Details for: XRCC4

Gene ID: 7518

Symbol: XRCC4

Ensembl ID: ENSG00000152422

Description: X-ray repair cross complementing 4

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 159.8892
    Cell Significance Index: -24.8700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 98.2482
    Cell Significance Index: -24.9200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 67.0474
    Cell Significance Index: -27.6200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 50.7791
    Cell Significance Index: -26.1200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.3714
    Cell Significance Index: -26.3500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.4145
    Cell Significance Index: -25.2200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.7511
    Cell Significance Index: -26.6400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.6161
    Cell Significance Index: -14.4800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.4009
    Cell Significance Index: -19.6600
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.7630
    Cell Significance Index: 28.2900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.5125
    Cell Significance Index: 149.6200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.2453
    Cell Significance Index: 69.8800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8950
    Cell Significance Index: 97.3500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8828
    Cell Significance Index: 175.2000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8624
    Cell Significance Index: 140.2600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.8100
    Cell Significance Index: 17.3200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.7878
    Cell Significance Index: 52.9800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7666
    Cell Significance Index: 46.0200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7319
    Cell Significance Index: 56.1700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5666
    Cell Significance Index: 7.7300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5662
    Cell Significance Index: 21.4400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4930
    Cell Significance Index: 98.8900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4152
    Cell Significance Index: 287.1400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4022
    Cell Significance Index: 11.2400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3827
    Cell Significance Index: 10.2200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3446
    Cell Significance Index: 123.6000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3277
    Cell Significance Index: 8.7800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2575
    Cell Significance Index: 49.0000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2216
    Cell Significance Index: 4.8000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2183
    Cell Significance Index: 15.1000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2138
    Cell Significance Index: 9.6900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1760
    Cell Significance Index: 31.7400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1737
    Cell Significance Index: 94.8500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1560
    Cell Significance Index: 4.5000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1510
    Cell Significance Index: 18.5700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1408
    Cell Significance Index: 62.2500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.1128
    Cell Significance Index: 0.9200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0866
    Cell Significance Index: 3.8300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0623
    Cell Significance Index: 117.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0601
    Cell Significance Index: 110.8500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0514
    Cell Significance Index: 3.1600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0440
    Cell Significance Index: 67.6900
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.0386
    Cell Significance Index: 0.2400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0376
    Cell Significance Index: 4.4300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0317
    Cell Significance Index: 4.3500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0285
    Cell Significance Index: 18.1300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0233
    Cell Significance Index: 0.8200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0161
    Cell Significance Index: 2.0600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0115
    Cell Significance Index: 15.6900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0091
    Cell Significance Index: 4.1400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0010
    Cell Significance Index: 0.0200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0004
    Cell Significance Index: 0.0200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0214
    Cell Significance Index: -15.6600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0319
    Cell Significance Index: -24.1200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0341
    Cell Significance Index: -25.2600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0475
    Cell Significance Index: -26.8000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0512
    Cell Significance Index: -31.9500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0643
    Cell Significance Index: -3.0000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0726
    Cell Significance Index: -7.4200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0753
    Cell Significance Index: -10.9400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0773
    Cell Significance Index: -22.2400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0785
    Cell Significance Index: -5.5500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0819
    Cell Significance Index: -9.5400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0895
