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Aliases for LIG4 Gene

Aliases for LIG4 Gene

  • Ligase IV, DNA, ATP-Dependent 2 3
  • Polydeoxyribonucleotide Synthase [ATP] 4 2 3 4
  • Polynucleotide Ligase 2 3
  • DNA Repair Enzyme 2 3
  • DNA Ligase IV 3 4
  • DNA Joinase 2 3
  • EC 6.5.1.1 4 63
  • Sealase 2 3
  • DNA Ligase 4 3
  • LIG4S 3

External Ids for LIG4 Gene

Previous GeneCards Identifiers for LIG4 Gene

  • GC13M107220
  • GC13M103247
  • GC13M107696
  • GC13M106558
  • GC13M107657
  • GC13M108859
  • GC13M089450

Summaries for LIG4 Gene

Entrez Gene Summary for LIG4 Gene

  • The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

GeneCards Summary for LIG4 Gene

LIG4 (Ligase IV, DNA, ATP-Dependent) is a Protein Coding gene. Diseases associated with LIG4 include lig4 syndrome and dubowitz syndrome. Among its related pathways are Disease and Chks in Checkpoint Regulation. GO annotations related to this gene include protein C-terminus binding and DNA ligase activity. An important paralog of this gene is LIG3.

UniProtKB/Swiss-Prot for LIG4 Gene

  • Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.

Tocris Summary for LIG4 Gene

  • Ligases catalyze the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. They belong to the E.C. 6 class, which also includes synthases and carboxylases. DNA ligases play an integral role in DNA repair and replication: they catalyze the formation of phosphodiester bonds, using ATP as a co-factor. These enzymes are divided into three classes: DNA ligase I, III and IV. DNA ligase I links Okazaki fragments to form a continuous strand of DNA. DNA ligase III is involved in base excision repair. Finally, DNA ligase IV is involved in the repair of DNA double-strand breaks by non-homologous end joining (NHEJ).

Gene Wiki entry for LIG4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LIG4 Gene

Genomics for LIG4 Gene

Regulatory Elements for LIG4 Gene

Epigenetics Products

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

Genomic Location for LIG4 Gene

Start:
108,207,439 bp from pter
End:
108,218,368 bp from pter
Size:
10,930 bases
Orientation:
Minus strand

Genomic View for LIG4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LIG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIG4 Gene

Proteins for LIG4 Gene

  • Protein details for LIG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49917-DNLI4_HUMAN
    Recommended name:
    DNA ligase 4
    Protein Accession:
    P49917
    Secondary Accessions:
    • Q8IY66
    • Q8TEU5

    Protein attributes for LIG4 Gene

    Size:
    911 amino acids
    Molecular mass:
    103971 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Binds to XRCC4. The LIG4-XRCC4 complex has probably a 1:2 stoichiometry. The LIG4-XRCC4 heteromer associates in a DNA-dependent manner with the DNA-dependent protein kinase complex DNA-PK, formed by the Ku p70/p86 dimer (G22P1/G22P2) and PRKDC. Interacts with APLF.
    SequenceCaution:
    • Sequence=AAL77435.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA58467.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LIG4 Gene

neXtProt entry for LIG4 Gene

Proteomics data for LIG4 Gene at MOPED

Post-translational modifications for LIG4 Gene

  • Ubiquitination at Lys184
  • Modification sites at PhosphoSitePlus

Other Protein References for LIG4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LIG4 (LIG4)

Domains for LIG4 Gene

Suggested Antigen Peptide Sequences for LIG4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49917

UniProtKB/Swiss-Prot:

DNLI4_HUMAN :
  • P49917
Domain:
  • Contains 2 BRCT domains.
Family:
  • Belongs to the ATP-dependent DNA ligase family.
genes like me logo Genes that share domains with LIG4: view

No data available for Gene Families for LIG4 Gene

Function for LIG4 Gene

Molecular function for LIG4 Gene

GENATLAS Biochemistry: DNA ligase IV,ATP-dependent,96kDa,the ligation responsible for DNA double-strand breaks repair by end joining (non homologous recombination) and V(D)J recombination
UniProtKB/Swiss-Prot CatalyticActivity: ATP + (deoxyribonucleotide)(n) + (deoxyribonucleotide)(m) = AMP + diphosphate + (deoxyribonucleotide)(n+m).
UniProtKB/Swiss-Prot Function: Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.

