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

Aliases for LIG1 Gene

Aliases for LIG1 Gene

  • Ligase I, DNA, ATP-Dependent 2 3
  • EC 6.5.1.1 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 (Ligase I, DNA, ATP-Dependent) is a Protein Coding gene. Diseases associated with LIG1 include bloom syndrome and uv-sensitive syndrome. Among its related pathways are Infectious disease and Cell Cycle, Mitotic. GO annotations related to this gene include DNA ligase activity and DNA ligase (ATP) activity.

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

Epigenetics Products

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

Genomic Location for LIG1 Gene

Chromosome:
19
Start:
48,115,444 bp from pter
End:
48,170,603 bp from pter
Size:
55,160 bases
Orientation:
Minus strand

Genomic View for LIG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P18858-DNLI1_HUMAN
    Recommended name:
    DNA ligase 1
    Protein Accession:
    P18858
    Secondary Accessions:
    • B2RAI8
    • B4DTU4
    • Q2TB12
    • Q32P23

    Protein attributes for LIG1 Gene

    Size:
    919 amino acids
    Molecular mass:
    101736 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

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

Graphical View of Domain Structure for InterPro Entry

P18858

UniProtKB/Swiss-Prot:

DNLI1_HUMAN :
  • Belongs to the ATP-dependent DNA ligase family.
Family:
  • Belongs to the ATP-dependent DNA ligase family.
genes like me logo Genes that share domains with LIG1: view

No data available for Gene Families for LIG1 Gene

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 --
GO:0003909 DNA ligase activity IMP 15871698
GO:0003910 DNA ligase (ATP) activity IBA --
GO:0005524 ATP binding IEA --
GO:0046872 metal ion 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:

miRNA for LIG1 Gene

miRTarBase miRNAs that target LIG1

No data available for 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

COMPARTMENTS
Jensen Localization Image for LIG1 Gene COMPARTMENTS Subcellular localization image for LIG1 gene
Compartment Confidence
nucleus 5
golgi apparatus 4
mitochondrion 3

Gene Ontology (GO) - Cellular Components for LIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 8696349
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA --
GO:0005739 mitochondrion IBA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with LIG1: view

Pathways & Interactions for LIG1 Gene

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

Pathways by source for LIG1 Gene

PCR Array Products

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:0000278 mitotic cell cycle TAS --
GO:0000722 telomere maintenance via recombination TAS --
GO:0000723 telomere maintenance TAS --
GO:0000724 double-strand break repair via homologous recombination --
GO:0006259 DNA metabolic process TAS 2204063
genes like me logo Genes that share ontologies with LIG1: view

Drugs & Compounds for LIG1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bleomycin Approved Pharma Target, inhibitor 142
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Cytarabine Approved, Investigational Pharma 995

(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]
7664-38-2
L189
64232-83-3
3-Aminobenzamide
3544-24-9
8-Oxo-dG
adpribose
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LIG1

Flow Cytometry Products

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: - - - - - -
SP2:
SP3: - -
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for LIG1 Gene

GeneLoc Exon Structure for
LIG1
ECgene alternative splicing isoforms for
LIG1

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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia LIG1 35
  • 85.68 (n)
  • 84.59 (a)
LIG1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LIG1 35
  • 86.2 (n)
  • 87.89 (a)
LIG1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lig1 35
  • 82.39 (n)
  • 84.35 (a)
Lig1 16
Lig1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LIG1 35
  • 97.86 (n)
  • 97.71 (a)
LIG1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911727 35
  • 81.85 (n)
  • 84.1 (a)
oppossum
(Monodelphis domestica)
Mammalia LIG1 36
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves LIG1 35
  • 68.96 (n)
  • 68.55 (a)
LIG1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LIG1 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lig1 35
  • 64.13 (n)
  • 68 (a)
African clawed frog
(Xenopus laevis)
Amphibia ligI 35
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-35b8.5 35
  • 63.6 (n)
  • 67.7 (a)
LIG1 36
  • 52 (a)
OneToOne
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)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009222 35
  • 61.33 (n)
  • 58 (a)
worm
(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)
OneToOne
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)
OneToOne
CDC9 38
thale cress
(Arabidopsis thaliana)
eudicotyledons LIG1 35
  • 53.76 (n)
  • 51.29 (a)
rice
(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)
OneToOne
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

ENSEMBL:
Gene Tree for LIG1 (if available)
TreeFam:
Gene Tree for LIG1 (if available)

Paralogs for LIG1 Gene

No data available for Paralogs for LIG1 Gene

Variants for LIG1 Gene

Sequence variations from dbSNP and Humsavar for LIG1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs13436 -- 48,117,779(-) CAGGC(A/C/G)CTGGT synonymous-codon, reference, nc-transcript-variant
rs20579 -- 48,165,573(-) TCTGA(C/G/T)GCCAA utr-variant-5-prime, nc-transcript-variant
rs20580 -- 48,151,296(-) GTGGC(A/C)ACAGA reference, synonymous-codon, intron-variant, nc-transcript-variant
rs20581 -- 48,119,170(-) AGTGA(C/T)GAGGA synonymous-codon, reference, nc-transcript-variant
rs102347 -- 48,130,277(-) GTGAC(A/G)GAGAG intron-variant

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: 22.25% 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

HapMap Linkage Disequilibrium report
LIG1
Human Gene Mutation Database (HGMD)
LIG1

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

Disorders for LIG1 Gene

MalaCards: The human disease database

(5) 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
achalasia-addisonianism-alacrimia syndrome
  • triple-a syndrome
dna ligase iv deficiency
  • lig4 syndrome
vaccinia
- elite association
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)
LIG1
Human Genome Epidemiology (HuGE) Navigator
LIG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LIG1
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. 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) 23 67
  2. 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) 23 67
  3. 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) 23 67
  4. DNA ligase I and Nbs1 proteins associate in a complex and colocalize at replication factories. (PMID: 19597347) Vago R. … Montecucco A. (Cell Cycle 2009) 23 67
  5. An 8-oxo-guanine repair pathway coordinated by MUTYH glycosylase and DNA polymerase lambda. (PMID: 19820168) van Loon B. … HA1bscher U. (Proc. Natl. Acad. Sci. U.S.A. 2009) 23 67

Products for LIG1 Gene

Sources for LIG1 Gene

Back to Top

Content