Lig1 ligase I, DNA, ATP-dependent [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lig1provided by MGI
Official Full Name: ligase I, DNA, ATP-dependentprovided by MGI
Primary source: MGI:MGI:101789
See related: Ensembl:ENSMUSG00000056394 AllianceGenome:MGI:101789
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LigI
Summary: Predicted to enable DNA ligase (ATP) activity. Acts upstream of or within DNA replication; double-strand break repair via nonhomologous end joining; and response to hydrogen peroxide. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in inherited metabolic disorder and primary immunodeficiency disease. Orthologous to human LIG1 (DNA ligase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in liver E14 (RPKM 34.7), liver E14.5 (RPKM 31.4) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A1; 7 7.82 cM

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (13011101..13045351)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (13277175..13311426)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unchanged PCNA and DNMT1 dynamics during replication in DNA ligase I-deficient cells but abnormal chromatin levels of non-replicative histone H1.
Title: Unchanged PCNA and DNMT1 dynamics during replication in DNA ligase I-deficient cells but abnormal chromatin levels of non-replicative histone H1.
Increased presynaptic glutamate release is a key early event resulting from Lgi1-deficiency, which likely contributes to epileptogenesis.
Title: LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development.
Lig1 is not absolutely required for cellular DNA replication and repair in Lig1-null cell line.
Title: DNA ligase I is not essential for mammalian cell viability.
LigI has a highly specific role in CTG repeat maintenance in the maternal germline, involved in mediating CTG expansions and in the avoidance of maternal CTG contractions.
Title: Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.
DNA ligase I null mouse cells show normal DNA repair activity but altered DNA replication and reduced genome stability.
Title: DNA ligase I null mouse cells show normal DNA repair activity but altered DNA replication and reduced genome stability.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Lig1 (e-PCR), detects polymorphism
- UniSTS:525690

Lig1 (e-PCR), detects polymorphism
- UniSTS:507027

U04674 (e-PCR)
- UniSTS:125648

RH124191 (e-PCR)
- UniSTS:161013

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA ligase (ATP) activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA ligase (ATP) activity	IEA Inferred from Electronic Annotation more info
enables DNA ligase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in DNA ligation	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
NOT acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Okazaki fragment processing involved in mitotic DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in base-excision repair	ISO Inferred from Sequence Orthology more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lagging strand elongation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to hydrogen peroxide	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA ligase 1

Names: DNA ligase I; polydeoxyribonucleotide synthase [ATP] 1

NP_001076657.2

EC 6.5.1.1

NP_001186239.2

EC 6.5.1.1

NP_034845.3

EC 6.5.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001083188.2 → NP_001076657.2 DNA ligase 1

Status: VALIDATED

Source sequence(s)

AC161792, AK161793, MG954305

UniProtKB/Swiss-Prot

P37913

UniProtKB/TrEMBL

Q8R055

Related

ENSMUSP00000126525.4, ENSMUST00000165964.10

Conserved Domains (1) summary

PLN03113
Location:171 → 912

PLN03113; DNA ligase 1; Provisional
NM_001199310.2 → NP_001186239.2 DNA ligase 1

Status: VALIDATED

Source sequence(s)

AC161792, AK161793, MG954305

UniProtKB/Swiss-Prot

P37913

UniProtKB/TrEMBL

Q8R055

Related

ENSMUSP00000136972.4, ENSMUST00000177588.10

Conserved Domains (1) summary

PLN03113
Location:171 → 912

PLN03113; DNA ligase 1; Provisional
NM_010715.3 → NP_034845.3 DNA ligase 1

Status: VALIDATED

Source sequence(s)

AC161792, AK161793, MG954305

UniProtKB/Swiss-Prot

P37913

UniProtKB/TrEMBL

Q8R055

Related

ENSMUSP00000096411.7, ENSMUST00000098814.13

Conserved Domains (1) summary

PLN03113
Location:171 → 912

PLN03113; DNA ligase 1; Provisional