Details for: LIG4

Gene ID: 3981

Symbol: LIG4

Ensembl ID: ENSG00000174405

Description: DNA ligase 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: 77.3408
    Cell Significance Index: -12.0300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 46.8768
    Cell Significance Index: -11.8900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 30.9263
    Cell Significance Index: -12.7400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 25.8457
    Cell Significance Index: -10.5000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 11.0291
    Cell Significance Index: -10.5300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.9111
    Cell Significance Index: -12.2200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.1284
    Cell Significance Index: -12.3500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.9808
    Cell Significance Index: 32.6400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.4256
    Cell Significance Index: -3.1200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.9715
    Cell Significance Index: 61.2300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8972
    Cell Significance Index: 810.0800
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.8286
    Cell Significance Index: 5.5000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7585
    Cell Significance Index: 20.3300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6197
    Cell Significance Index: 67.4100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6144
    Cell Significance Index: 36.8900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5328
    Cell Significance Index: 7.2700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5307
    Cell Significance Index: 86.3100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4806
    Cell Significance Index: 96.4100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3499
    Cell Significance Index: 40.7800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2821
    Cell Significance Index: 14.6600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.2694
    Cell Significance Index: 4.0600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2450
    Cell Significance Index: 7.0600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2423
    Cell Significance Index: 16.7600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2419
    Cell Significance Index: 86.7500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2289
    Cell Significance Index: 4.9600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2145
    Cell Significance Index: 21.2200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2056
    Cell Significance Index: 9.3200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1712
    Cell Significance Index: 33.9700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1592
    Cell Significance Index: 30.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1576
    Cell Significance Index: 6.9700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1518
    Cell Significance Index: 5.7500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1510
    Cell Significance Index: 4.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1250
    Cell Significance Index: 9.6000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1116
    Cell Significance Index: 60.9600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1104
    Cell Significance Index: 7.1200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1034
    Cell Significance Index: 71.5100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1004
    Cell Significance Index: 12.3500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0985
    Cell Significance Index: 17.7600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0771
    Cell Significance Index: 2.7100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0680
    Cell Significance Index: 1.7000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0616
    Cell Significance Index: 27.2600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0440
    Cell Significance Index: 6.0400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0296
    Cell Significance Index: 0.6300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0281
    Cell Significance Index: 1.3100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0272
    Cell Significance Index: 0.3900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0143
    Cell Significance Index: 0.9600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0075
    Cell Significance Index: 0.0900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0072
    Cell Significance Index: 4.5500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0060
    Cell Significance Index: 1.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0021
    Cell Significance Index: 4.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0009
    Cell Significance Index: 1.6200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0004
    Cell Significance Index: -0.6100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0010
    Cell Significance Index: -1.4700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0018
    Cell Significance Index: -1.3300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0035
    Cell Significance Index: -2.0000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0042
    Cell Significance Index: -2.6300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0044
    Cell Significance Index: -3.2400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0094
    Cell Significance Index: -1.1100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0126
    Cell Significance Index: -9.5000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0127
    Cell Significance Index: -1.6300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0156
    Cell Significance Index: -1.1100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0157
    Cell Significance Index: -7.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0185
    Cell Significance Index: -1.1400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0253
    Cell Significance Index: -7.2900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0297
    Cell Significance Index: -6.2600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0490
    Cell Significance Index: -7.1200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0495
    Cell Significance Index: -5.0600
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.0527
    Cell Significance Index: -0.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0629
    Cell Significance Index: -4.6900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0665
    Cell Significance Index: -7.6200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0735
    Cell Significance Index: -9.4900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0837
    Cell Significance Index: -2.3400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0857
    Cell Significance Index: -4.8100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0862
    Cell Significance Index: -4.0500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0887
    Cell Significance Index: -10.1200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0935
    Cell Significance Index: -4.9100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0962
    Cell Significance Index: -2.5700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1039
    Cell Significance Index: -1.7800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1048
    Cell Significance Index: -2.2400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1089
    Cell Significance Index: -5.6700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1158
    Cell Significance Index: -12.0600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1177
    Cell Significance Index: -3.2100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1330
    Cell Significance Index: -10.5300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1449
    Cell Significance Index: -3.7300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1459
    Cell Significance Index: -3.2000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1477
    Cell Significance Index: -4.7300
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1564
    Cell Significance Index: -1.2800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1605
    Cell Significance Index: -9.8400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1795
    Cell Significance Index: -3.8100
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1921
    Cell Significance Index: -2.7400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2019
    Cell Significance Index: -5.4000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.2088
    Cell Significance Index: -3.3500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2213
    Cell Significance Index: -5.3100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2273
    Cell Significance Index: -7.2400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2296
    Cell Significance Index: -11.6000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2383
    Cell Significance Index: -8.2800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2425
    Cell Significance Index: -7.9400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2435
    Cell Significance Index: -7.1500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2586
    Cell Significance Index: -9.0600
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2615
    Cell Significance Index: -1.5800