    Cell Significance Index: -15.2800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0934
    Cell Significance Index: -1.6000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0962
    Cell Significance Index: -6.2100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1498
    Cell Significance Index: -31.5600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1612
    Cell Significance Index: -20.8300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1704
    Cell Significance Index: -3.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1852
    Cell Significance Index: -21.2100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2213
    Cell Significance Index: -10.4000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2230
    Cell Significance Index: -23.2200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2245
    Cell Significance Index: -5.7700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2386
    Cell Significance Index: -8.2900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2397
    Cell Significance Index: -6.8400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2576
    Cell Significance Index: -6.4400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2693
    Cell Significance Index: -20.0700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2737
    Cell Significance Index: -21.6800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2813
    Cell Significance Index: -17.7300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2851
    Cell Significance Index: -9.1300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2967
    Cell Significance Index: -4.3800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3752
    Cell Significance Index: -19.7000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3928
    Cell Significance Index: -5.6400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4203
    Cell Significance Index: -11.4400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4350
    Cell Significance Index: -6.2300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4386
    Cell Significance Index: -26.8900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4987
    Cell Significance Index: -12.7400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.5256
    Cell Significance Index: -12.6100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5476
    Cell Significance Index: -17.9300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.5506
    Cell Significance Index: -8.2500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5787
    Cell Significance Index: -18.4300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.5918
    Cell Significance Index: -7.3800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6134
    Cell Significance Index: -16.1300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6143
    Cell Significance Index: -21.5200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.6224
    Cell Significance Index: -31.4500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.6229
    Cell Significance Index: -13.6400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6554
    Cell Significance Index: -24.0600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6753
    Cell Significance Index: -19.8900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.6803
    Cell Significance Index: -14.2400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.6932
    Cell Significance Index: -9.9700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Function:** XRCC4 is a scaffold protein that facilitates the recruitment of DNA ligase IV and other NHEJ machinery to the site of DSBs, enabling the repair of DNA breaks. 2. **Expression:** XRCC4 is widely expressed in various cell types, including GABAergic neurons, mural cells, germ cells, cardiac muscle myoblasts, and immune cells. 3. **Structural features:** XRCC4 contains an FHA (forkhead-associated) domain, which is essential for its interaction with DNA damage response proteins and other NHEJ components. 4. **Evolutionary conservation:** XRCC4 is conserved across species, indicating its fundamental importance in maintaining genomic integrity. **Pathways and Functions:** 1. **Non-homologous end joining (NHEJ):** XRCC4 is a critical component of the NHEJ pathway, which is responsible for repairing DSBs in DNA. XRCC4 facilitates the recruitment of DNA ligase IV and other NHEJ machinery to the site of DSBs, enabling the repair of DNA breaks. 2. **DNA-dependent protein kinase-dna ligase 4 complex:** XRCC4 interacts with DNA-dependent protein kinase (DNA-PK) and DNA ligase IV to form a complex that is essential for NHEJ. 3. **Double-strand break repair:** XRCC4 is involved in the repair of DSBs in DNA, which is essential for maintaining genomic stability and preventing mutations. 4. **Viral infection pathways:** XRCC4 is also involved in the replication cycle of certain viruses, such as HIV, where it plays a role in the integration of proviruses into the host genome. **Clinical Significance:** 1. **Cancer susceptibility:** Mutations in XRCC4 have been associated with an increased risk of cancer, particularly in individuals with Fanconi anemia, a rare genetic disorder characterized by bone marrow failure and increased cancer risk. 2. **Genomic instability:** XRCC4 deficiency can lead to genomic instability, which can result in mutations, chromosomal rearrangements, and increased cancer risk. 3. **Radiosensitivity:** XRCC4 plays a critical role in the repair of DNA damage caused by ionizing radiation, and its deficiency can lead to increased radiosensitivity and increased risk of cancer. 4. **Infectious disease:** XRCC4 is also involved in the replication cycle of certain viruses, such as HIV, where it plays a role in the integration of proviruses into the host genome. In conclusion, XRCC4 is a critical gene involved in the repair of double-strand breaks in DNA and plays a vital role in maintaining genomic stability and preventing mutations. Its dysfunction can lead to increased cancer risk, genomic instability, and increased radiosensitivity, highlighting the importance of XRCC4 in human health and disease.

