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... See more...

Aliases for XRCC5 Gene

Aliases for XRCC5 Gene

  • X-Ray Repair Cross Complementing 5 2 3 5
  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 5 (Double-Strand-Break Rejoining) 3 4
  • ATP-Dependent DNA Helicase II 80 KDa Subunit 3 4
  • X-Ray Repair Cross-Complementing Protein 5 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
  • Ku Autoantigen, 80kDa 2 3
  • Nuclear Factor IV 3 4
  • CTC85 3 4
  • CTCBF 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
  • EC 3.6.4.- 4
  • KARP-1 3
  • KARP1 3
  • G22P2 4
  • KU80 3
  • KUB2 3
  • NFIV 3
  • Ku80 4

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 Cross Complementing 5) is a Protein Coding gene. Diseases associated with XRCC5 include Werner Syndrome and Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked. Among its related pathways are Telomere Extension by Telomerase and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding. An important paralog of this gene is XRCC6.

UniProtKB/Swiss-Prot Summary 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 (PubMed:12145306, PubMed:20383123, PubMed:7957065, PubMed:8621488). 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 (PubMed:20383123). 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 (PubMed:8621488). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.

Gene Wiki entry for XRCC5 Gene

Additional gene information for XRCC5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for XRCC5 Gene

Genomics for XRCC5 Gene

GeneHancer (GH) Regulatory Elements for XRCC5 Gene

Promoters and enhancers for XRCC5 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 XRCC5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the XRCC5 gene promoter:
  • aMEF-2
  • C/EBPalpha
  • CUTL1
  • LCR-F1
  • MEF-2A
  • Nkx6-1
  • p300
  • p53
  • PPAR-alpha
  • Sp1

Genomic Locations for XRCC5 Gene

Genomic Locations for XRCC5 Gene
chr2:216,107,464-216,206,303
(GRCh38/hg38)
Size:
98,840 bases
Orientation:
Plus strand
chr2:216,972,187-217,071,026
(GRCh37/hg19)
Size:
98,840 bases
Orientation:
Plus strand

Genomic View for XRCC5 Gene

Genes around XRCC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XRCC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 composed of XRCC5/Ku80 and XRCC6/Ku70. 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 to form the core of the non-homologous end joining (NHEJ) complex (PubMed:25941166, PubMed:25670504, PubMed:11493912, PubMed:22442688). Additional components of the NHEJ complex include NHEJ1/XLF and PAXX (PubMed:25574025, PubMed:25941166, PubMed:25670504). The dimer also associates with NAA15, and this complex displays DNA binding activity towards the osteocalcin FGF response element (OCFRE) (PubMed:12145306). In addition, XRCC5 binds to the osteoblast-specific transcription factors MSX2 and RUNX2 (PubMed:12145306). Interacts with ELF3 (PubMed:15075319). May interact with APLF (PubMed:17353262, PubMed:17396150). The XRCC5/XRCC6 dimer associates in a DNA-dependent manner with APEX1 (PubMed:8621488). Identified in a complex with DEAF1 and XRCC6. Interacts with NR4A3; the DNA-dependent protein kinase complex DNA-PK phosphorylates and activates NR4A3 and prevents NR4A3 ubiquitinylation and degradation (PubMed:25852083). Interacts with RNF138 (PubMed:26502055). Interacts with CYREN isoform 1 (CYREN-1) and isoform 4 (CYREN-2) (PubMed:24610814, PubMed:28959974). Interacts (via N-terminus) with HSF1 (via N-terminus); this interaction is direct and prevents XRCC5/XRCC6 heterodimeric binding and non-homologous end joining (NHEJ) repair activities induced by ionizing radiation (IR) (PubMed:26359349). Interacts with DHX9; this interaction occurs in a RNA-dependent manner (PubMed:14704337). Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA (PubMed:28712728).
    • (Microbial infection) Interacts with human T-cell leukemia virus 1/HTLV-1 protein HBZ.
    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