Enzyme Numbers (IUBMB) for LIG4 Gene

Gene Ontology (GO) - Molecular Function for LIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 8798671
GO:0003909 DNA ligase activity TAS --
GO:0003910 DNA ligase (ATP) activity IDA 22192310
GO:0005515 protein binding IPI 11702069
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with LIG4: view
genes like me logo Genes that share phenotypes with LIG4: view

Animal Models for LIG4 Gene

MGI Knock Outs for LIG4:

miRNA for LIG4 Gene

miRTarBase miRNAs that target LIG4

No data available for Transcription Factor Targeting and HOMER Transcription for LIG4 Gene

Localization for LIG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIG4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LIG4 Gene COMPARTMENTS Subcellular localization image for LIG4 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 3
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 condensed chromosome IDA 12589063
GO:0005634 nucleus IDA 12589063
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with LIG4: view

Pathways for LIG4 Gene

genes like me logo Genes that share pathways with LIG4: view

Pathways by source for LIG4 Gene

1 KEGG pathway for LIG4 Gene
1 GeneGo (Thomson Reuters) pathway for LIG4 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for LIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000012 single strand break repair IDA 8798671
GO:0001701 in utero embryonic development ISS --
GO:0002328 pro-B cell differentiation ISS --
GO:0006266 DNA ligation IDA 12517771
GO:0006273 NOT lagging strand elongation IBA --
genes like me logo Genes that share ontologies with LIG4: view

Compounds for LIG4 Gene

(1) Tocris Compounds for LIG4 Gene

Compound Action Cas Number
L189 DNA ligase I, III and IV inhibitor [64232-83-3]

(4) HMDB Compounds for LIG4 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(7) Novoseek inferred chemical compound relationships for LIG4 Gene

Compound -log(P) Hits PubMed IDs
polynucleotide 72.3 8
wortmannin 34.2 1
alanine 3.59 1
nacl 0 1
phosphatidylinositol 0 1
genes like me logo Genes that share compounds with LIG4: view

Transcripts for LIG4 Gene

Unigene Clusters for LIG4 Gene

Ligase IV, DNA, ATP-dependent:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LIG4

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LIG4 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d
SP1: -
SP2:
SP3: - -
SP4: - - - - - -

Relevant External Links for LIG4 Gene

GeneLoc Exon Structure for
LIG4
ECgene alternative splicing isoforms for
LIG4

Expression for LIG4 Gene

mRNA expression in normal human tissues for LIG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LIG4 Gene

SOURCE GeneReport for Unigene cluster for LIG4 Gene Hs.166091

mRNA Expression by UniProt/SwissProt for LIG4 Gene

P49917-DNLI4_HUMAN
Tissue specificity: Testis, thymus, prostate and heart
genes like me logo Genes that share expressions with LIG4: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for LIG4 Gene

