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Aliases for LIG1 Gene

Aliases for LIG1 Gene

  • DNA Ligase 1 2
  • Ligase I, DNA, ATP-Dependent 2 3 5
  • EC 4 63
  • Polydeoxyribonucleotide Synthase [ATP] 1 4
  • DNA Ligase I 4

External Ids for LIG1 Gene

Previous GeneCards Identifiers for LIG1 Gene

  • GC19M049263
  • GC19M048986
  • GC19M053294
  • GC19M053310
  • GC19M048618
  • GC19M045000

Summaries for LIG1 Gene

Entrez Gene Summary for LIG1 Gene

  • This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for LIG1 Gene

LIG1 (DNA Ligase 1) is a Protein Coding gene. Diseases associated with LIG1 include Bloom Syndrome and Vaccinia. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Integrated Pancreatic Cancer Pathway. GO annotations related to this gene include DNA ligase activity and DNA ligase (ATP) activity. An important paralog of this gene is LIG3.

UniProtKB/Swiss-Prot for LIG1 Gene

  • DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA repair.

Tocris Summary for LIG1 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.

Gene Wiki entry for LIG1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LIG1 Gene

Genomics for LIG1 Gene

Regulatory Elements for LIG1 Gene

Enhancers for LIG1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LIG1 on UCSC Golden Path with GeneCards custom track

Promoters for LIG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LIG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LIG1 Gene

48,115,444 bp from pter
48,170,603 bp from pter
55,160 bases
Minus strand

Genomic View for LIG1 Gene

Genes around LIG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LIG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LIG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIG1 Gene

Proteins for LIG1 Gene

  • Protein details for LIG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DNA ligase 1
    Protein Accession:
    Secondary Accessions:
    • B2RAI8
    • B4DTU4
    • Q2TB12
    • Q32P23

    Protein attributes for LIG1 Gene

    919 amino acids
    Molecular mass:
    101736 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with PCNA.

    Three dimensional structures from OCA and Proteopedia for LIG1 Gene

    Alternative splice isoforms for LIG1 Gene


neXtProt entry for LIG1 Gene

Proteomics data for LIG1 Gene at MOPED

Post-translational modifications for LIG1 Gene

  • Ubiquitination at Lys 226, Lys 298, Lys 407, Lys 422, and Lys 795
  • Modification sites at PhosphoSitePlus

Domains & Families for LIG1 Gene

Gene Families for LIG1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ATP-dependent DNA ligase family.
  • Belongs to the ATP-dependent DNA ligase family.
genes like me logo Genes that share domains with LIG1: view

Function for LIG1 Gene

Molecular function for LIG1 Gene

GENATLAS Biochemistry:
DNA ligase I,ATP-dependent,yeast cdc9 homolog,interacting with FEN1 to inhibit DNA synthesis by DNA polymerase delta/PCNA complex,required for fetal liver erythropoiesis
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + (deoxyribonucleotide)(n) + (deoxyribonucleotide)(m) = AMP + diphosphate + (deoxyribonucleotide)(n+m).
UniProtKB/Swiss-Prot Function:
DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA repair.

Enzyme Numbers (IUBMB) for LIG1 Gene

Gene Ontology (GO) - Molecular Function for LIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with LIG1: view
genes like me logo Genes that share phenotypes with LIG1: view

Animal Models for LIG1 Gene

MGI Knock Outs for LIG1:

Animal Model Products

miRNA for LIG1 Gene

miRTarBase miRNAs that target LIG1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LIG1 Gene

Localization for LIG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIG1 Gene

Subcellular locations from

Jensen Localization Image for LIG1 Gene COMPARTMENTS Subcellular localization image for LIG1 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
mitochondrion 4
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for LIG1 Gene

Pathways & Interactions for LIG1 Gene

genes like me logo Genes that share pathways with LIG1: view

Pathways by source for LIG1 Gene

SIGNOR curated interactions for LIG1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination TAS --
GO:0006259 DNA metabolic process TAS 2204063
GO:0006260 DNA replication IEA --
GO:0006271 DNA strand elongation involved in DNA replication TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with LIG1: view

Drugs & Compounds for LIG1 Gene

(11) Drugs for LIG1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bleomycin Approved Pharma Target, inhibitor 151
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(14) Additional Compounds for LIG1 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]

(1) Tocris Compounds for LIG1 Gene

Compound Action Cas Number
L189 DNA ligase I, III and IV inhibitor 64232-83-3
genes like me logo Genes that share compounds with LIG1: view

Transcripts for LIG1 Gene

Unigene Clusters for LIG1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for LIG1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - - - - -
SP3: - -
SP5: -
SP6: -

ExUns: 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31
SP1: - - -

Relevant External Links for LIG1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LIG1 Gene

mRNA expression in normal human tissues for LIG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LIG1 Gene

This gene is overexpressed in Fetal Brain (21.7), Lymph node (13.6), and Blymphocyte (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LIG1 Gene

SOURCE GeneReport for Unigene cluster for LIG1 Gene Hs.1770

genes like me logo Genes that share expression patterns with LIG1: view

Protein tissue co-expression partners for LIG1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LIG1 Gene

