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 to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination ... See more...

Aliases for XRCC1 Gene

Aliases for XRCC1 Gene

  • X-Ray Repair Cross Complementing 1 2 3 5
  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 1 2 3
  • X-Ray Repair Cross-Complementing Protein 1 3 4
  • DNA Repair Protein XRCC1 3 4
  • SCAR26 3
  • RCC 3

External Ids for XRCC1 Gene

Previous HGNC Symbols for XRCC1 Gene

  • RCC

Previous GeneCards Identifiers for XRCC1 Gene

  • GC19M044692
  • GC19M044439
  • GC19M048723
  • GC19M048739
  • GC19M044047
  • GC19M040478

Summaries for XRCC1 Gene

Entrez Gene Summary for XRCC1 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 to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]

CIViC Summary for XRCC1 Gene

GeneCards Summary for XRCC1 Gene

XRCC1 (X-Ray Repair Cross Complementing 1) is a Protein Coding gene. Diseases associated with XRCC1 include Spinocerebellar Ataxia, Autosomal Recessive 26 and Gastric Cardia Carcinoma. Among its related pathways are DNA Double-Strand Break Repair and Telomere C-strand (Lagging Strand) Synthesis. Gene Ontology (GO) annotations related to this gene include enzyme binding and damaged DNA binding. An important paralog of this gene is ENSG00000268361.

UniProtKB/Swiss-Prot Summary for XRCC1 Gene

  • Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP-ribosyltransferase PARP1 activity.

Gene Wiki entry for XRCC1 Gene

Additional gene information for XRCC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for XRCC1 Gene

Genomics for XRCC1 Gene

GeneHancer (GH) Regulatory Elements for XRCC1 Gene

Promoters and enhancers for XRCC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around XRCC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for XRCC1

Top Transcription factor binding sites by QIAGEN in the XRCC1 gene promoter:
  • AP-2gamma
  • c-Myb
  • COMP1
  • CUTL1
  • LCR-F1
  • NF-kappaB
  • NF-kappaB1
  • STAT1
  • STAT1beta

Genomic Locations for XRCC1 Gene

Genomic Locations for XRCC1 Gene
chr19:43,543,040-43,580,473
(GRCh38/hg38)
Size:
37,434 bases
Orientation:
Minus strand
chr19:44,047,192-44,084,625
(GRCh37/hg19)
Size:
37,434 bases
Orientation:
Minus strand

Genomic View for XRCC1 Gene

Genes around XRCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XRCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XRCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XRCC1 Gene

Proteins for XRCC1 Gene

  • Protein details for XRCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18887-XRCC1_HUMAN
    Recommended name:
    DNA repair protein XRCC1
    Protein Accession:
    P18887
    Secondary Accessions:
    • Q6IBS4
    • Q9HCB1

    Protein attributes for XRCC1 Gene

    Size:
    633 amino acids
    Molecular mass:
    69477 Da
    Quaternary structure:
    • Homodimer. Interacts with polynucleotide kinase (PNK), DNA polymerase-beta (POLB) and DNA ligase III (LIG3). Interacts with APTX and APLF. Interacts with APEX1; the interaction is induced by SIRT1 and increases with the acetylated form of APEX1.

    Three dimensional structures from OCA and Proteopedia for XRCC1 Gene

neXtProt entry for XRCC1 Gene

Post-translational modifications for XRCC1 Gene

  • Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and APLF.
  • Sumoylated.
  • Glycosylation at Thr296, Thr440, Ser446, Ser447, and Thr453
  • Modification sites at PhosphoSitePlus

Other Protein References for XRCC1 Gene

No data available for DME Specific Peptides for XRCC1 Gene

Domains & Families for XRCC1 Gene

Gene Families for XRCC1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for XRCC1 Gene

Blocks:
  • BRCT domain
  • DNA-repair protein Xrcc1, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for XRCC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56491, highly similar to DNA-repair protein XRCC1 (B4DEB2_HUMAN)
  • X-ray repair cross-complementing protein 1 (XRCC1_HUMAN)
genes like me logo Genes that share domains with XRCC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for XRCC1 Gene