Orthologs for LIG4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LIG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LIG4 35
  • 99.27 (n)
  • 99.45 (a)
LIG4 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LIG4 35
  • 85.14 (n)
  • 89.24 (a)
LIG4 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LIG4 35
  • 89.39 (n)
  • 91 (a)
LIG4 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lig4 35
  • 82.58 (n)
  • 87.05 (a)
Lig4 16
Lig4 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LIG4 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 26 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Lig4 35
  • 82.55 (n)
  • 86.17 (a)
chicken
(Gallus gallus)
Aves LIG4 35
  • 75.04 (n)
  • 77.11 (a)
LIG4 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LIG4 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia lig4-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia lig4 35
  • 71.5 (n)
  • 73.53 (a)
Str.4239 35
zebrafish
(Danio rerio)
Actinopterygii lig4 35
  • 65.85 (n)
  • 64.99 (a)
lig4 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000623 35
  • 39.81 (n)
  • 32.64 (a)
fruit fly
(Drosophila melanogaster)
Insecta Lig4 35
  • 45.17 (n)
  • 33.75 (a)
Lig4 36
  • 27 (a)
OneToOne
ligase4 37
  • 31 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR008W 35
  • 43.32 (n)
  • 28.43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNL4 35
  • 44.73 (n)
  • 30.29 (a)
DNL4 36
  • 20 (a)
OneToMany
DNL4 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01089g 35
  • 44.51 (n)
  • 30 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATLIG4 35
  • 46.01 (n)
  • 34.34 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06264 35
  • 44.02 (n)
  • 33.57 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lig4 35
  • 47.46 (n)
  • 33.66 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for LIG4:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 LIG4 Gene

ENSEMBL:
Gene Tree for LIG4 (if available)
TreeFam:
Gene Tree for LIG4 (if available)

Paralogs for LIG4 Gene

Paralogs for LIG4 Gene

genes like me logo Genes that share paralogs with LIG4: view

Variants for LIG4 Gene

Sequence variations from dbSNP and Humsavar for LIG4 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs10131 -- 108,207,498(-) CAAAT(A/G)TATGT utr-variant-3-prime
rs1805383 -- 108,211,276(-) CATCA(A/C)YGCTT utr-variant-5-prime
rs1805384 -- 108,211,333(-) TCTTA(C/T)CTTTT intron-variant
rs1805385 -- 108,214,705(-) CCCAG(A/G)TCGTG intron-variant, utr-variant-5-prime
rs1805386 Likely benign 108,209,565(-) AGTGA(C/T)ATGTA synonymous-codon, reference

Relevant External Links for LIG4 Gene

HapMap Linkage Disequilibrium report
LIG4
Human Gene Mutation Database (HGMD)
LIG4
Locus Specific Mutation Databases (LSDB)
LIG4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LIG4 Gene

Disorders for LIG4 Gene

(3) OMIM Diseases for LIG4 Gene (601837)

UniProtKB/Swiss-Prot

DNLI4_HUMAN
  • LIG4 syndrome (LIG4S) [MIM:606593]: Characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities. {ECO:0000269 PubMed:11779494}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]: A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity. Note=The disease is caused by mutations affecting the gene represented in this entry.

(20) Novoseek inferred disease relationships for LIG4 Gene

Disease -log(P) Hits PubMed IDs
lig4 syndrome 97.4 26
nijmegen breakage syndrome 76.5 5
seckel syndrome 68.9 1
omenn syndrome 66.4 1
ataxia telangiectasia 65.8 5

Relevant External Links for LIG4

Genetic Association Database (GAD)
LIG4
Human Genome Epidemiology (HuGE) Navigator
LIG4
genes like me logo Genes that share disorders with LIG4: view

Publications for LIG4 Gene

  1. DNA ligase IV from HeLa cell nuclei. (PMID: 8798671) Robins P. … Lindahl T. (J. Biol. Chem. 1996) 3 4 23
  2. Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. (PMID: 9259561) Critchlow S.E. … Jackson S.P. (Curr. Biol. 1997) 3 4 23
  3. DNA ligase IV is essential for V(D)J recombination and DNA double- strand break repair in human precursor lymphocytes. (PMID: 9809069) Grawunder U. … Lieber M.R. (Mol. Cell 1998) 3 4 23
  4. Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. (PMID: 10395545) Riballo E. … Jeggo P.A. (Curr. Biol. 1999) 3 4 23
  5. Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity. (PMID: 11349135) Riballo E. … Kysela B. (J. Biol. Chem. 2001) 3 4 23

Products for LIG4 Gene

  • Addgene plasmids for LIG4

Sources for LIG4 Gene

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