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:** LIG4 is a DNA ligase that catalyzes the joining of DNA strands, forming a phosphodiester bond between the 5' and 3' ends of the DNA fragments. 2. **Expression:** LIG4 is highly expressed in cells that are rapidly dividing, such as hematopoietic cells, neurons, and stem cells. 3. **Subcellular localization:** LIG4 is primarily localized to the nucleus, where it interacts with other proteins involved in DNA repair. 4. **Interactions:** LIG4 interacts with other proteins, including DNA-dependent protein kinase (DNA-PK), to facilitate the repair of DNA double-strand breaks. **Pathways and Functions:** 1. **Non-homologous end joining (NHEJ):** LIG4 is a critical component of the NHEJ pathway, which is responsible for repairing DNA double-strand breaks by joining the broken ends together. 2. **DNA repair:** LIG4 plays a key role in the repair of DNA double-strand breaks, which can occur due to various forms of radiation, such as UV light and X-rays. 3. **Cell cycle regulation:** LIG4 is involved in the regulation of the cell cycle, particularly in the G1 and S phases, where DNA repair is essential for maintaining genome stability. 4. **Neurodevelopment:** LIG4 is also involved in the development of the central nervous system, particularly in the formation of neural connections and the maintenance of neuronal function. **Clinical Significance:** 1. **Cancer susceptibility:** Mutations in the LIG4 gene have been linked to an increased risk of cancer, particularly in children, and have been associated with the development of neuroblastoma and other childhood cancers. 2. **Neurodevelopmental disorders:** LIG4 mutations have also been associated with neurodevelopmental disorders, such as autism and schizophrenia. 3. **Radiation sensitivity:** Individuals with LIG4 mutations may be more susceptible to the effects of ionizing radiation, which can increase the risk of cancer and other diseases. 4. **Therapeutic applications:** LIG4 inhibitors are being explored as potential therapeutic agents for the treatment of cancer and other diseases associated with DNA damage. In conclusion, LIG4 is a crucial enzyme involved in the repair of DNA double-strand breaks, and its dysregulation has been linked to various human diseases. Further research is needed to fully understand the mechanisms of LIG4 function and its role in human health and disease.

Genular Protein ID: 334589121

Symbol: DNLI4_HUMAN

Name: Polydeoxyribonucleotide synthase [ATP] 4

UniProtKB Accession Codes:

P49917 Q8IY66 Q8TEU5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 4 CORUM 1 CPTC 1 CTD 1 ChEBI 15 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 4 EMDB 15 Ensembl 16 EvolutionaryTrace 1 ExpressionAtlas 1 GO 49 Gene3D 5 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 12 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 23 PDBsum 23 PIR 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 15 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7760816

Title: Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination.

PubMed ID: 7760816

DOI: 10.1128/mcb.15.6.3206

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 8798671

Title: DNA ligase IV from HeLa cell nuclei.

PubMed ID: 8798671

DOI: 10.1074/jbc.271.39.24257

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: 9809069

Title: DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes.

PubMed ID: 9809069

DOI: 10.1016/s1097-2765(00)80147-1

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: 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: 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: 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: 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: 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: 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: 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: 24984242

Title: DNA Ligase IV regulates XRCC4 nuclear localization.

PubMed ID: 24984242

DOI: 10.1016/j.dnarep.2014.05.010

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: 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: 11702069

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

PubMed ID: 11702069

DOI: 10.1038/nsb725

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: 23219551

Title: Structural basis of DNA ligase IV-Artemis interaction in nonhomologous end-joining.

PubMed ID: 23219551

DOI: 10.1016/j.celrep.2012.11.004

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: 23523427

Title: Structure of the catalytic region of DNA ligase IV in complex with an Artemis fragment sheds light on double-strand break repair.

PubMed ID: 23523427

DOI: 10.1016/j.str.2013.02.014

PubMed ID: 29980672

Title: Structures of DNA-bound human ligase IV catalytic core reveal insights into substrate binding and catalysis.