Genular Protein ID: 868935120

Symbol: XRCC4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q13426 A8K3X4 Q9BS72 Q9UP94

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 1 ELM 1 EMBL 22 EMDB 14 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 27 PDBsum 27 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 3 RefSeq 6 SASBDB 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8548796

Title: The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination.

PubMed ID: 8548796

DOI: 10.1016/0092-8674(95)90135-3

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9259561

Title: Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV.

PubMed ID: 9259561

DOI: 10.1016/s0960-9822(06)00258-2

PubMed ID: 9430729

Title: The XRCC4 gene product is a target for and interacts with the DNA-dependent protein kinase.

PubMed ID: 9430729

DOI: 10.1074/jbc.273.3.1794

PubMed ID: 15177042

Title: Identification of DNA-PKcs phosphorylation sites in XRCC4 and effects of mutations at these sites on DNA end joining in a cell-free system.

PubMed ID: 15177042

DOI: 10.1016/j.dnarep.2003.11.005

PubMed ID: 9242410

Title: Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells.

PubMed ID: 9242410

DOI: 10.1038/41358

PubMed ID: 10922471

Title: Cleavage and phosphorylation of XRCC4 protein induced by X-irradiation.

PubMed ID: 10922471

DOI: 10.1016/s0014-5793(00)01800-7

PubMed ID: 10854421

Title: Interactions of the DNA ligase IV-XRCC4 complex with DNA ends and the DNA-dependent protein kinase.

PubMed ID: 10854421

DOI: 10.1074/jbc.m000491200

PubMed ID: 10757784

Title: Ku recruits the XRCC4-ligase IV complex to DNA ends.

PubMed ID: 10757784

DOI: 10.1128/mcb.20.9.2996-3003.2000

PubMed ID: 12509254

Title: Defining interactions between DNA-PK and ligase IV/XRCC4.

PubMed ID: 12509254

DOI: 10.1016/s1568-7864(01)00018-0

PubMed ID: 12517771

Title: Requirement for XRCC4 and DNA ligase IV in alignment-based gap filling for nonhomologous DNA end joining in vitro.

PubMed ID: 12517771

PubMed ID: 14599745

Title: DNA-PK phosphorylation sites in XRCC4 are not required for survival after radiation or for V(D)J recombination.

PubMed ID: 14599745

DOI: 10.1016/s1568-7864(03)00143-5

PubMed ID: 12547193

Title: Coordinated assembly of Ku and p460 subunits of the DNA-dependent protein kinase on DNA ends is necessary for XRCC4-ligase IV recruitment.

PubMed ID: 12547193

DOI: 10.1016/s0022-2836(02)01328-1

PubMed ID: 15380105

Title: The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.

PubMed ID: 15380105

DOI: 10.1016/j.dnarep.2004.06.017

PubMed ID: 15385968

Title: Xrcc4 physically links DNA end processing by polynucleotide kinase to DNA ligation by DNA ligase IV.

PubMed ID: 15385968

DOI: 10.1038/sj.emboj.7600375

PubMed ID: 16412978

Title: Monoubiquitination of the nonhomologous end joining protein XRCC4.

PubMed ID: 16412978

DOI: 10.1016/j.bbrc.2005.12.166

PubMed ID: 16439205

Title: XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining.

PubMed ID: 16439205

DOI: 10.1016/j.cell.2005.12.031

PubMed ID: 17124166

Title: Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4.

PubMed ID: 17124166

DOI: 10.1073/pnas.0609061103

PubMed ID: 16478998

Title: SUMO modification of human XRCC4 regulates its localization and function in DNA double-strand break repair.

PubMed ID: 16478998

DOI: 10.1128/mcb.26.5.1786-1794.2006

PubMed ID: 17290226

Title: XRCC4:DNA ligase IV can ligate incompatible DNA ends and can ligate across gaps.

PubMed ID: 17290226

DOI: 10.1038/sj.emboj.7601559

PubMed ID: 18158905

Title: Crystal structure of human XLF: a twist in nonhomologous DNA end-joining.

PubMed ID: 18158905

DOI: 10.1016/j.molcel.2007.10.024

PubMed ID: 17396150

Title: A novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses.

PubMed ID: 17396150

DOI: 10.1038/sj.emboj.7601663

PubMed ID: 17353262

Title: APLF (C2orf13) is a novel human protein involved in the cellular response to chromosomal DNA strand breaks.

PubMed ID: 17353262

DOI: 10.1128/mcb.02269-06

PubMed ID: 18077224

Title: APLF (C2orf13) facilitates nonhomologous end-joining and undergoes ATM-dependent hyperphosphorylation following ionizing radiation.

PubMed ID: 18077224

DOI: 10.1016/j.dnarep.2007.10.008

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19837014

Title: Electron microscopy of Xrcc4 and the DNA ligase IV-Xrcc4 DNA repair complex.

PubMed ID: 19837014

DOI: 10.1016/j.dnarep.2009.09.007

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20558749

Title: Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.

PubMed ID: 20558749

DOI: 10.1074/jbc.m110.138156

PubMed ID: 20852255

Title: Dual modes of interaction between XRCC4 and polynucleotide kinase/phosphatase: implications for nonhomologous end joining.

PubMed ID: 20852255

DOI: 10.1074/jbc.m109.058719

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 22102241

Title: Crystallization and preliminary X-ray diffraction analysis of the human XRCC4-XLF complex.

