XRCC1 (X-ray repair cross complementing 1)

1. Identity

Alias_names
General Information
X-ray repair complementing defective repair in Chinese hamster cells 1
Other aliasSCAR26
HGNC (Hugo) XRCC1
LocusID (NCBI) 7515
Atlas_Id 42847
Location 19q13.31  [Link to chromosome band 19q13]
Location_base_pair Starts at 43543312 and ends at 43575578 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CEP295 (11q21) / XRCC1 (19q13.31)LLGL2 (17q25.1) / XRCC1 (19q13.31)URI1 (19q12) / XRCC1 (19q13.31)
XRCC1 (19q13.31) / MAL (2q11.1)C19orf2 XRCC1 19q13.31

2. DNA/RNA

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Lung: Translocations in Adenocarcinoma
t(2;19)(q11;q13) XRCC1/MAL
t(19;19)(q12;q13) URI1/XRCC1


3. External links

Nomenclature
HGNC (Hugo)XRCC1   12828
LRG (Locus Reference Genomic)LRG_784
Cards
Entrez_Gene (NCBI)XRCC1  7515  X-ray repair cross complementing 1
AliasesRCC; SCAR26
GeneCards (Weizmann)XRCC1
Ensembl hg19 (Hinxton)ENSG00000073050 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000073050 [Gene_View] &nbspENSG00000073050 [Sequence]  chr19:43543312-43575578 [Contig_View]  XRCC1 [Vega]
ICGC DataPortalENSG00000073050
TCGA cBioPortalXRCC1
AceView (NCBI)XRCC1
Genatlas (Paris)XRCC1
WikiGenes7515
SOURCE (Princeton)XRCC1
Genetics Home Reference (NIH)XRCC1
Genomic and cartography
GoldenPath hg38 (UCSC)XRCC1  -     chr19:43543312-43575578 -  19q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)XRCC1  -     19q13.31   [Description]    (hg19-Feb_2009)
EnsemblXRCC1 - 19q13.31 [CytoView hg19]  XRCC1 - 19q13.31 [CytoView hg38]
Mapping of homologs : NCBIXRCC1 [Mapview hg19]  XRCC1 [Mapview hg38]
OMIM194360   617633   
Gene and transcription
Genbank (Entrez)AB208781 AK293542 AK300163 AK315332 BC023593
RefSeq transcript (Entrez)NM_006297
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)XRCC1
Cluster EST : UnigeneHs.98493 [ NCBI ]
CGAP (NCI)Hs.98493
Alternative Splicing GalleryENSG00000073050
Gene ExpressionXRCC1 [ NCBI-GEO ]   XRCC1 [ EBI - ARRAY_EXPRESS ]   XRCC1 [ SEEK ]   XRCC1 [ MEM ]
Gene Expression Viewer (FireBrowse)XRCC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)7515
GTEX Portal (Tissue expression)XRCC1
Human Protein AtlasENSG00000073050-XRCC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18887   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP18887  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP18887
Splice isoforms : SwissVarP18887
PhosPhoSitePlusP18887
Domaine pattern : Prosite (Expaxy)BRCT (PS50172)   
Domains : Interpro (EBI)BRCT_dom    BRCT_dom_sf    Galactose-bd-like_sf    Xrcc1_N   
Domain families : Pfam (Sanger)BRCT (PF00533)    BRCT_2 (PF16589)    XRCC1_N (PF01834)   
Domain families : Pfam (NCBI)pfam00533    pfam16589    pfam01834   
Domain families : Smart (EMBL)BRCT (SM00292)  
Conserved Domain (NCBI)XRCC1
DMDM Disease mutations7515
Blocks (Seattle)XRCC1
PDB (RSDB)1CDZ    1XNA    1XNT    2D8M    2W3O    3K75    3K77    3LQC    5E6Q   
PDB Europe1CDZ    1XNA    1XNT    2D8M    2W3O    3K75    3K77    3LQC    5E6Q   
PDB (PDBSum)1CDZ    1XNA    1XNT    2D8M    2W3O    3K75    3K77    3LQC    5E6Q   
PDB (IMB)1CDZ    1XNA    1XNT    2D8M    2W3O    3K75    3K77    3LQC    5E6Q   
Structural Biology KnowledgeBase1CDZ    1XNA    1XNT    2D8M    2W3O    3K75    3K77    3LQC    5E6Q   
SCOP (Structural Classification of Proteins)1CDZ    1XNA    1XNT    2D8M    2W3O    3K75    3K77    3LQC    5E6Q   
CATH (Classification of proteins structures)1CDZ    1XNA    1XNT    2D8M    2W3O    3K75    3K77    3LQC    5E6Q   
SuperfamilyP18887
Human Protein Atlas [tissue]ENSG00000073050-XRCC1 [tissue]
Peptide AtlasP18887
HPRD01909
IPIIPI00002564   IPI01010850   IPI00911037   IPI01010437   
Protein Interaction databases
DIP (DOE-UCLA)P18887
IntAct (EBI)P18887
FunCoupENSG00000073050
BioGRIDXRCC1
STRING (EMBL)XRCC1
ZODIACXRCC1
Ontologies - Pathways
QuickGOP18887