PubMed ID: 29980672

DOI: 10.1038/s41467-018-05024-8

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: 33586762

Title: Hypomorphic mutations in human DNA ligase IV lead to compromised DNA binding efficiency, hydrophobicity and thermal stability.

PubMed ID: 33586762

DOI: 10.1093/protein/gzab001

PubMed ID: 10395545

Title: Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient.

PubMed ID: 10395545

DOI: 10.1016/s0960-9822(99)80311-x

PubMed ID: 11349135

Title: Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity.

PubMed ID: 11349135

DOI: 10.1074/jbc.m103866200

PubMed ID: 11779494

Title: DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PubMed ID: 11779494

DOI: 10.1016/s1097-2765(01)00408-7

PubMed ID: 12471202

Title: Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.

PubMed ID: 12471202

DOI: 10.1136/jmg.39.12.900

PubMed ID: 16357942

Title: A new type of radiosensitive T-B-NK(+) severe combined immunodeficiency caused by a LIG4 mutation.

PubMed ID: 16357942

DOI: 10.1172/jci26121

PubMed ID: 25728776

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

PubMed ID: 25728776

DOI: 10.1016/j.ajhg.2015.01.013

Sequence Information:

  • Length: 911
  • Mass: 103971
  • Checksum: 2122813E1EFA63B9
  • Sequence:
    • MAASQTSQTV ASHVPFADLC STLERIQKSK GRAEKIRHFR EFLDSWRKFH DALHKNHKDV 
TDSFYPAMRL ILPQLERERM AYGIKETMLA KLYIELLNLP RDGKDALKLL NYRTPTGTHG 
DAGDFAMIAY FVLKPRCLQK GSLTIQQVND LLDSIASNNS AKRKDLIKKS LLQLITQSSA 
LEQKWLIRMI IKDLKLGVSQ QTIFSVFHND AAELHNVTTD LEKVCRQLHD PSVGLSDISI 
TLFSAFKPML AAIADIEHIE KDMKHQSFYI ETKLDGERMQ MHKDGDVYKY FSRNGYNYTD 
QFGASPTEGS LTPFIHNAFK ADIQICILDG EMMAYNPNTQ TFMQKGTKFD IKRMVEDSDL 
QTCYCVFDVL MVNNKKLGHE TLRKRYEILS SIFTPIPGRI EIVQKTQAHT KNEVIDALNE 
AIDKREEGIM VKQPLSIYKP DKRGEGWLKI KPEYVSGLMD ELDILIVGGY WGKGSRGGMM 
SHFLCAVAEK PPPGEKPSVF HTLSRVGSGC TMKELYDLGL KLAKYWKPFH RKAPPSSILC 
GTEKPEVYIE PCNSVIVQIK AAEIVPSDMY KTGCTLRFPR IEKIRDDKEW HECMTLDDLE 
QLRGKASGKL ASKHLYIGGD DEPQEKKRKA APKMKKVIGI IEHLKAPNLT NVNKISNIFE 
DVEFCVMSGT DSQPKPDLEN RIAEFGGYIV QNPGPDTYCV IAGSENIRVK NIILSNKHDV 
VKPAWLLECF KTKSFVPWQP RFMIHMCPST KEHFAREYDC YGDSYFIDTD LNQLKEVFSG 
IKNSNEQTPE EMASLIADLE YRYSWDCSPL SMFRRHTVYL DSYAVINDLS TKNEGTRLAI 
KALELRFHGA KVVSCLAEGV SHVIIGEDHS RVADFKAFRR TFKRKFKILK ESWVTDSIDK 
CELQEENQYL I

Genular Protein ID: 3088259987

Symbol: A0A0C4DGV9_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0C4DGV9

Database IDs:

ARBA 10 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 4 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 1 Ensembl 4 GO 8 Gene3D 5 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 12 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PROSITE 6 PeptideAtlas 1 Pfam 5 Proteomes 2 ProteomicsDB 1 RefSeq 2 RuleBase 2 SMART 1 SUPFAM 3 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

Sequence Information:

