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Aliases for XRCC5 Gene

Aliases for XRCC5 Gene

  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 5 (Double-Strand-Break Rejoining) 2 3 4
  • ATP-Dependent DNA Helicase II 80 KDa Subunit 3 4
  • ATP-Dependent DNA Helicase 2 Subunit 2 3 4
  • CTC Box-Binding Factor 85 KDa Subunit 3 4
  • Lupus Ku Autoantigen Protein P86 3 4
  • 86 KDa Subunit Of Ku Antigen 3 4
  • Thyroid-Lupus Autoantigen 3 4
  • DNA Repair Protein XRCC5 3 4
  • Nuclear Factor IV 3 4
  • CTC85 3 4
  • CTCBF 3 4
  • KU80 3 4
  • Ku86 3 4
  • TLAA 3 4
  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 5 (Double-Strand-Break Rejoining; Ku Autoantigen, 80kD) 2
  • Ku86 Autoantigen Related Protein 1 3
  • Ku Autoantigen, 80kDa 3
  • Ku Autoantigen 2
  • EC 3.6.4.- 4
  • KARP-1 3
  • 80kDa 2
  • KARP1 3
  • G22P2 4
  • KUB2 3
  • NFIV 3

External Ids for XRCC5 Gene

Previous GeneCards Identifiers for XRCC5 Gene

  • GC02P215135
  • GC02P215696
  • GC02P216938
  • GC02P217174
  • GC02P217152
  • GC02P216797
  • GC02P216680
  • GC02P216972
  • GC02P208831

Summaries for XRCC5 Gene

Entrez Gene Summary for XRCC5 Gene

  • The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]

GeneCards Summary for XRCC5 Gene

XRCC5 (X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 5 (Double-Strand-Break Rejoining)) is a Protein Coding gene. Diseases associated with XRCC5 include alpha-thalassemia/mental retardation syndrome and dna ligase iv deficiency. Among its related pathways are Immune System and Infectious disease. GO annotations related to this gene include poly(A) RNA binding and transcription regulatory region DNA binding.

UniProtKB/Swiss-Prot for XRCC5 Gene

  • Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3-5 direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. In association with NAA15, the XRCC5/6 dimer binds to the osteocalcin promoter and activates osteocalcin expression. The XRCC5/6 dimer probably also acts as a 5-deoxyribose-5-phosphate lyase (5-dRP lyase), by catalyzing the beta-elimination of the 5 deoxyribose-5-phosphate at an abasic site near double-strand breaks. XRCC5 probably acts as the catalytic subunit of 5-dRP activity, and allows to clean the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription.

Gene Wiki entry for XRCC5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XRCC5 Gene

Genomics for XRCC5 Gene

Regulatory Elements for XRCC5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for XRCC5 Gene

Chromosome:
2
Start:
216,107,464 bp from pter
End:
216,206,303 bp from pter
Size:
98,840 bases
Orientation:
Plus strand

Genomic View for XRCC5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for XRCC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XRCC5 Gene

Proteins for XRCC5 Gene

  • Protein details for XRCC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13010-XRCC5_HUMAN
    Recommended name:
    X-ray repair cross-complementing protein 5
    Protein Accession:
    P13010
    Secondary Accessions:
    • A8K3X5
    • Q0Z7V0
    • Q4VBQ5
    • Q53HH7
    • Q7M4N0
    • Q9UCQ0
    • Q9UCQ1

    Protein attributes for XRCC5 Gene

    Size:
    732 amino acids
    Molecular mass:
    82705 Da
    Quaternary structure:
    • Heterodimer of a 70 kDa and a 80 kDa subunit. The dimer associates in a DNA-dependent manner with PRKDC to form the DNA-dependent protein kinase complex DNA-PK, and with the LIG4-XRCC4 complex. The dimer also associates with NAA15, and this complex displays DNA binding activity towards the osteocalcin FGF response element (OCFRE). In addition, the 80 kDa subunit binds to the osteoblast-specific transcription factors MSX2 and RUNX2. Interacts with ELF3. May interact with APLF. The XRCC5/6 dimer associates in a DNA-dependent manner with APEX1. Identified in a complex with DEAF1 and XRCC6. Interacts with C9orf142/PAXX (PubMed:25574025). Interacts with NR4A3; the DNA-dependent protein kinase complex DNA-PK phosphorylates and activates NR4A3 and prevents NR4A3 ubiquitinylation and degradation (PubMed:25852083).
    Miscellaneous:
    • Individuals with systemic lupus erythematosus (SLE) and related disorders produce extremely large amounts of autoantibodies to XRCC6 and XRCC5

