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XRCC1 Gene(Protein Coding)

X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 1

GCID:
GC19M043543
GIFtS:
65
Genes Participants
UDN Logo

Aliases for XRCC1 Gene

Aliases for XRCC1 Gene

  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 1 2 3 5
  • X-Ray Repair Cross-Complementing Protein 1 3 4
  • 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]

GeneCards Summary for XRCC1 Gene

XRCC1 (X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 1) is a Protein Coding gene. Diseases associated with XRCC1 include Gastric Cardia Carcinoma and Fibrosclerosis Of Breast. Among its related pathways are FOXM1 transcription factor network and Transcription-Coupled Nucleotide Excision Repair (TC-NER). 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

Products:

  1. Regulatory Element

Regulatory Elements for XRCC1 Gene

Enhancers for XRCC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around XRCC1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the XRCC1 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for XRCC1 Gene

Proteins for XRCC1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for XRCC1 Gene at MOPED

Protein Expression for XRCC1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for XRCC1 Gene

Other Protein References for XRCC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for XRCC1 Gene

Domains & Families for XRCC1 Gene

Protein Domains for XRCC1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for XRCC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P18887

UniProtKB/Swiss-Prot:

XRCC1_HUMAN :
  • Contains 2 BRCT domains.
Domain:
  • Contains 2 BRCT domains.
genes like me logo Genes that share domains with XRCC1: view

No data available for Gene Families for XRCC1 Gene

Function for XRCC1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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.

Phenotypes for XRCC1 Gene

MGI mutant phenotypes for XRCC1:
inferred from 2 alleles
GenomeRNAi human phenotypes for XRCC1:
genes like me logo Genes that share phenotypes with XRCC1: view

Animal Models for XRCC1 Gene

MGI Knock Outs for XRCC1:

Animal Model Products

miRNA for XRCC1 Gene

miRTarBase miRNAs that target XRCC1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for XRCC1 Gene COMPARTMENTS Subcellular localization image for XRCC1 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for XRCC1 Gene

Pathways & Interactions for XRCC1 Gene

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

Pathways by source for XRCC1 Gene

1 Cell Signaling Technology pathway for XRCC1 Gene
1 KEGG pathway for XRCC1 Gene
1 Qiagen 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:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006288 base-excision repair, DNA ligation TAS --
GO:0006297 nucleotide-excision repair, DNA gap filling TAS --
genes like me logo Genes that share ontologies with XRCC1: view

Drugs & Compounds for XRCC1 Gene

Products:

  1. Drug

(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 2569
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1338
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 1910
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2701
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1697

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for XRCC1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(374) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for XRCC1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for XRCC1 Gene

mRNA expression in normal human tissues for XRCC1 Gene
mRNA expression by BioGPS for XRCC1 GenemRNA expression by GTEx 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, MOPED, and MaxQB for XRCC1 Gene



SOURCE GeneReport for Unigene cluster for XRCC1 Gene Hs.98493

genes like me logo Genes that share expression patterns with XRCC1: view

Protein tissue co-expression partners for XRCC1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
 Mammalia XRCC1 35
  • 86.48 (n)
  • 88.11 (a)
XRCC1 36
  • 87 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia XRCC1 35
  • 87.65 (n)
  • 89.35 (a)
XRCC1 36
  • 89 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Xrcc1 35
  • 84.79 (n)
  • 86.49 (a)
Xrcc1 16
Xrcc1 36
  • 86 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia XRCC1 35
  • 99.04 (n)
  • 98.71 (a)
XRCC1 36
  • 96 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Xrcc1 35
  • 84.95 (n)
  • 86.49 (a)
oppossum
(Monodelphis domestica)
 Mammalia -- 36
  • 56 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 54 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia xrcc1 35
  • 61.48 (n)
  • 60.33 (a)
African clawed frog
(Xenopus laevis)
 Amphibia xrcc1-prov 35
zebrafish
(Danio rerio)
 Actinopterygii xrcc1 35
  • 57.71 (n)
  • 54.26 (a)
xrcc1 36
  • 51 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta XRCC1 37
  • 40 (a)
XRCC1 36
  • 29 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 37 (a)
 OneToMany
Species with no ortholog for XRCC1:
  • 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
rs25487 - 43,551,574(-) CTCCC(A/G)GAGGT reference, missense
rs1799782 - 43,553,422(-) TCAGC(C/T)GGATC reference, missense
rs25489 - 43,552,260(-) AACTC(A/C/G)TACCC reference, missense
VAR_014773 -
VAR_014774 -

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

Variant ID Type Subtype PubMed ID
nsv912107 CNV Loss 21882294

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

Disorders for XRCC1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gastric cardia carcinoma
  • carcinoma of cardia of stomach
fibrosclerosis of breast
  • fibrosis of the breast
mutagen sensitivity
non-proliferative fibrocystic change of the breast
  • non-proliferative fibrocystic change
xeroderma pigmentosum, group d
  • xeroderma pigmentosum, complementation group d
- 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 23 48 67
  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 23
  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 23
  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 23
  5. Genetic polymorphisms of XRCC1, HOGG1 and MGMT and micronucleus occurrence in Chinese vinyl chloride-exposed workers. (PMID: 20378691) Wang Q. … Xia Z.L. (Carcinogenesis 2010) 3 23

Products for XRCC1 Gene

  • Addgene plasmids for XRCC1

Sources for XRCC1 Gene

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