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Aliases for LIG1 Gene

Aliases for LIG1 Gene

  • Ligase I, DNA, ATP-Dependent 2 3
  • EC 6.5.1.1 4 64
  • Polydeoxyribonucleotide Synthase [ATP] 1 4
  • DNA Ligase I 4

External Ids for LIG1 Gene

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. Among its related pathways are 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 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 LIG1 Gene

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

Genomics for LIG1 Gene

Genomic Location for LIG1 Gene

Start:
48,115,445 bp from pter
End:
48,170,603 bp from pter
Size:
55,159 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

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys226, Lys298, Lys407, Lys422, and Lys795

Domains for LIG1 Gene

UniProtKB/Swiss-Prot:

DNLI1_HUMAN
Family:
  • Belongs to the ATP-dependent DNA ligase family.:
    • P18858
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 Targeting 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
mitochondrion 3
cytosol 2

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:0005694 chromosome --
GO:0005739 mitochondrion IBA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with LIG1: view

Pathways for LIG1 Gene

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

Pathways by source for LIG1 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for LIG1 Gene
2 BioSystems pathways for LIG1 Gene

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 TAS --
GO:0006259 DNA metabolic process TAS 2204063
genes like me logo Genes that share ontologies with LIG1: view

Compounds for LIG1 Gene

(1) Tocris Compounds for LIG1 Gene

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

(4) HMDB Compounds for LIG1 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

(1) Drugbank Compounds for LIG1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Bleomycin
  • Bleocin
11056-06-7 target inhibitor

(19) Novoseek inferred chemical compound relationships for LIG1 Gene

Compound -log(P) Hits PubMed IDs
f-ara-atp 79.6 6
phosphodiester 57.3 1
aphidicolin 50.2 5
3-aminobenzamide 49.4 1
polynucleotide 42.3 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: - - - - - -
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

Integrated Proteomics: protein expression 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 expressions with LIG1: view

Orthologs for LIG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LIG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LIG1 36
  • 97.86 (n)
  • 97.71 (a)
LIG1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LIG1 36
  • 85.68 (n)
  • 84.59 (a)
LIG1 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LIG1 36
  • 86.2 (n)
  • 87.89 (a)
LIG1 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lig1 36
  • 82.39 (n)
  • 84.35 (a)
Lig1 16
Lig1 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LIG1 37
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 63 (a)
OneToMany
-- 37
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC100911727 36
  • 81.85 (n)
  • 84.1 (a)
chicken
(Gallus gallus)
Aves LIG1 36
  • 68.96 (n)
  • 68.55 (a)
LIG1 37
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LIG1 37
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ligI 36
tropical clawed frog
(Silurana tropicalis)
Amphibia lig1 36
  • 64.13 (n)
  • 68 (a)
zebrafish
(Danio rerio)
Actinopterygii LIG1 37
  • 52 (a)
OneToOne
si:dkeyp-35b8.5 36
  • 63.6 (n)
  • 67.7 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009222 36
  • 61.33 (n)
  • 58 (a)
fruit fly
(Drosophila melanogaster)
Insecta DNA-ligI 36
  • 56.52 (n)
  • 51.52 (a)
DNA-ligI 37
  • 50 (a)
OneToOne
caps 38
  • 30 (a)
trn 38
  • 29 (a)
CG5602 38
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea lig-1 36
  • 52.86 (n)
  • 50.72 (a)
lig-1 37
  • 40 (a)
OneToOne
T21D12.9c 38
  • 32 (a)
T21D12.9a 38
  • 30 (a)
T21D12.9b 38
  • 30 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL155W 36
  • 53.7 (n)
  • 50.08 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC9 36
  • 48.88 (n)
  • 46.14 (a)
CDC9 37
  • 41 (a)
OneToOne
CDC9 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12496g 36
  • 50.28 (n)
  • 47.34 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons LIG1 36
  • 53.76 (n)
  • 51.29 (a)
rice
(Oryza sativa)
Liliopsida Os.8285 36
Os10g0489200 36
  • 52.91 (n)
  • 49.63 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc17 36
  • 48.89 (n)
  • 50.41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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(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 synonymous-codon, reference, intron-variant, nc-transcript-variant, utr-variant-5-prime
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

Relevant External Links for LIG1 Gene

HapMap Linkage Disequilibrium report
LIG1
Human Gene Mutation Database (HGMD)
LIG1
Locus Specific Mutation Databases (LSDB)
LIG1

Disorders for LIG1 Gene

(1) MalaCards Diseases for LIG1 Gene

Search for LIG1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for LIG1 Gene

(14) Novoseek inferred disease relationships for LIG1 Gene

Disease -log(P) Hits PubMed IDs
bloom syndrome 82.1 7
nijmegen breakage syndrome 46.3 1
ataxia telangiectasia 45 1
xeroderma pigmentosum 21.9 1
pancreatic carcinoma 10.8 1

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
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. Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. (PMID: 1581963) Barnes D.E. … Lindahl T. (Cell 1992) 3 4 23
  2. A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells. (PMID: 1881902) Petrini J.H.J. … Weaver D.T. (Proc. Natl. Acad. Sci. U.S.A. 1991) 3 4 23
  3. Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae. (PMID: 2204063) Barnes D.E. … Lindahl T. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 4 23
  4. 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 49
  5. Human DNA ligase I completely encircles and partially unwinds nicked DNA. (PMID: 15565146) Pascal J.M. … Ellenberger T. (Nature 2004) 3 4 23

Products for LIG1 Gene

Sources for LIG1 Gene

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