Post-translational modifications for XRCC5 Gene

  • ADP-ribosylated by PARP3.
  • 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 (PubMed:22266820). Ubiquitinated by RNF138, leading to remove the Ku complex from DNA breaks (PubMed:26502055).
  • Ubiquitination at Lys36, Lys144, Lys195, Lys202, Lys265, Lys282, Lys307, Lys325, Lys332, Lys338, Lys347, Lys363, Lys439, Lys443, Lys481, Lys532, Lys534, Lys543, Lys648, and Lys660
  • Modification sites at PhosphoSitePlus

Other Protein References for XRCC5 Gene

Antibody Products

No data available for DME Specific Peptides for XRCC5 Gene

Domains & Families for XRCC5 Gene

Gene Families for XRCC5 Gene

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

Suggested Antigen Peptide Sequences for XRCC5 Gene

GenScript: Design optimal peptide antigens:
  • Ku86 autoantigen related protein 1 (O43594_HUMAN)
  • X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5_HUMAN)

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.
Family:
  • Belongs to the ku80 family.
genes like me logo Genes that share domains with XRCC5: view

Function for XRCC5 Gene

Molecular function for XRCC5 Gene

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 (PubMed:12145306, PubMed:20383123, PubMed:7957065, PubMed:8621488). 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 (PubMed:20383123). 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 (PubMed:8621488). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.
UniProtKB/Swiss-Prot Induction:
In osteoblasts, by FGF2.
GENATLAS Biochemistry:
repair X-ray defect,complementing defect in CHO cells,5,involved in double-strand DNA break rejoining

Enzyme Numbers (IUBMB) for XRCC5 Gene

Phenotypes From GWAS Catalog 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:0003678 DNA helicase activity TAS 7957065
GO:0003684 damaged DNA binding IEA --
GO:0003690 contributes_to double-stranded DNA binding TAS,IBA 21873635
GO:0003691 contributes_to double-stranded telomeric DNA binding IDA 10409678
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

CRISPR Products

Clone Products

  • Addgene plasmids for XRCC5

No data available for Human Phenotype Ontology , 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
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 XRCC5 gene
Compartment Confidence
nucleus 5
plasma membrane 4
extracellular 4
cytosol 4
mitochondrion 1
peroxisome 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

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,IBA 10535943
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IDA,TAS --
GO:0005654 nucleoplasm TAS --
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
  • DNA Repair Mechanisms
  • Telomere Extension by Telomerase
2 Cell Signaling Technology pathways for XRCC5 Gene
1 GeneTex pathway for XRCC5 Gene

SIGNOR curated interactions for XRCC5 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for XRCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IBA 21873635
GO:0002218 activation of innate immune response IDA 28712728
GO:0002376 immune system process IEA --
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IMP 19581589
genes like me logo Genes that share ontologies with XRCC5: view

Drugs & Compounds for XRCC5 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, TNF-alpha synthesis inhibitor, Immunomodulatory agents 631
Bleomycin Sulfate Pharma Chemotherapy agent, induces DNA strand break 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for XRCC5 Gene

Compound Action Cas Number
Bleomycin Sulfate Chemotherapy agent, induces DNA strand break 9041-93-4
genes like me logo Genes that share compounds with XRCC5: view

Transcripts for XRCC5 Gene

mRNA/cDNA for XRCC5 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for XRCC5

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for XRCC5 Gene



Protein tissue co-expression partners for XRCC5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of XRCC5 Gene:

XRCC5

SOURCE GeneReport for Unigene cluster for XRCC5 Gene:

Hs.388739

Evidence on tissue expression from TISSUES for XRCC5 Gene

  • Liver(4.9)
  • Nervous system(4.9)
  • Heart(4.6)
  • Bone(4.4)
  • Thyroid gland(4.4)
  • Skin(4.2)
  • Lung(4.1)
  • Blood(4)
  • Kidney(3.8)
  • Eye(3.6)
  • Intestine(3.6)
  • Pancreas(2.6)
  • Spleen(2.6)
  • Bone marrow(2.3)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with XRCC5: view

