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Aliases for XRCC3 Gene

Aliases for XRCC3 Gene

  • X-Ray Repair Cross Complementing 3 2 3 5
  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 3 2 3
  • X-Ray Repair Cross-Complementing Protein 3 3 4
  • DNA Repair Protein XRCC3 3
  • RAD51-Like 2
  • CMM6 3

External Ids for XRCC3 Gene

Previous GeneCards Identifiers for XRCC3 Gene

  • GC14M101555
  • GC14M097979
  • GC14M102153
  • GC14M103233
  • GC14M104163
  • GC14M084342

Summaries for XRCC3 Gene

Entrez Gene Summary for XRCC3 Gene

  • This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for XRCC3 Gene

XRCC3 (X-Ray Repair Cross Complementing 3) is a Protein Coding gene. Diseases associated with XRCC3 include Melanoma, Cutaneous Malignant, 6 and Breast Cancer. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). GO annotations related to this gene include DNA-dependent ATPase activity and crossover junction endodeoxyribonuclease activity.

UniProtKB/Swiss-Prot for XRCC3 Gene

  • Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD21 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C.

Gene Wiki entry for XRCC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XRCC3 Gene

Genomics for XRCC3 Gene

Regulatory Elements for XRCC3 Gene

Enhancers for XRCC3 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
GH14G104665 1.9 FANTOM5 Ensembl ENCODE dbSUPER 34.7 -951.0 -951007 2.9 HDGF YBX1 DMAP1 ZBTB7B ZNF302 ZNF207 FOS SP5 ZHX2 ZNF662 ENSG00000257270 XRCC3 TMEM121 RPS20P33 ENSG00000269940 PACS2 LINC00638 ENSG00000256050 INF2 TMEM179
GH14G103054 1.4 ENCODE dbSUPER 39.5 +658.7 658733 3.9 HDGF FOXA2 ARNT AGO1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZBTB7B XRCC3 RCOR1 CDC42BPB BAG5 RPL13P6
GH14G103853 1.5 Ensembl ENCODE dbSUPER 33.8 -139.9 -139912 3.3 PKNOX1 DMAP1 ZNF2 ZBTB7B GLIS2 ELK1 ZNF207 FOS ZNF548 SP3 XRCC3 ENSG00000202275 ENSG00000269958 ENSG00000260285 EXOC3L4 PPP1R13B LOC105370689
GH14G103204 2 FANTOM5 Ensembl ENCODE dbSUPER 23.2 +508.2 508152 6.0 PKNOX1 ARNT ZNF133 GLI4 BRCA1 TCF12 CBX5 GATA2 ZNF416 GTF2B XRCC3 CDC42BPB BAG5 RCOR1 LINC00605 TNFAIP2 ENSG00000269940 EXOC3L4 ENSG00000270705 GC14M103156
GH14G104391 1.4 FANTOM5 Ensembl ENCODE 27.9 -677.5 -677535 3.5 KLF1 SUZ12 SALL2 YBX1 PLRG1 BCL11B ZBTB7B CTBP1 ZFHX2 ZNF366 XRCC3 ZFYVE21 TRMT61A PACS2 LINC00638 CKB RNU6-684P GC14M104401 ENSG00000258598
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around XRCC3 on UCSC Golden Path with GeneCards custom track

Promoters for XRCC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000073605 -296 2401 HDGF PKNOX1 ARID4B SIN3A ZBTB7B ZNF143 FOS ZNF263 SP3 CEBPZ

Genomic Location for XRCC3 Gene

Chromosome:
14
Start:
103,697,608 bp from pter
End:
103,715,504 bp from pter
Size:
17,897 bases
Orientation:
Minus strand

Genomic View for XRCC3 Gene

Genes around XRCC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XRCC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XRCC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XRCC3 Gene

Proteins for XRCC3 Gene

  • Protein details for XRCC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43542-XRCC3_HUMAN
    Recommended name:
    DNA repair protein XRCC3
    Protein Accession:
    O43542
    Secondary Accessions:
    • O43568
    • Q9BU18

    Protein attributes for XRCC3 Gene

    Size:
    346 amino acids
    Molecular mass:
    37850 Da
    Quaternary structure:
    • Interacts with RAD51C and RAD51. Part of the CX3 complex consisting of RAD51C and XRCC3; the complex has a ring-like structure arranged into a flat disc around a central channel; CX3 can interact with RAD51 in vitro. Forms a complex with FANCD2, BRCA2 and phosphorylated FANCG. Interacts with SWSAP1 and ZSWIM7; involved in homologous recombination repair. Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3.

