000012 Process Single strand break repair IEA
GO:0000012 Process Single strand break repair IMP 28002403
GO:0000781 Component Chromosome, telomeric region IEA
GO:0000785 Component Chromatin IDA 28002403
GO:0003684 Function Damaged DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
194360 12828 ENSG00000073050
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P18887
Protein name DNA repair protein XRCC1 (X-ray repair cross-complementing protein 1)
Protein function Scaffold protein involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes (PubMed:11163244, PubMed:28002403). Negatively regulates ADP-ribosyltransferase activity of PARP1 during base-excision re
PDB 1CDZ , 1XNA , 1XNT , 2D8M , 2W3O , 3K75 , 3K77 , 3LQC , 5E6Q , 5W7X , 5W7Y , 6WH1 , 6WH2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01834 XRCC1_N 1 → 149 XRCC1 N terminal domain Domain
PF00533 BRCT 315 → 390 BRCA1 C Terminus (BRCT) domain Family
PF00533 BRCT 538 → 616 BRCA1 C Terminus (BRCT) domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in fibroblasts, retinal pigmented epithelial cells and lymphoblastoid cells (at protein level). {ECO:0000269|PubMed:28002403}.
Sequence 
MPEIRLRHVVSCSSQDSTHCAENLLKADTYRKWRAAKAGEKTISVVLQLEKEEQIHSVDI
GNDGSAFVEVLVGSSAGGAGEQDYEVLLVTSSFMSPSESRSGSNPNRVRMFGPDKLVRAA
AEKRWDRVKIVCSQPYSKDSPFGLSFVRFHSPPDKDEAEAPSQKVTVTKLGQFRVKEEDE
SANSLRPGALFFSRINKTSPVTASDPAGPSYAAATLQASSAASSASPVSRAIGSTSKPQE
SPKGKRKLDLNQEEKKTPSKPPAQLSPSVPKRPKLPAPTRTPATAPVPARAQGAVTGKPR
GEGTEPRRPRAGPEELGKILQGVVVVLSGFQNPFRSELRDKALELGAKYRPDWTRDSTHL
ICAFANTPKYSQVLGLGGRIVRKEWVLDCHRMRRRLPSRRYLMAGPGSSSEEDEASHSGG
SGDEAPKLPQKQPQTKTKPTQAAGPSSPQKPPTPEETKAASPVLQEDIDIEGVQSEGQDN
GAEDSGDTEDELRRVAEQKEHRLPPGQEENGEDPYAGSTDENTDSEEHQEPPDLPVPELP
DFFQGKHFFLYGEFPGDERRKLIRYVTAFNGELEDNMSDRVQFVITAQEWDPSFEEALMD
NPSLAFVRPRWIYSCNEKQKLLPHQLYGVVPQA
Sequence length 633
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Base excision repair   Resolution of AP sites via the single-nucleotide replacement pathway
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
HDR through MMEJ (alt-NHEJ)
Gap-filling DNA repair synthesis and ligation in GG-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of esophagus Likely pathogenic rs574450911 RCV005931066
Spinocerebellar ataxia, autosomal recessive 26 Likely pathogenic; Pathogenic rs574450911, rs761564262, rs1555768154 RCV003316896
RCV000503104
RCV000499383
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs41558313 RCV005903011
Laryngeal squamous cell carcinoma association rs45592142, rs25489, rs1799780 RCV003329489
RCV003329490
RCV003329491
RCV003329492
Malignant tumor of urinary bladder Likely benign rs2307182 RCV005929854
Platinum compounds response - Efficacy drug response rs25487 RCV000660800
Show/Hide Text Mining Associations (183)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Disease Associate 23375119
Acute Radiation Syndrome Associate 29095251
Adenocarcinoma Associate 15534883, 17504380, 18478337, 21586140, 33202356, 40650316
Adenocarcinoma Mucinous Associate 22129893
Adenocarcinoma of Lung Associate 20003463, 20052722, 21264830, 23700156
Adenoma Associate 16542436
Arthritis Rheumatoid Associate 36835215
Asthenia Associate 33035787
Ataxia Telangiectasia Associate 25616696
Azoospermia Associate 17968463, 31004343