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 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
chimpanzee
(Pan troglodytes)
Mammalia XRCC5 33 32
  • 99.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC531945 32
  • 87.3 (n)
XRCC5 33
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XRCC5 33 32
  • 87.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Xrcc5 17 33 32
  • 83.81 (n)
rat
(Rattus norvegicus)
Mammalia Xrcc5 32
  • 83.58 (n)
oppossum
(Monodelphis domestica)
Mammalia XRCC5 33
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XRCC5 33
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves XRCC5 33 32
  • 69.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XRCC5 33
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xrcc5 32
  • 64.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia xrcc5-A-prov 32
zebrafish
(Danio rerio)
Actinopterygii LOC100331090 32
  • 62.02 (n)
xrcc5 33 33
  • 57 (a)
OneToMany
Dr.10281 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009910 32
  • 43.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ku80 33
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons KU80 32
  • 45.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00077 32
  • 46.03 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 43 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pku80 32
  • 40.43 (n)
Species where no ortholog for XRCC5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for XRCC5: view image

Paralogs for XRCC5 Gene

Paralogs for XRCC5 Gene

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

Variants for XRCC5 Gene

Sequence variations from dbSNP and Humsavar for XRCC5 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000023818 -- 216,159,369(+) G/A intron_variant
rs1000033714 -- 216,159,579(+) T/G intron_variant
rs1000101478 -- 216,125,173(+) A/G intron_variant
rs1000130253 -- 216,143,855(+) C/T intron_variant
rs1000132844 -- 216,137,682(+) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
esv2721455 CNV deletion 23290073
esv3594290 CNV loss 21293372
nsv1011506 CNV gain 25217958
nsv3159 CNV deletion 18451855
nsv460096 CNV loss 19166990
nsv472852 CNV novel sequence insertion 20440878
nsv584453 CNV loss 21841781
nsv979173 CNV duplication 23825009
nsv998837 CNV gain 25217958

Variation tolerance for XRCC5 Gene

Residual Variation Intolerance Score: 39.9% 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)

Additional Variant Information for XRCC5 Gene

Human Gene Mutation Database (HGMD)
XRCC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XRCC5

SNP Genotyping and Copy Number Assay Products

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

Disorders for XRCC5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for XRCC5 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
werner syndrome
  • wrn
alpha-thalassemia/mental retardation syndrome, x-linked
  • atrx
baller-gerold syndrome
  • bgs
lig4 syndrome
  • dna ligase iv deficiency
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
- elite association - COSMIC cancer census association via MalaCards
Search XRCC5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for XRCC5

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 XRCC5: view

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

Publications for XRCC5 Gene

  1. DNA-dependent protein kinase phosphorylation sites in Ku 70/80 heterodimer. (PMID: 10026262) Chan DW … Lees-Miller SP (Biochemistry 1999) 3 4 23 56
  2. KARP-1 is induced by DNA damage in a p53- and ataxia telangiectasia mutated-dependent fashion. (PMID: 9636207) Myung K … Hendrickson EA (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 23 56
  3. 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 EA (The EMBO journal 1997) 2 3 23 56
  4. Purification of the sequence-specific transcription factor CTCBF, involved in the control of human collagen IV genes: subunits with homology to Ku antigen. (PMID: 7882982) Genersch E … Pöschl E (The EMBO journal 1995) 3 4 23 56
  5. Regulation of DNA repair pathway choice in S and G2 phases by the NHEJ inhibitor CYREN. (PMID: 28959974) Arnoult N … Karlseder J (Nature 2017) 3 4 56

Products for XRCC5 Gene

Sources for XRCC5 Gene