Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LIG3 Gene

Aliases for LIG3 Gene

  • DNA Ligase 3 2 3
  • Ligase III, DNA, ATP-Dependent 2 3 5
  • Polydeoxyribonucleotide Synthase [ATP] 3 3 4
  • Ligase II, DNA, ATP-Dependent 2 3
  • EC 6.5.1.1 4 63
  • DNA Ligase III 4
  • LIG2 3

External Ids for LIG3 Gene

Previous HGNC Symbols for LIG3 Gene

  • LIG2

Previous GeneCards Identifiers for LIG3 Gene

  • GC17P033077
  • GC17P035343
  • GC17P033453
  • GC17P030331
  • GC17P033307
  • GC17P029493

Summaries for LIG3 Gene

Entrez Gene Summary for LIG3 Gene

  • This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for LIG3 Gene

LIG3 (DNA Ligase 3) is a Protein Coding gene. Diseases associated with LIG3 include urofacial syndrome 2 and bloom syndrome. Among its related pathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). GO annotations related to this gene include DNA ligase activity and DNA ligase (ATP) activity. An important paralog of this gene is LIG1.

UniProtKB/Swiss-Prot for LIG3 Gene

  • Isoform 3 functions as heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Isoform 1 is targeted to mitochondria, where it functions as DNA ligase in mitochondrial base-excision DNA repair (PubMed:10207110, PubMed:24674627).

Tocris Summary for LIG3 Gene

  • Ligases are enzymes which 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 of enzymes, which also includes synthases and carboxylases.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LIG3 Gene

Genomics for LIG3 Gene

Regulatory Elements for LIG3 Gene

Promoters for LIG3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LIG3 on UCSC Golden Path with GeneCards custom track

Genomic Location for LIG3 Gene

Chromosome:
17
Start:
34,980,494 bp from pter
End:
35,009,743 bp from pter
Size:
29,250 bases
Orientation:
Plus strand

Genomic View for LIG3 Gene

Genes around LIG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LIG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LIG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIG3 Gene

Proteins for LIG3 Gene

  • Protein details for LIG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49916-DNLI3_HUMAN
    Recommended name:
    DNA ligase 3
    Protein Accession:
    P49916
    Secondary Accessions:
    • E5KLB5
    • E5KLB6
    • Q16714
    • Q6NVK3

    Protein attributes for LIG3 Gene

    Size:
    1009 amino acids
    Molecular mass:
    112907 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Isoform 3 interacts (via BRCT domain) with the nuclear DNA-repair protein XRCC1.

    Three dimensional structures from OCA and Proteopedia for LIG3 Gene

    Alternative splice isoforms for LIG3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LIG3 Gene

Proteomics data for LIG3 Gene at MOPED

Selected DME Specific Peptides for LIG3 Gene

Post-translational modifications for LIG3 Gene

  • Ubiquitination at Lys 728 and Lys 765
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for LIG3 Gene

Suggested Antigen Peptide Sequences for LIG3 Gene

Graphical View of Domain Structure for InterPro Entry

P49916

UniProtKB/Swiss-Prot:

DNLI3_HUMAN :
  • The PARP-type zinc finger is required for DNA ligase activity.
  • Belongs to the ATP-dependent DNA ligase family.
  • Contains 1 PARP-type zinc finger.
Domain:
  • The PARP-type zinc finger is required for DNA ligase activity.
  • Contains 1 BRCT domain.
Family:
  • Belongs to the ATP-dependent DNA ligase family.
Similarity:
  • Contains 1 PARP-type zinc finger.
genes like me logo Genes that share domains with LIG3: view

Function for LIG3 Gene

Molecular function for LIG3 Gene

GENATLAS Biochemistry:
DNA ligase III,ATP-dependent,103kDa,complexing with LIG3,involved in DNA replication,recombination and DNA repair,highly expressed in testes
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + (deoxyribonucleotide)(n) + (deoxyribonucleotide)(m) = AMP + diphosphate + (deoxyribonucleotide)(n+m).
UniProtKB/Swiss-Prot Function:
Isoform 3 functions as heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Isoform 1 is targeted to mitochondria, where it functions as DNA ligase in mitochondrial base-excision DNA repair (PubMed:10207110, PubMed:24674627).

Enzyme Numbers (IUBMB) for LIG3 Gene

Gene Ontology (GO) - Molecular Function for LIG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with LIG3: view
genes like me logo Genes that share phenotypes with LIG3: view

Animal Models for LIG3 Gene

MGI Knock Outs for LIG3:

Animal Model Products

  • Taconic Biosciences Mouse Models for LIG3

miRNA for LIG3 Gene

miRTarBase miRNAs that target LIG3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LIG3 Gene

Localization for LIG3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIG3 Gene

Isoform 1: Mitochondrion. Note=Contains an N-terminal mitochondrial transit peptide. {ECO:0000269 PubMed:10207110}.
Isoform 2: Mitochondrion. Note=Contains an N-terminal mitochondrial transit peptide. {ECO:0000305 PubMed:10207110}.
Isoform 3: Nucleus. Note=Lacks the N-terminal mitochondrial transit peptide. {ECO:0000269 PubMed:10207110}.
Isoform 4: Nucleus. Note=Lacks the N-terminal mitochondrial transit peptide. {ECO:0000305 PubMed:10207110}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LIG3 Gene COMPARTMENTS Subcellular localization image for LIG3 gene
Compartment Confidence
mitochondrion 5
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for LIG3 Gene

Pathways & Interactions for LIG3 Gene

genes like me logo Genes that share pathways with LIG3: view

SIGNOR curated interactions for LIG3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for LIG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0006273 NOT lagging strand elongation IBA --
GO:0006281 DNA repair IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006284 base-excision repair TAS --
genes like me logo Genes that share ontologies with LIG3: view