  • Length: 844
  • Mass: 96215
  • Checksum: BB16F3B834E1B134
  • Sequence:
    • MRLILPQLER ERMAYGIKET MLAKLYIELL NLPRDGKDAL KLLNYRTPTG THGDAGDFAM 
IAYFVLKPRC LQKGSLTIQQ VNDLLDSIAS NNSAKRKDLI KKSLLQLITQ SSALEQKWLI 
RMIIKDLKLG VSQQTIFSVF HNDAAELHNV TTDLEKVCRQ LHDPSVGLSD ISITLFSAFK 
PMLAAIADIE HIEKDMKHQS FYIETKLDGE RMQMHKDGDV YKYFSRNGYN YTDQFGASPT 
EGSLTPFIHN AFKADIQICI LDGEMMAYNP NTQTFMQKGT KFDIKRMVED SDLQTCYCVF 
DVLMVNNKKL GHETLRKRYE ILSSIFTPIP GRIEIVQKTQ AHTKNEVIDA LNEAIDKREE 
GIMVKQPLSI YKPDKRGEGW LKIKPEYVSG LMDELDILIV GGYWGKGSRG GMMSHFLCAV 
AEKPPPGEKP SVFHTLSRVG SGCTMKELYD LGLKLAKYWK PFHRKAPPSS ILCGTEKPEV 
YIEPCNSVIV QIKAAEIVPS DMYKTGCTLR FPRIEKIRDD KEWHECMTLD DLEQLRGKAS 
GKLASKHLYI GGDDEPQEKK RKAAPKMKKV IGIIEHLKAP NLTNVNKISN IFEDVEFCVM 
SGTDSQPKPD LENRIAEFGG YIVQNPGPDT YCVIAGSENI RVKNIILSNK HDVVKPAWLL 
ECFKTKSFVP WQPRFMIHMC PSTKEHFARE YDCYGDSYFI DTDLNQLKEV FSGIKNSNEQ 
TPEEMASLIA DLEYRYSWDC SPLSMFRRHT VYLDSYAVIN DLSTKNEGTR LAIKALELRF 
HGAKVVSCLA EGVSHVIIGE DHSRVADFKA FRRTFKRKFK ILKESWVTDS IDKCELQEEN 
QYLI

Genular Protein ID: 2090187688

Symbol: A8K8Q4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8K8Q4

Database IDs:

ARBA 10 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 4 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 11 Gene3D 5 InterPro 12 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PROSITE 6 PeptideAtlas 1 Pfam 5 RefSeq 1 RuleBase 2 SMART 1 SUPFAM 3

Sequence Information:

  • Length: 844
  • Mass: 96203
  • Checksum: 9BE5FF88F7E9ED4E
  • Sequence:
    • MRLILPQLER ERMAYGIKET MLAKLYIELL NLPRDGKDAL KLLNYRTPTG THGDAGDFAM 
IAYFVLKPRC LQKGSLTIQQ VNDLLDSIAS NNSAKRKDLI KKSLLQLITQ SSALEQKWLI 
RMIIKDLKLG VSQQTIFSVF HNDAAELHNV TTDLEKVCRQ LHDPSVGLSD ISITLFSAFK 
PMLAAIADIE HIEKDMKHQS FYIETKLDGE RMQMHKDGDV YKYFSRNGYN YTDQFGASPT 
EGSLTPFIHN AFKADIQICI LDGEMMAYNP NTQTFMQKGT KFDIKRMVED SDLQTCYCVF 
DVLMVNNKKL GHETLRKRYE ILSSIFTPIP GRIEIVQKTQ AHTKNEVIDA LNEAIDKREE 
GIMVKQPLSI YKPDKRGEGW LKIKPEYVSG LMDELDILIV GGYWGKGSRG GMMSHFLCAV 
AEKPPPGEKP SVFHTLSRVG SGCTMKELYD LGLKLAKYWK PFHRKAPPSS ILCGTEKPEV 
YIEPCNSVIV QIKAAEIVPS DMYKTGCTLR FPRIEKIRDD KEWHECMTLD DLEQLRGKAS 
GKLASKHLYI GGDDEPQEKK RKAAPKMKKV IGIIEHLKAP NLTNVNKISN IFEDVEFCVM 
SGTDSQPKPD LENRTAEFGG YIVQNPGPDT YCVIAGSENI RVKNIILSNK HDVVKPAWLL 
ECFKTKSFVP WQPRFMIHMC PSTKEHFARE YDCYGDSYFI DTDLNQLKEV FSGIKNSNEQ 
TPEEMASLIA DLEYRYSWDC SPLSMFRRHT VYLDSYAVIN DLSTKNEGTR LAIKALELRF 
HGAKVVSCLA EGVSHVIIGE DHSRVADFKA FRRTFKRKFK ILKESWVTDS IDKCELQEEN 
QYLI

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.