Function for XRCC1 Gene

Molecular function for XRCC1 Gene

UniProtKB/Swiss-Prot Function:
Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP-ribosyltransferase PARP1 activity.
GENATLAS Biochemistry:
repair X-ray defect,complementing defect in CHO cells,1,involved in single-strand DNA break rejoining,susceptibility gene for squamous cell carcinoma of the head and neck

Phenotypes From GWAS Catalog for XRCC1 Gene

Gene Ontology (GO) - Molecular Function for XRCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding IEA --
GO:0005515 protein binding IPI 14755728
GO:0019899 enzyme binding IPI 8532526
GO:0032356 oxidized DNA binding IMP 28002403
GO:1990599 3' overhang single-stranded DNA endodeoxyribonuclease activity IEA --
genes like me logo Genes that share ontologies with XRCC1: view
genes like me logo Genes that share phenotypes with XRCC1: view

Human Phenotype Ontology for XRCC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for XRCC1 Gene

MGI Knock Outs for XRCC1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XRCC1

Clone Products

  • Addgene plasmids for XRCC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for XRCC1 Gene

Localization for XRCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XRCC1 Gene

Nucleus. Note=Moves from the nucleoli to the global nuclear chromatin upon DNA damage. {ECO:0000269 PubMed:28002403}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XRCC1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for XRCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IEA --
GO:0000790 nuclear chromatin IDA 28002403
GO:0005634 nucleus IBA,IEA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 28002403
genes like me logo Genes that share ontologies with XRCC1: view

Pathways & Interactions for XRCC1 Gene

genes like me logo Genes that share pathways with XRCC1: view

Pathways by source for XRCC1 Gene

1 Qiagen pathway for XRCC1 Gene
  • DNA Repair Mechanisms
1 Cell Signaling Technology pathway for XRCC1 Gene

SIGNOR curated interactions for XRCC1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for XRCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000012 single strand break repair IEA --
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0001666 response to hypoxia IEA --
GO:0006281 DNA repair IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with XRCC1: view

Drugs & Compounds for XRCC1 Gene

(26) Drugs for XRCC1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3570
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2036
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2258
Platinum compounds Pharma 0

(26) Additional Compounds for XRCC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with XRCC1: view

Transcripts for XRCC1 Gene

mRNA/cDNA for XRCC1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XRCC1

Clone Products

  • Addgene plasmids for XRCC1

Alternative Splicing Database (ASD) splice patterns (SP) for XRCC1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - -
SP2: - -
SP3:
SP4: - -
SP5: - - - -
SP6:
SP7: - - - -
SP8:

Relevant External Links for XRCC1 Gene

GeneLoc Exon Structure for
XRCC1

Expression for XRCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for XRCC1 Gene

Protein differential expression in normal tissues from HIPED for XRCC1 Gene

This gene is overexpressed in Lymph node (7.0) and Gallbladder (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for XRCC1 Gene



Protein tissue co-expression partners for XRCC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for XRCC1

SOURCE GeneReport for Unigene cluster for XRCC1 Gene:

Hs.98493

mRNA Expression by UniProt/SwissProt for XRCC1 Gene:

P18887-XRCC1_HUMAN
Tissue specificity: Expressed in fibroblasts, retinal pigmented epithelial cells and lymphoblastoid cells (at protein level).

Evidence on tissue expression from TISSUES for XRCC1 Gene

  • Eye(4.3)
  • Liver(4.3)
  • Nervous system(3.5)
  • Blood(2.8)
  • Lung(2.3)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with XRCC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for XRCC1 Gene

Orthologs for XRCC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for XRCC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XRCC1 31 30
  • 99.04 (n)
OneToOne
dog
(Canis familiaris)
Mammalia XRCC1 31 30
  • 87.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia XRCC1 31 30
  • 86.48 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xrcc1 30
  • 84.95 (n)
mouse
(Mus musculus)
Mammalia Xrcc1 17 31 30
  • 84.79 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia xrcc1 30
  • 61.48 (n)
African clawed frog
(Xenopus laevis)
Amphibia xrcc1-prov 30
zebrafish
(Danio rerio)
Actinopterygii xrcc1 31 30
  • 57.71 (n)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta XRCC1 31 32
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for XRCC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for XRCC1 Gene