Ontology : AmiGOsingle strand break repair  double-strand break repair via homologous recombination  nuclear chromosome, telomeric region  nuclear chromatin  response to hypoxia  DNA ligase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  transcription-coupled nucleotide-excision repair  base-excision repair  base-excision repair, DNA ligation  nucleotide-excision repair, DNA gap filling  double-strand break repair via nonhomologous end joining  response to organic substance  negative regulation of protein ADP-ribosylation  enzyme binding  cerebellum morphogenesis  hippocampus development  oxidized DNA binding  response to hydroperoxide  response to drug  voluntary musculoskeletal movement  telomeric DNA-containing double minutes formation  ERCC4-ERCC1 complex  positive regulation of single strand break repair  positive regulation of single strand break repair  positive regulation of DNA ligase activity  negative regulation of protection from non-homologous end joining at telomere  replication-born double-strand break repair via sister chromatid exchange  3' overhang single-stranded DNA endodeoxyribonuclease activity  
Ontology : EGO-EBIsingle strand break repair  double-strand break repair via homologous recombination  nuclear chromosome, telomeric region  nuclear chromatin  response to hypoxia  DNA ligase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  transcription-coupled nucleotide-excision repair  base-excision repair  base-excision repair, DNA ligation  nucleotide-excision repair, DNA gap filling  double-strand break repair via nonhomologous end joining  response to organic substance  negative regulation of protein ADP-ribosylation  enzyme binding  cerebellum morphogenesis  hippocampus development  oxidized DNA binding  response to hydroperoxide  response to drug  voluntary musculoskeletal movement  telomeric DNA-containing double minutes formation  ERCC4-ERCC1 complex  positive regulation of single strand break repair  positive regulation of single strand break repair  positive regulation of DNA ligase activity  negative regulation of protection from non-homologous end joining at telomere  replication-born double-strand break repair via sister chromatid exchange  3' overhang single-stranded DNA endodeoxyribonuclease activity  
Pathways : KEGGBase excision repair   
NDEx NetworkXRCC1
Atlas of Cancer Signalling NetworkXRCC1
Wikipedia pathwaysXRCC1
Orthology - Evolution
OrthoDB7515
GeneTree (enSembl)ENSG00000073050
Phylogenetic Trees/Animal Genes : TreeFamXRCC1
HOGENOMP18887
Homologs : HomoloGeneXRCC1
Homology/Alignments : Family Browser (UCSC)XRCC1
Gene fusions - Rearrangements
Fusion : MitelmanURI1/XRCC1 [19q12/19q13.31] &nbsp[t(19;19)(q12;q13)]  
Fusion : MitelmanXRCC1/MAL [19q13.31/2q11.1] &nbsp[t(2;19)(q11;q13)]  
Fusion PortalC19orf2 XRCC1 19q13.31 OV
Fusion : QuiverXRCC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerXRCC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)XRCC1
dbVarXRCC1
ClinVarXRCC1
1000_GenomesXRCC1 
Exome Variant ServerXRCC1
ExAC (Exome Aggregation Consortium)ENSG00000073050
GNOMAD BrowserENSG00000073050
Varsome BrowserXRCC1
Genetic variants : HAPMAP7515
Genomic Variants (DGV)XRCC1 [DGVbeta]
DECIPHERXRCC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisXRCC1 
Mutations
ICGC Data PortalXRCC1 
TCGA Data PortalXRCC1 
Broad Tumor PortalXRCC1
OASIS PortalXRCC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICXRCC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDXRCC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch XRCC1
DgiDB (Drug Gene Interaction Database)XRCC1
DoCM (Curated mutations)XRCC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)XRCC1 (select a term)
intoGenXRCC1
Cancer3DXRCC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM194360    617633   
Orphanet
DisGeNETXRCC1
MedgenXRCC1
Genetic Testing Registry XRCC1
NextProtP18887 [Medical]
TSGene7515
GENETestsXRCC1
Target ValidationXRCC1
Huge Navigator XRCC1 [HugePedia]
snp3D : Map Gene to Disease7515
BioCentury BCIQXRCC1
ClinGenXRCC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7515
Chemical/Pharm GKB GenePA369
Clinical trialXRCC1
Miscellaneous
canSAR (ICR)XRCC1 (select the gene name)
DataMed IndexXRCC1
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineXRCC1
EVEXXRCC1
GoPubMedXRCC1
iHOPXRCC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:46:20 CET 2019

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