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.
3
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.
28
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
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.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
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.
35
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (35)
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Malignant tumor of esophagus Likely pathogenic rs574450911 RCV005931066
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia, autosomal recessive 26 Likely pathogenic; Pathogenic rs574450911, rs761564262, rs1555768154 RCV003316896
RCV000503104
RCV000499383
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (29)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHRONIC ISCHEMIC HEART DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (399)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 19052983
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 20013659
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30260704
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15534883, 15840879, 15990162, 18407370, 19673050, 21198260
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17264068, 18582155
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 15878910, 16571649, 17264068
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11104903, 20003463, 20052722, 23700156
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 12183419
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 18582155
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15767338, 16542436, 17164360
★★★★★
★☆☆☆☆
Found in Text Mining only