PubMed ID: 22102241

DOI: 10.1107/s1744309111033549

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21982441

Title: XRCC4 controls nuclear import and distribution of Ligase IV and exchanges faster at damaged DNA in complex with Ligase IV.

PubMed ID: 21982441

DOI: 10.1016/j.dnarep.2011.09.012

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22228831

Title: XRCC4's interaction with XLF is required for coding (but not signal) end joining.

PubMed ID: 22228831

DOI: 10.1093/nar/gkr1315

PubMed ID: 22658747

Title: Structural insights into the role of domain flexibility in human DNA ligase IV.

PubMed ID: 22658747

DOI: 10.1016/j.str.2012.04.012

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24984242

Title: DNA Ligase IV regulates XRCC4 nuclear localization.

PubMed ID: 24984242

DOI: 10.1016/j.dnarep.2014.05.010

PubMed ID: 24389050

Title: Genomic analysis of primordial dwarfism reveals novel disease genes.

PubMed ID: 24389050

DOI: 10.1101/gr.160572.113

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25597996

Title: Asparagine 326 in the extremely C-terminal region of XRCC4 is essential for the cell survival after irradiation.

PubMed ID: 25597996

DOI: 10.1016/j.bbrc.2015.01.015

PubMed ID: 25934149

Title: Lysine 271 but not lysine 210 of XRCC4 is required for the nuclear localization of XRCC4 and DNA ligase IV.

PubMed ID: 25934149

DOI: 10.1016/j.bbrc.2015.04.093

PubMed ID: 25941166

Title: XLS (c9orf142) is a new component of mammalian DNA double-stranded break repair.

PubMed ID: 25941166

DOI: 10.1038/cdd.2015.22

PubMed ID: 26100018

Title: XRCC4/XLF interaction is variably required for DNA repair and is not required for ligase IV stimulation.

PubMed ID: 26100018

DOI: 10.1128/mcb.01503-14

PubMed ID: 25670504

Title: Interactome analysis identifies a new paralogue of XRCC4 in non-homologous end joining DNA repair pathway.

PubMed ID: 25670504

DOI: 10.1038/ncomms7233

PubMed ID: 25574025

Title: DNA repair. PAXX, a paralog of XRCC4 and XLF, interacts with Ku to promote DNA double-strand break repair.

PubMed ID: 25574025

DOI: 10.1126/science.1261971

PubMed ID: 26666690

Title: In cellulo phosphorylation of XRCC4 Ser320 by DNA-PK induced by DNA damage.

PubMed ID: 26666690

DOI: 10.1093/jrr/rrv086

PubMed ID: 26774286

Title: FBXW7 facilitates nonhomologous end-joining via K63-linked polyubiquitylation of XRCC4.

PubMed ID: 26774286

DOI: 10.1016/j.molcel.2015.12.010

PubMed ID: 27437582

Title: Sliding sleeves of XRCC4-XLF bridge DNA and connect fragments of broken DNA.

PubMed ID: 27437582

DOI: 10.1038/nature18643

PubMed ID: 28500754

Title: Mutational phospho-mimicry reveals a regulatory role for the XRCC4 and XLF C-terminal tails in modulating DNA bridging during classical non-homologous end joining.

PubMed ID: 28500754

DOI: 10.7554/elife.22900

PubMed ID: 28453785

Title: Structural and functional characterization of the PNKP-XRCC4-LigIV DNA repair complex.

PubMed ID: 28453785

DOI: 10.1093/nar/gkx275

PubMed ID: 30247612

Title: In cellulo phosphorylation of DNA double-strand break repair protein XRCC4 on Ser260 by DNA-PK.

PubMed ID: 30247612

DOI: 10.1093/jrr/rry072

PubMed ID: 30250067

Title: PAXX and its paralogs synergistically direct DNA polymerase lambda activity in DNA repair.

PubMed ID: 30250067

DOI: 10.1038/s41467-018-06127-y

PubMed ID: 33725486

Title: Caspase cleavage releases a nuclear protein fragment that stimulates phospholipid scrambling at the plasma membrane.

PubMed ID: 33725486

DOI: 10.1016/j.molcel.2021.02.025

PubMed ID: 11080143

Title: Crystal structure of the Xrcc4 DNA repair protein and implications for end joining.