    Three dimensional structures from OCA and Proteopedia for XRCC5 Gene

neXtProt entry for XRCC5 Gene

Proteomics data for XRCC5 Gene at MOPED

Post-translational modifications for XRCC5 Gene

  • Phosphorylated on serine residues. Phosphorylation by PRKDC may enhance helicase activity.
  • Sumoylated.
  • Ubiquitinated by RNF8 via Lys-48-linked ubiquitination following DNA damage, leading to its degradation and removal from DNA damage sites.
  • Ubiquitination at Lys 36, Lys 144, Lys 195, Lys 202, Lys 282, Lys 307, Lys 325, Lys 338, Lys 347, Lys 363, Lys 439, Lys 443, Lys 481, Lys 532, Lys 543, Lys 648, and Lys 660
  • Modification sites at PhosphoSitePlus

Other Protein References for XRCC5 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for XRCC5 (Ku80)

No data available for DME Specific Peptides for XRCC5 Gene

Domains & Families for XRCC5 Gene

Protein Domains for XRCC5 Gene

Graphical View of Domain Structure for InterPro Entry

P13010

UniProtKB/Swiss-Prot:

XRCC5_HUMAN :
  • The EEXXXDDL motif is required for the interaction with catalytic subunit PRKDC and its recruitment to sites of DNA damage.
  • Belongs to the ku80 family.
Domain:
  • The EEXXXDDL motif is required for the interaction with catalytic subunit PRKDC and its recruitment to sites of DNA damage.
  • Contains 1 Ku domain.
Family:
  • Belongs to the ku80 family.
genes like me logo Genes that share domains with XRCC5: view

No data available for Gene Families for XRCC5 Gene

Function for XRCC5 Gene

Molecular function for XRCC5 Gene

GENATLAS Biochemistry:
repair X-ray defect,complementing defect in CHO cells,5,involved in double-strand DNA break rejoining
UniProtKB/Swiss-Prot Function:
Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3-5 direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. In association with NAA15, the XRCC5/6 dimer binds to the osteocalcin promoter and activates osteocalcin expression. The XRCC5/6 dimer probably also acts as a 5-deoxyribose-5-phosphate lyase (5-dRP lyase), by catalyzing the beta-elimination of the 5 deoxyribose-5-phosphate at an abasic site near double-strand breaks. XRCC5 probably acts as the catalytic subunit of 5-dRP activity, and allows to clean the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription.
UniProtKB/Swiss-Prot Induction:
In osteoblasts, by FGF2

Enzyme Numbers (IUBMB) for XRCC5 Gene

Gene Ontology (GO) - Molecular Function for XRCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 1537839
GO:0003684 damaged DNA binding IBA --
GO:0003690 double-stranded DNA binding TAS 7957065
GO:0003691 contributes_to double-stranded telomeric DNA binding IDA 10409678
GO:0004003 ATP-dependent DNA helicase activity IEA --
genes like me logo Genes that share ontologies with XRCC5: view
genes like me logo Genes that share phenotypes with XRCC5: view

Animal Models for XRCC5 Gene

MGI Knock Outs for XRCC5:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for XRCC5

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for XRCC5 Gene

Localization for XRCC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XRCC5 Gene

Nucleus. Nucleus, nucleolus. Chromosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XRCC5 Gene COMPARTMENTS Subcellular localization image for XRCC5 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 4

Gene Ontology (GO) - Cellular Components for XRCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000783 nuclear telomere cap complex TAS 15100233
GO:0000784 nuclear chromosome, telomeric region IDA 10535943
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with XRCC5: view

Pathways & Interactions for XRCC5 Gene

genes like me logo Genes that share pathways with XRCC5: view

Pathways by source for XRCC5 Gene

2 Qiagen pathways for XRCC5 Gene
2 Cell Signaling Technology pathways for XRCC5 Gene
1 KEGG pathway for XRCC5 Gene
1 GeneGo (Thomson Reuters) pathway for XRCC5 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for XRCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance TAS 15824061
GO:0006281 DNA repair TAS --
GO:0006302 double-strand break repair TAS --
GO:0006303 double-strand break repair via nonhomologous end joining TAS 15824061
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with XRCC5: view

No data available for SIGNOR curated interactions for XRCC5 Gene

Drugs & Compounds for XRCC5 Gene

(12) Drugs for XRCC5 Gene - From: NovoSeek, ApexBio, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, Immunomodulatory agents, TNF-alpha synthesis inhibitor 776
Bleomycin Approved Pharma 142
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1525
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1127

(3) Additional Compounds for XRCC5 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NaCl
Oligonucleotide
P-350
genes like me logo Genes that share compounds with XRCC5: view

Transcripts for XRCC5 Gene

Unigene Clusters for XRCC5 Gene

X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for XRCC5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for XRCC5 Gene

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

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for XRCC5 Gene

GeneLoc Exon Structure for
XRCC5
ECgene alternative splicing isoforms for
XRCC5

Expression for XRCC5 Gene

mRNA expression in normal human tissues for XRCC5 Gene

Protein differential expression in normal tissues from HIPED for XRCC5 Gene

This gene is overexpressed in Tlymphocyte (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for XRCC5 Gene



