XRCC1 (X-ray repair cross complementing 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7515
Gene name Gene Name - the full gene name approved by the HGNC.
X-ray repair cross complementing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
XRCC1
Synonyms (NCBI Gene) Gene synonyms aliases
RCC, SCAR26
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
194360 12828 ENSG00000073050
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia spinocerebellar ataxia, autosomal recessive 26 rs761564262, rs1555768154 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Head and neck cancer head and neck cancer N/A N/A GenCC
Show/Hide Text Mining Associations (183)
Associations from Text Mining Disease 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