PubMed ID: 11080143

DOI: 10.1093/emboj/19.22.5962

PubMed ID: 11702069

Title: Crystal structure of an Xrcc4-DNA ligase IV complex.

PubMed ID: 11702069

DOI: 10.1038/nsb725

PubMed ID: 14607114

Title: Tetramerization and DNA ligase IV interaction of the DNA double-strand break repair protein XRCC4 are mutually exclusive.

PubMed ID: 14607114

DOI: 10.1016/j.jmb.2003.09.031

PubMed ID: 19332554

Title: Structural and functional interaction between the human DNA repair proteins DNA ligase IV and XRCC4.

PubMed ID: 19332554

DOI: 10.1128/mcb.01895-08

PubMed ID: 21936820

Title: Non-homologous end-joining partners in a helical dance: structural studies of XLF-XRCC4 interactions.

PubMed ID: 21936820

DOI: 10.1042/bst0391387

PubMed ID: 21775435

Title: XRCC4 protein interactions with XRCC4-like factor (XLF) create an extended grooved scaffold for DNA ligation and double strand break repair.

PubMed ID: 21775435

DOI: 10.1074/jbc.m111.272641

PubMed ID: 22287571

Title: A human XRCC4-XLF complex bridges DNA.

PubMed ID: 22287571

DOI: 10.1093/nar/gks022

PubMed ID: 21768349

Title: Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining.

PubMed ID: 21768349

DOI: 10.1073/pnas.1100758108

PubMed ID: 31548606

Title: The nucleoskeleton protein IFFO1 immobilizes broken DNA and suppresses chromosome translocation during tumorigenesis.

PubMed ID: 31548606

DOI: 10.1038/s41556-019-0388-0

PubMed ID: 34352203

Title: Cryo-EM of NHEJ supercomplexes provides insights into DNA repair.

PubMed ID: 34352203

DOI: 10.1016/j.molcel.2021.07.005

PubMed ID: 33854234

Title: Structural basis of long-range to short-range synaptic transition in NHEJ.

PubMed ID: 33854234

DOI: 10.1038/s41586-021-03458-7

PubMed ID: 25728776

Title: Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

PubMed ID: 25728776

DOI: 10.1016/j.ajhg.2015.01.013

PubMed ID: 25872942

Title: A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.

PubMed ID: 25872942

DOI: 10.15252/emmm.201404803

PubMed ID: 25839420

Title: Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

PubMed ID: 25839420

DOI: 10.1093/hmg/ddv115

PubMed ID: 26255102

Title: XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

PubMed ID: 26255102

DOI: 10.1016/j.jaci.2015.06.007

PubMed ID: 25742519

Title: An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

PubMed ID: 25742519

DOI: 10.1210/jc.2015-1098

PubMed ID: 32524007

Title: Novel XRCC4 mutations in an infant with microcephalic primordial dwarfism, dilated cardiomyopathy, subclinical hypothyroidism, and early death: expanding the phenotype of XRCC4 mutations.

PubMed ID: 32524007

DOI: 10.4158/accr-2019-0283

Sequence Information:

  • Length: 336
  • Mass: 38287
  • Checksum: BE5FB99153479A4E
  • Sequence:
    • MERKISRIHL VSEPSITHFL QVSWEKTLES GFVITLTDGH SAWTGTVSES EISQEADDMA 
MEKGKYVGEL RKALLSGAGP ADVYTFNFSK ESCYFFFEKN LKDVSFRLGS FNLEKVENPA 
EVIRELICYC LDTIAENQAK NEHLQKENER LLRDWNDVQG RFEKCVSAKE ALETDLYKRF 
ILVLNEKKTK IRSLHNKLLN AAQEREKDIK QEGETAICSE MTADRDPVYD ESTDEESENQ 
TDLSGLASAA VSKDDSIISS LDVTDIAPSR KRRQRMQRNL GTEPKMAPQE NQLQEKENSR 
PDSSLPETSK KEHISAENMS LETLRNSSPE DLFDEI

Genular Protein ID: 174272937

Symbol: Q7Z763_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q7Z763

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 InterPro 1 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 4 SAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 61
  • Mass: 6935
  • Checksum: A9B9CA60D5C99F98
  • Sequence:
    • MQRNLGTEPK MAPQENQLQE KENSRPDSSL PETSKKEHIS AENMSLETLR NSSPEETFCS 
I

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.