Nthl1 nth (endonuclease III)-like 1 (E.coli) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nthl1provided by MGI
Official Full Name: nth (endonuclease III)-like 1 (E.coli)provided by MGI
Primary source: MGI:MGI:1313275
See related: Ensembl:ENSMUSG00000041429 AllianceGenome:MGI:1313275
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: Nth1; Octs3
Summary: Enables DNA N-glycosylase activity and DNA-(apurinic or apyrimidinic site) endonuclease activity. Involved in nucleotide-excision repair. Located in mitochondrion and nucleus. Human ortholog(s) of this gene implicated in familial adenomatous polyposis 3. Orthologous to human NTHL1 (nth like DNA glycosylase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 4.8), limb E14.5 (RPKM 4.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A3.3; 17 12.42 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (24851656..24857812)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (24632680..24638838)

Chromosome 17 - NC_000083.7 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
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?

Mouse Embryonic Fibroblasts Isolated From Nthl1 D227Y Knockin Mice Exhibit Defective DNA Repair and Increased Genome Instability.
Title: Mouse Embryonic Fibroblasts Isolated From Nthl1 D227Y Knockin Mice Exhibit Defective DNA Repair and Increased Genome Instability.
Toxicity, induced by tert-butyl-hydroperoxide and potassium bromate, differs in base excision repair proficient (Mpg (+/+), Nth1 (+/+)) and deficient (Mpg (-/-), Nth1 (-/-)) mouse embryonic fibroblasts following Msh2 knockdown, was examined.
Title: The effect of Msh2 knockdown on toxicity induced by tert-butyl-hydroperoxide, potassium bromate, and hydrogen peroxide in base excision repair proficient and deficient cells.
These results suggest that Nth1 plays an important role in telomere maintenance and base repair against oxidative stress-induced base modifications.
Title: Defective repair of oxidative base lesions by the DNA glycosylase Nth1 associates with multiple telomere defects.
deficiencies in Ogg1 and/or Nth1 do not lead to decreased DNA double strand breaks
Title: The DNA glycosylases Ogg1 and Nth1 do not contribute to Ig class switching in activated mouse splenic B cells.
The high incidence of tumors in Nth1-/-Neil1-/- mice together with the activating mutation in the K-ras gene of their pulmonary tumors, reveal for the first time, the existence of mutagenic and carcinogenic oxidative damage to DNA which is not 8-OH-Gua.
Title: Targeted deletion of the genes encoding NTH1 and NEIL1 DNA N-glycosylases reveals the existence of novel carcinogenic oxidative damage to DNA.
To determine the significance of thymine glycol repair in mammals, a mouse model with mutated mNth1, a homolog of nth, was made by gene targeting. Mutant mouse liver, instead of mNTH1 activity, had at least 2 novel DNA glycosylase activities against Tg.
Title: Novel nuclear and mitochondrial glycosylases revealed by disruption of the mouse Nth1 gene encoding an endonuclease III homolog for repair of thymine glycols.
mNTH1 is responsible for the repair of thymine glycols in mitochondrial DNA
Title: Compromised incision of oxidized pyrimidines in liver mitochondria of mice deficient in NTH1 and OGG1 glycosylases.
the mechanism for the removal of 5,6-dihydrouracil from DNA by mNTH1-deficient cell-free extracts derived from testes of mNTH1 knock-out mice
Title: Repair of dihydrouracil supported by base excision repair in mNTH1 knock-out cell extracts.
NEIL1 is a back-up glycosylase for NTH1 with unique substrate specificity and tissue-specific expression
Title: A back-up glycosylase in Nth1 knock-out mice is a functional Nei (endonuclease VIII) homologue.
ability of nth1 to discriminate between thymine glycol stereoisomers
Title: Stereoselective excision of thymine glycol from oxidatively damaged DNA.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Endonuclease-mediated (3)
Gene trapped (1)
Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables DNA N-glycosylase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA N-glycosylase activity	ISO Inferred from Sequence Orthology more info
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	ISO Inferred from Sequence Orthology more info
enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA Inferred from Electronic Annotation more info
enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity	ISO Inferred from Sequence Orthology more info
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
enables damaged DNA binding	ISO Inferred from Sequence Orthology more info
enables double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in base-excision repair, AP site formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in base-excision repair, AP site formation	IEA Inferred from Electronic Annotation more info
involved_in base-excision repair, AP site formation	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleotide-excision repair	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: endonuclease III-like protein 1

Names: DNA glycoslyase/AP lyase; DNA glycosylase/AP lyase; bifunctional DNA N-glycoslyase/DNA-(apurinic or apyrimidinic site) lyase; bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase; thymine glycol DNA glycosylase/AP lyase

NP_001344544.1

EC 4.2.99.18

NP_001411738.1

EC 4.2.99.18

NP_032769.2

EC 4.2.99.18

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_001357615.2 → NP_001344544.1 endonuclease III-like protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC132367

Related

ENSMUST00000234635.2

Conserved Domains (1) summary

COG0177
Location:28 → 209

Nth; Endonuclease III [Replication, recombination and repair]
NM_001424809.1 → NP_001411738.1 endonuclease III-like protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC132367

Related

ENSMUST00000234308.2
NM_008743.2 → NP_032769.2 endonuclease III-like protein 1 isoform 1

See identical proteins and their annotated locations for NP_032769.2

Status: VALIDATED

Source sequence(s)

AC132367, AV377313, CJ211561, CX565655

Consensus CDS

CCDS28487.1

UniProtKB/Swiss-Prot

E9QMW1, O35980

UniProtKB/TrEMBL

B2RSG2

Related

ENSMUSP00000047413.3, ENSMUST00000047611.4

Conserved Domains (1) summary

COG0177
Location:117 → 298

Nth; Endonuclease III [Replication, recombination and repair]