Drugs & Compounds for LIG3 Gene

(8) Drugs for LIG3 Gene - From: HMDB, Novoseek, DrugBank, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bleomycin Approved Pharma Target, inhibitor 144
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum 2540
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2643
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(7) Additional Compounds for LIG3 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
L189
64232-83-3
genes like me logo Genes that share compounds with LIG3: view

Transcripts for LIG3 Gene

Unigene Clusters for LIG3 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for LIG3 Gene

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

ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for LIG3 Gene

GeneLoc Exon Structure for
LIG3
ECgene alternative splicing isoforms for
LIG3

Expression for LIG3 Gene

mRNA expression in normal human tissues for LIG3 Gene

Protein differential expression in normal tissues from HIPED for LIG3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.9) and Pancreas (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LIG3 Gene



SOURCE GeneReport for Unigene cluster for LIG3 Gene Hs.100299

mRNA Expression by UniProt/SwissProt for LIG3 Gene

P49916-DNLI3_HUMAN
Tissue specificity: Testis, thymus, prostate and heart.
genes like me logo Genes that share expression patterns with LIG3: view

Protein tissue co-expression partners for LIG3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LIG3 Gene

Orthologs for LIG3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LIG3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LIG3 35
  • 99.7 (n)
  • 99.5 (a)
LIG3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LIG3 36
  • 85 (a)
OneToOne
LIG3 35
  • 89.18 (n)
  • 88.78 (a)
dog
(Canis familiaris)
Mammalia LIG3 35
  • 88.49 (n)
  • 90.25 (a)
LIG3 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lig3 16
Lig3 35
  • 87.64 (n)
  • 88.4 (a)
Lig3 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LIG3 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LIG3 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lig3 35
  • 88.14 (n)
  • 90.21 (a)
chicken
(Gallus gallus)
Aves LIG3 36
  • 79 (a)
OneToOne
LIG3 35
  • 74.1 (n)
  • 80.16 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398275 35
tropical clawed frog
(Silurana tropicalis)
Amphibia lig3 35
  • 69.73 (n)
  • 77.02 (a)
zebrafish
(Danio rerio)
Actinopterygii lig3 36
  • 71 (a)
OneToOne
lig3 35
  • 67.9 (n)
  • 70.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta lig3 36
  • 39 (a)
OneToOne
CG17227 37
  • 45 (a)
lig3 35
  • 54.2 (n)
  • 49.92 (a)
worm
(Caenorhabditis elegans)
Secernentea K07C5.3 37
  • 28 (a)
lig-4 36
  • 15 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNL4 36
  • 13 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12130 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for LIG3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LIG3 Gene

ENSEMBL:
Gene Tree for LIG3 (if available)
TreeFam:
Gene Tree for LIG3 (if available)

Paralogs for LIG3 Gene

Paralogs for LIG3 Gene

(1) SIMAP similar genes for LIG3 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with LIG3: view

Variants for LIG3 Gene

Sequence variations from dbSNP and Humsavar for LIG3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1076992 -- 34,983,093(-) ATCAC(A/G)CCAGT reference, missense
rs1003918 -- 35,005,158(+) AAAGG(A/G)GAGGT intron-variant, downstream-variant-500B
rs2074514 -- 34,999,671(-) TTGAG(A/C)CATGT intron-variant
rs2074515 -- 34,999,670(-) TGAGC(C/T)ATGTG intron-variant
rs2074516 -- 34,998,998(-) ATTTT(C/G)CCTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LIG3 Gene

Variant ID Type Subtype PubMed ID
nsv2035 CNV Loss 18451855

Variation tolerance for LIG3 Gene

Residual Variation Intolerance Score: 6.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.54; 44.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LIG3 Gene

HapMap Linkage Disequilibrium report
LIG3
Human Gene Mutation Database (HGMD)
LIG3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LIG3 Gene

Disorders for LIG3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for LIG3 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
urofacial syndrome 2
  • ufs2
bloom syndrome
  • bloom-torre-machacek syndrome
intracranial abscess
meninges hemangiopericytoma
  • hemangiopericytoma of meninges
cutaneous anthrax
  • anthrax, skin type
- elite association - COSMIC cancer census association via MalaCards
Search LIG3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LIG3

Genetic Association Database (GAD)
LIG3
Human Genome Epidemiology (HuGE) Navigator
LIG3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LIG3
genes like me logo Genes that share disorders with LIG3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LIG3 Gene

Publications for LIG3 Gene

  1. 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. (PMID: 7760816) Wei Y.-F. … Lindahl T. (Mol. Cell. Biol. 1995) 2 3 4 23 67
  2. Two DNA-binding and nick recognition modules in human DNA ligase III. (PMID: 18238776) Cotner-Gohara E. … Ellenberger T. (J. Biol. Chem. 2008) 3 23
  3. A novel interaction between DNA ligase III and DNA polymerase gamma plays an essential role in mitochondrial DNA stability. (PMID: 17054425) De A. … Campbell C. (Biochem. J. 2007) 3 23
  4. Low levels of DNA ligases III and IV sufficient for effective NHEJ. (PMID: 17492771) Windhofer F. … Iliakis G. (J. Cell. Physiol. 2007) 3 23
  5. Base excision repair proteins are required for integrin-mediated suppression of bleomycin-induced DNA breakage in murine lung endothelial cells. (PMID: 17202402) Rose J.L. … Hoyt D.G. (J. Pharmacol. Exp. Ther. 2007) 25 26

Products for LIG3 Gene

Sources for LIG3 Gene

Back to Top

Content