neXtProt entry for XRCC3 Gene

Post-translational modifications for XRCC3 Gene

  • Ubiquitination at Lys172
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for XRCC3 Gene

Domains & Families for XRCC3 Gene

Graphical View of Domain Structure for InterPro Entry

O43542

UniProtKB/Swiss-Prot:

XRCC3_HUMAN :
  • Belongs to the RecA family. RAD51 subfamily.
Family:
  • Belongs to the RecA family. RAD51 subfamily.
genes like me logo Genes that share domains with XRCC3: view

No data available for Gene Families for XRCC3 Gene

Function for XRCC3 Gene

Molecular function for XRCC3 Gene

GENATLAS Biochemistry:
repair X-ray defect,complementing defect in CHO cells,3,involved in recombinational repair,interacting with RAD51 for maintenance of genomic integrity
UniProtKB/Swiss-Prot Function:
Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD21 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C.
UniProtKB/Swiss-Prot Induction:
Stress-induced increase in the mitochondrial levels is seen.

Gene Ontology (GO) - Molecular Function for XRCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000150 recombinase activity IBA --
GO:0000166 nucleotide binding IEA --
GO:0000400 contributes_to four-way junction DNA binding IDA 20207730
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IBA --
genes like me logo Genes that share ontologies with XRCC3: view
genes like me logo Genes that share phenotypes with XRCC3: view

Animal Models for XRCC3 Gene

MGI Knock Outs for XRCC3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for XRCC3 Gene

Localization for XRCC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XRCC3 Gene

Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Mitochondrion. Note=Accumulates in discrete nuclear foci prior to DNA damage, and these foci persist throughout the time course of DNA repair.

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 XRCC3 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for XRCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IC 15507207
GO:0005634 nucleus IDA 16215984
GO:0005654 nucleoplasm TAS --
GO:0005657 replication fork IDA 20207730
GO:0005737 cytoplasm IDA,IEA 16215984
genes like me logo Genes that share ontologies with XRCC3: view

Pathways & Interactions for XRCC3 Gene

genes like me logo Genes that share pathways with XRCC3: view

Gene Ontology (GO) - Biological Process for XRCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000707 meiotic DNA recombinase assembly IBA --
GO:0000722 telomere maintenance via recombination IMP 15507207
GO:0000724 double-strand break repair via homologous recombination IMP 23149936
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
genes like me logo Genes that share ontologies with XRCC3: view

No data available for SIGNOR curated interactions for XRCC3 Gene

Drugs & Compounds for XRCC3 Gene

(12) Drugs for XRCC3 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1967
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1856
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1123
leucovorin Approved Nutra 3235,1128
Platinum compounds Pharma 0

(4) Additional Compounds for XRCC3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with XRCC3: view

Transcripts for XRCC3 Gene

Unigene Clusters for XRCC3 Gene

X-ray repair complementing defective repair in Chinese hamster cells 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for XRCC3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - - - - - - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - -
SP9: - - - - - -
SP10: - -
SP11: - - - -
SP12: - - - -
SP13:

Relevant External Links for XRCC3 Gene

GeneLoc Exon Structure for
XRCC3
ECgene alternative splicing isoforms for
XRCC3

Expression for XRCC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for XRCC3 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for XRCC3 Gene



Protein tissue co-expression partners for XRCC3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of XRCC3 Gene:

XRCC3

SOURCE GeneReport for Unigene cluster for XRCC3 Gene:

Hs.592325

Evidence on tissue expression from TISSUES for XRCC3 Gene

  • Muscle(4.1)
  • Blood(2.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with XRCC3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for XRCC3 Gene

