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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
  • 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 Gastric Cardia Carcinoma and Xeroderma Pigmentosum, Group D. Among its related pathways are DNA Double-Strand Break Repair and FOXM1 transcription factor network. GO annotations related to this gene include enzyme binding and damaged DNA binding. An important paralog of this gene is ENSG00000268361.

UniProtKB/Swiss-Prot for XRCC1 Gene

  • Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents.

Gene Wiki entry for XRCC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XRCC1 Gene

Genomics for XRCC1 Gene

Regulatory Elements for XRCC1 Gene

Enhancers for XRCC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G043751 1.7 FANTOM5 ENCODE dbSUPER 42.6 -175.4 -175404 8.9 CREB3L1 DMAP1 YBX1 FEZF1 YY1 ZNF143 ZNF416 ZNF548 ZNF263 SP3 ZNF45 ZNF180 ZNF225 ZNF224 ZNF234 ZNF284 LOC100505715 ZNF285 XRCC1 ZNF230
GH19G043773 2.1 FANTOM5 Ensembl ENCODE dbSUPER 26.8 -199.4 -199429 12.4 CREB3L1 AGO1 YBX1 ZNF416 ZNF143 ZNF263 SP3 ZFP41 MEF2D ZNF610 ZNF225 ZNF45 ZNF180 LOC100505715 ZNF284 ZNF223 ZNF224 ZNF234 ZNF285 ZNF428
GH19G044111 1.5 FANTOM5 ENCODE 34.8 -532.5 -532527 2.6 PKNOX1 FOXA2 CREB3L1 MLX ARNT SIN3A ARID4B ZNF2 YY1 ZNF766 ZNF45 ZNF180 ZNF225 ZNF224 ZNF234 ZNF155 ZNF284 LOC100379224 XRCC1 LOC100505715
GH19G044164 1.1 ENCODE 45.8 -584.8 -584777 1.8 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF45 ZNF180 ZNF155 ZNF224 ZNF225 ZNF284 ZNF234 XRCC1 ZNF230 LOC100505715
GH19G043618 1.5 FANTOM5 ENCODE 31.8 -39.2 -39186 2.6 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 SP3 ZNF610 GLIS1 RCOR2 ZNF45 ZNF225 ZNF180 ZNF234 ZNF224 ZNF284 LOC100505715 ZNF223 IRGQ XRCC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around XRCC1 on UCSC Golden Path with GeneCards custom track

Promoters for XRCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109973 -27 1001 JUND POLR2A FOXK2 BHLHE40 ZBTB33 PRDM10 TCF7L2
ENSR00000109972 78 1001 HDGF ATF1 WRNIP1 ARID4B SIN3A ZNF2 ETS1 SLC30A9 ZNF143 ZNF207

Genomic Location for XRCC1 Gene

Chromosome:
19
Start:
43,543,040 bp from pter
End:
43,580,473 bp from pter
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

Other Protein References for XRCC1 Gene

No data available for DME Specific Peptides for XRCC1 Gene

Domains & Families for XRCC1 Gene

Protein Domains for XRCC1 Gene

Suggested Antigen Peptide Sequences for XRCC1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for XRCC1 Gene

Function for XRCC1 Gene

Molecular function for XRCC1 Gene

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
UniProtKB/Swiss-Prot Function:
Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents.

Gene Ontology (GO) - Molecular Function for XRCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding IEA --
GO:0003909 DNA ligase activity TAS --
GO:0005515 protein binding IPI 14755728
GO:0019899 enzyme binding IPI 8532526
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

Animal Models for XRCC1 Gene

MGI Knock Outs for XRCC1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for XRCC1

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

Localization for XRCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XRCC1 Gene

Nucleus. Note=Accumulates at sites of DNA damage.

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 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for XRCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IEA --
GO:0005634 nucleus IDA,IEA --
GO:0005654 nucleoplasm TAS --
GO:0070522 ERCC4-ERCC1 complex IEA --
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

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2770
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1460
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2050
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2935
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1856

(29) 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

Unigene Clusters for XRCC1 Gene

X-ray repair complementing defective repair in Chinese hamster cells 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
XRCC1

Expression for XRCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for XRCC1 Gene



Protein tissue co-expression partners for XRCC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of XRCC1 Gene:

XRCC1

SOURCE GeneReport for Unigene cluster for XRCC1 Gene:

Hs.98493

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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia XRCC1 34 35
  • 87.65 (n)
cow
(Bos Taurus)
Mammalia XRCC1 34 35
  • 86.48 (n)
rat
(Rattus norvegicus)
Mammalia Xrcc1 34
  • 84.95 (n)
mouse
(Mus musculus)
Mammalia Xrcc1 34 16 35
  • 84.79 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia xrcc1 34
  • 61.48 (n)
African clawed frog
(Xenopus laevis)
Amphibia xrcc1-prov 34
zebrafish
(Danio rerio)
Actinopterygii xrcc1 34 35
  • 57.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta XRCC1 36 35
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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 from dbSNP and Humsavar for XRCC1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_036277 A colorectal cancer sample
rs25487 drug-response 43,551,574(-) CTCCC(A/G)GAGGT reference, missense
rs1000096322 -- 43,568,461(+) TACTA(C/T)ACTCC intron-variant
rs1000196241 -- 43,559,377(+) ACTCC(A/G)GAGGC intron-variant
rs1000311454 -- 43,562,064(+) TCTCT(G/T)GAACC intron-variant

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)

Relevant External Links for XRCC1 Gene

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

Disorders for XRCC1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for XRCC1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gastric cardia carcinoma
  • carcinoma of cardia of stomach
xeroderma pigmentosum, group d
  • xeroderma pigmentosum group d
fibrosclerosis of breast
  • fibrosis of the breast
non-proliferative fibrocystic change of the breast
  • non-proliferative fibrocystic change
mutagen sensitivity
- elite association - COSMIC cancer census association via MalaCards
Search XRCC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for XRCC1

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

No data available for UniProtKB/Swiss-Prot and 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 H.H. … Karagas M.R. (Cancer Res. 2002) 3 4 22 46 64
  2. 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. (J. Cancer Res. Clin. Oncol. 2010) 3 22 46 64
  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 R.K. … Mittal R.D. (DNA Cell Biol. 2010) 3 22 46 64
  4. Single-nucleotide polymorphisms in BER and HRR genes, XRCC1 haplotypes and breast cancer risk in Caucasian women. (PMID: 20140625) Sterpone S. … Cozzi R. (J. Cancer Res. Clin. Oncol. 2010) 3 22 46 64
  5. Pterygium and genetic polymorphisms of the DNA repair enzymes XRCC1, XPA, and XPD. (PMID: 20431719) Chiang C.C. … Tsai F.J. (Mol. Vis. 2010) 3 22 46 64

Products for XRCC1 Gene

  • Addgene plasmids for XRCC1

Sources for XRCC1 Gene

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