SOURCE GeneReport for Unigene cluster for XRCC5 Gene Hs.388739

genes like me logo Genes that share expression patterns with XRCC5: view

Protein tissue co-expression partners for XRCC5 Gene

- Elite partner

Primer Products

In Situ Assay 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 XRCC5 Gene

Orthologs for XRCC5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XRCC5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC531945 35
  • 87.3 (n)
  • 81.42 (a)
XRCC5 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XRCC5 35
  • 87.02 (n)
  • 82.51 (a)
XRCC5 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xrcc5 35
  • 83.81 (n)
  • 78.52 (a)
Xrcc5 16
Xrcc5 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia XRCC5 35
  • 99.77 (n)
  • 99.73 (a)
XRCC5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xrcc5 35
  • 83.58 (n)
  • 78.39 (a)
oppossum
(Monodelphis domestica)
Mammalia XRCC5 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XRCC5 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves XRCC5 35
  • 69.84 (n)
  • 66.76 (a)
XRCC5 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XRCC5 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xrcc5 35
  • 64.64 (n)
  • 63.62 (a)
African clawed frog
(Xenopus laevis)
Amphibia xrcc5-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.10281 35
LOC100331090 35
  • 62.02 (n)
  • 56.98 (a)
xrcc5 36
  • 56 (a)
OneToMany
xrcc5 36
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009910 35
  • 43.27 (n)
  • 31.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ku80 36
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons KU80 35
  • 45.29 (n)
  • 28.65 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00077 35
  • 46.03 (n)
  • 32.44 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pku80 35
  • 40.43 (n)
  • 24.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToOne
Species with no ortholog for XRCC5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 (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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for XRCC5 Gene

ENSEMBL:
Gene Tree for XRCC5 (if available)
TreeFam:
Gene Tree for XRCC5 (if available)

Paralogs for XRCC5 Gene

No data available for Paralogs for XRCC5 Gene

Variants for XRCC5 Gene

Sequence variations from dbSNP and Humsavar for XRCC5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs2440 -- 216,206,043(-) AAAGA(C/T)CGAAA utr-variant-3-prime
rs3834 -- 216,201,980(-) AGTAT(C/T)GTCTG intron-variant
rs3835 -- 216,201,914(-) AAAAG(C/T)TGGGC intron-variant
rs6941 -- 216,205,929(+) AAACT(A/C)AAAAA utr-variant-3-prime
rs14908 -- 216,205,329(+) ACCTG(A/G)AGGCR utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for XRCC5 Gene

Variant ID Type Subtype PubMed ID
nsv460096 CNV Loss 19166990
esv2721455 CNV Deletion 23290073
nsv3159 CNV Loss 18451855

Variation tolerance for XRCC5 Gene

Residual Variation Intolerance Score: 39.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XRCC5 Gene

HapMap Linkage Disequilibrium report
XRCC5
Human Gene Mutation Database (HGMD)
XRCC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XRCC5 Gene

Disorders for XRCC5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for XRCC5 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
alpha-thalassemia/mental retardation syndrome
  • atr-x syndrome
dna ligase iv deficiency
  • lig4 syndrome
werner syndrome
  • adult premature ageing syndrome
ataxia-telangiectasia
  • ataxia telangiectasia
systemic lupus erythematosus
  • lupus nephritis
- elite association
Search XRCC5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for XRCC5

Genetic Association Database (GAD)
XRCC5
Human Genome Epidemiology (HuGE) Navigator
XRCC5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XRCC5
genes like me logo Genes that share disorders with XRCC5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for XRCC5 Gene

Publications for XRCC5 Gene

  1. KARP-1 is induced by DNA damage in a p53- and ataxia telangiectasia mutated-dependent fashion. (PMID: 9636207) Myung K. … Hendrickson E.A. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 23 67
  2. KARP-1: a novel leucine zipper protein expressed from the Ku86 autoantigen locus is implicated in the control of DNA-dependent protein kinase activity. (PMID: 9214634) Myung K. … Hendrickson E.A. (EMBO J. 1997) 2 23 67
  3. Insulin-like growth factor binding protein-6 (IGFBP-6) interacts with DNA-end binding protein Ku80 to regulate cell fate. (PMID: 20188166) Iosef C. … Han V.K. (Cell. Signal. 2010) 23 67
  4. [Roles of phosphatidylinositol 3 kinase in silica-induced DNA double strand breaks damage repair in human embryo lung fibroblasts]. (PMID: 20465946) Liu H.F. … Ye M. (Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2010) 23 67
  5. Tracking Ku antigen levels in cell extracts with DNA containing abasic sites. (PMID: 19712689) Ilina E.S. … Lavrik O.I. (Mutat. Res. 2010) 23 67

Products for XRCC5 Gene

Sources for XRCC5 Gene

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