ENSEMBL:
Gene Tree for XRCC1 (if available)
TreeFam:
Gene Tree for XRCC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for XRCC1: view image

Paralogs for XRCC1 Gene

Paralogs for XRCC1 Gene

genes like me logo Genes that share paralogs with XRCC1: view

Variants for XRCC1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for XRCC1 Gene

XRCC1_HUMAN-P18887
Carriers of the polymorphic Gln-399 allele may be at greater risk for tobacco- and age-related DNA damage.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for XRCC1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
708626 Benign: not provided 43,552,248(-) G/A MISSENSE_VARIANT
710384 Benign: not provided 43,561,015(-) C/T SYNONYMOUS_VARIANT
711731 Benign: not provided 43,560,950(-) A/G MISSENSE_VARIANT
719831 Benign: not provided 43,552,199(-) T/C SYNONYMOUS_VARIANT
724299 Likely Benign: not provided 43,554,769(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for XRCC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for XRCC1 Gene

Variant ID Type Subtype PubMed ID
dgv3603n100 CNV gain 25217958
nsv1056785 CNV gain 25217958
nsv1057657 CNV gain 25217958
nsv1063149 CNV gain 25217958
nsv1123259 CNV deletion 24896259
nsv1134793 CNV deletion 24896259

Variation tolerance for XRCC1 Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.78; 83.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XRCC1 Gene

Human Gene Mutation Database (HGMD)
XRCC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XRCC1

SNP Genotyping and Copy Number Assay Products

Disorders for XRCC1 Gene

MalaCards: The human disease database

(47) MalaCards diseases for XRCC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 26
  • scar26
gastric cardia carcinoma
  • carcinoma of cardia of stomach
cardia cancer
  • ca cardia - stomach
sister chromatid exchange, frequency of
  • sce, frequency of
apraxia
  • dyspraxia
- elite association - COSMIC cancer census association via MalaCards
Search XRCC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XRCC1_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 26 (SCAR26) [MIM:617633]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR26 is a progressive disease characterized by gait and limb ataxia, loss of independent ambulation, oculomotor apraxia, and peripheral neuropathy with distal muscle weakness and areflexia. {ECO:0000269 PubMed:28002403}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for XRCC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with XRCC1: view

No data available for Genatlas for XRCC1 Gene

Publications for XRCC1 Gene

  1. The XRCC1 Arg399Gln polymorphism, sunburn, and non-melanoma skin cancer: evidence of gene-environment interaction. (PMID: 11782372) Nelson HH … Karagas MR (Cancer research 2002) 3 4 23 41 54
  2. Pterygium and genetic polymorphisms of the DNA repair enzymes XRCC1, XPA, and XPD. (PMID: 20431719) Chiang CC … Tsai FJ (Molecular vision 2010) 3 23 41 54
  3. DNA repair gene X-ray repair cross-complementing group 1 and xeroderma pigmentosum group D polymorphisms and risk of prostate cancer: a study from North India. (PMID: 20070155) Mandal RK … Mittal RD (DNA and cell biology 2010) 3 23 41 54
  4. The value of XPD and XRCC1 genotype polymorphisms to predict clinical outcome in metastatic colorectal carcinoma patients with irinotecan-based regimens. (PMID: 19908066) Artac M … Savas B (Journal of cancer research and clinical oncology 2010) 3 23 41 54
  5. Single-nucleotide polymorphisms in BER and HRR genes, XRCC1 haplotypes and breast cancer risk in Caucasian women. (PMID: 20140625) Sterpone S … Cozzi R (Journal of cancer research and clinical oncology 2010) 3 23 41 54

Products for XRCC1 Gene

Sources for XRCC1 Gene