Orthologs for LIG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LIG1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia LIG1 35
  • 85.68 (n)
  • 84.59 (a)
LIG1 36
  • 84 (a)
(Canis familiaris)
Mammalia LIG1 35
  • 86.2 (n)
  • 87.89 (a)
LIG1 36
  • 87 (a)
(Mus musculus)
Mammalia Lig1 35
  • 82.39 (n)
  • 84.35 (a)
Lig1 16
Lig1 36
  • 83 (a)
(Pan troglodytes)
Mammalia LIG1 35
  • 97.86 (n)
  • 97.71 (a)
LIG1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia LOC100911727 35
  • 81.85 (n)
  • 84.1 (a)
(Monodelphis domestica)
Mammalia LIG1 36
  • 47 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
-- 36
  • 86 (a)
(Gallus gallus)
Aves LIG1 35
  • 68.96 (n)
  • 68.55 (a)
LIG1 36
  • 62 (a)
(Anolis carolinensis)
Reptilia LIG1 36
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lig1 35
  • 64.13 (n)
  • 68 (a)
African clawed frog
(Xenopus laevis)
Amphibia ligI 35
(Danio rerio)
Actinopterygii si:dkeyp-35b8.5 35
  • 63.6 (n)
  • 67.7 (a)
LIG1 36
  • 52 (a)
fruit fly
(Drosophila melanogaster)
Insecta caps 37
  • 30 (a)
CG5602 37
  • 47 (a)
trn 37
  • 29 (a)
DNA-ligI 35
  • 56.52 (n)
  • 51.52 (a)
DNA-ligI 36
  • 50 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009222 35
  • 61.33 (n)
  • 58 (a)
(Caenorhabditis elegans)
Secernentea T21D12.9a 37
  • 30 (a)
T21D12.9b 37
  • 30 (a)
T21D12.9c 37
  • 32 (a)
lig-1 35
  • 52.86 (n)
  • 50.72 (a)
lig-1 36
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL155W 35
  • 53.7 (n)
  • 50.08 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12496g 35
  • 50.28 (n)
  • 47.34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC9 35
  • 48.88 (n)
  • 46.14 (a)
CDC9 36
  • 41 (a)
CDC9 38
thale cress
(Arabidopsis thaliana)
eudicotyledons LIG1 35
  • 53.76 (n)
  • 51.29 (a)
(Oryza sativa)
Liliopsida Os.8285 35
Os10g0489200 35
  • 52.91 (n)
  • 49.63 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc17 35
  • 48.89 (n)
  • 50.41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
Species with no ortholog for LIG1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)

Evolution for LIG1 Gene

Gene Tree for LIG1 (if available)
Gene Tree for LIG1 (if available)

Paralogs for LIG1 Gene

Paralogs for LIG1 Gene

genes like me logo Genes that share paralogs with LIG1: view

Variants for LIG1 Gene

Sequence variations from dbSNP and Humsavar for LIG1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_002262 -
VAR_002263 -
rs3730911 - 48,149,793(-) GCCAG(A/G)GGCTC nc-transcript-variant, reference, missense
rs3730933 - 48,143,940(-) TTACA(A/G)TCCTG nc-transcript-variant, reference, missense
rs4987068 - 48,137,550(-) GTTCC(A/G)CGACA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LIG1 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv833853 CNV Loss 17160897
esv34181 CNV Loss 18971310
nsv912217 CNV Loss 21882294

Variation tolerance for LIG1 Gene

Residual Variation Intolerance Score: 22.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.47; 64.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LIG1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LIG1 Gene

Disorders for LIG1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for LIG1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bloom syndrome
  • bloom-torre-machacek syndrome
uv-sensitive syndrome
  • uv sensitive syndrome
spinocerebellar ataxia 10
  • spinocerebellar ataxia type 10
achalasia-addisonianism-alacrimia syndrome
  • triple-a syndrome
- elite association - COSMIC cancer census association via MalaCards
Search LIG1 in MalaCards View complete list of genes associated with diseases

Genatlas disease for LIG1 Gene

growth retardation,immunodeficiency and predisposition to malignancies,Bloom syndrome-like phenotype

Relevant External Links for LIG1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with LIG1: view

No data available for UniProtKB/Swiss-Prot for LIG1 Gene

Publications for LIG1 Gene

  1. Polymorphism of DNA ligase I and risk of lung cancer--a case-control analysis. (PMID: 12009232) Shen H. … Wei Q. (Lung Cancer 2002) 3 23 48 67
  2. Assignment of the gene encoding DNA ligase I to human chromosome 19q13.2-13.3. (PMID: 1733856) Barnes D.E. … Mohrenweiser H.W. (Genomics 1992) 2 3 23
  3. Phosphorylation of human DNA ligase I regulates its interaction with replication factor C and its participation in DNA replication and DNA repair. (PMID: 19223468) Vijayakumar S. … Tomkinson A.E. (Mol. Cell. Biol. 2009) 3 23
  4. The DNA binding domain of human DNA ligase I interacts with both nicked DNA and the DNA sliding clamps, PCNA and hRad9-hRad1-hHus1. (PMID: 19523882) Song W. … Tomkinson A.E. (DNA Repair (Amst.) 2009) 3 23
  5. Distinct kinetics of human DNA ligases I, IIIalpha, IIIbeta, and IV reveal direct DNA sensing ability and differential physiological functions in DNA repair. (PMID: 19589734) Chen X. … Wilson G.M. (DNA Repair (Amst.) 2009) 3 23

Products for LIG1 Gene

Sources for LIG1 Gene