Orthologs for XRCC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XRCC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XRCC3 35 34
  • 99.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia XRCC3 35 34
  • 82.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia XRCC3 35 34
  • 79.09 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102551085 34
  • 77.52 (n)
mouse
(Mus musculus)
Mammalia Xrcc3 16 35 34
  • 76.97 (n)
oppossum
(Monodelphis domestica)
Mammalia XRCC3 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XRCC3 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves XRCC3 35 34
  • 62.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XRCC3 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xrcc3 34
  • 58.41 (n)
zebrafish
(Danio rerio)
Actinopterygii xrcc3 34 35
  • 57.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta spn-B 34 35
  • 47.06 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013180 34
  • 45.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD57 35
  • 15 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons XRCC3 34
  • 43.7 (n)
rice
(Oryza sativa)
Liliopsida Os02g0562100 34
  • 49.44 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01771 34
  • 48.35 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rhp57 34
  • 38.51 (n)
Species where no ortholog for XRCC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for XRCC3 Gene

ENSEMBL:
Gene Tree for XRCC3 (if available)
TreeFam:
Gene Tree for XRCC3 (if available)

Paralogs for XRCC3 Gene

No data available for Paralogs for XRCC3 Gene

Variants for XRCC3 Gene

Sequence variations from dbSNP and Humsavar for XRCC3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs861539 other, Melanoma, cutaneous malignant 6 (CMM6) [MIM:613972] 103,699,416(-) GGCCA(C/T)GCTGC intron-variant, reference, missense
rs1000105326 -- 103,698,087(+) GCCTG(C/T)GCTCC intron-variant, utr-variant-3-prime
rs1000173903 -- 103,697,623(+) GCATC(C/T)ATTGA intron-variant, utr-variant-3-prime
rs1000291275 -- 103,714,925(+) GTGAT(C/T)CGCCC intron-variant, upstream-variant-2KB
rs1000406236 -- 103,714,612(+) TCTCA(A/T)AAAAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for XRCC3 Gene

Variant ID Type Subtype PubMed ID
esv2749175 CNV deletion 23290073
esv2760013 CNV loss 17122850
esv3635603 CNV gain 21293372
nsv1054574 CNV loss 25217958
nsv470673 CNV loss 18288195
nsv527425 CNV loss 19592680
nsv566023 CNV loss 21841781
nsv827071 CNV gain 20364138
nsv9171 CNV gain 18304495
nsv952260 CNV deletion 24416366

Variation tolerance for XRCC3 Gene

Residual Variation Intolerance Score: 75.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.18; 75.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XRCC3 Gene

Human Gene Mutation Database (HGMD)
XRCC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XRCC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XRCC3 Gene

Disorders for XRCC3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for XRCC3 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
melanoma, cutaneous malignant, 6
  • cmm6
breast cancer
  • breast cancer, invasive ductal
breast cancer susceptibility, xrcc3-related
xeroderma pigmentosum, variant type
  • de sanctis-cacchione syndrome
cardiomyopathy, hypertrophic, 15
  • hypertrophic cardiomyopathy 15
- elite association - COSMIC cancer census association via MalaCards
Search XRCC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XRCC3_HUMAN
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:12023982}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Melanoma, cutaneous malignant 6 (CMM6) [MIM:613972]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. {ECO:0000269 PubMed:11059748}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for XRCC3

Genetic Association Database (GAD)
XRCC3
Human Genome Epidemiology (HuGE) Navigator
XRCC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XRCC3
genes like me logo Genes that share disorders with XRCC3: view

No data available for Genatlas for XRCC3 Gene

Publications for XRCC3 Gene

  1. Variants in DNA double-strand break repair genes and breast cancer susceptibility. (PMID: 12023982) Kuschel B. … Dunning A. (Hum. Mol. Genet. 2002) 3 4 22 46 64
  2. A meta-analysis on XRCC1 and XRCC3 polymorphisms and colorectal cancer risk. (PMID: 19915856) Jiang Z. … Cai S. (Int J Colorectal Dis 2010) 3 22 46 64
  3. Bladder cancer and polymorphisms of DNA repair genes (XRCC1, XRCC3, XPD, XPG, APE1, hOGG1). (PMID: 19414392) Narter K.F. … Isbir T. (Anticancer Res. 2009) 3 22 46 64
  4. Chromosomal aberrations in railroad transit workers: effect of genetic polymorphisms. (PMID: 19177501) CatalA!n J. … Norppa H. (Environ. Mol. Mutagen. 2009) 3 22 46 64
  5. XRCC3 haplotypes and risk of gliomas in a Chinese population: a hospital-based case-control study. (PMID: 19330829) Zhou K. … Zhou L. (Int. J. Cancer 2009) 3 22 46 64

Products for XRCC3 Gene

Sources for XRCC3 Gene

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