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

    Gene ID: 18207, updated on 9-Dec-2024

    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, Dec 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 4.8), limb E14.5 (RPKM 4.3) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Nthl1 in Genome Data Viewer
    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_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 57643 Neighboring gene polycystin 1, transient receptor potential channel interacting Neighboring gene STARR-seq mESC enhancer starr_42089 Neighboring gene TSC complex subunit 2 Neighboring gene STARR-positive B cell enhancer ABC_E7498 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:24769632-24769741 Neighboring gene NHERF family PDZ scaffold protein 2 Neighboring gene neuropeptide W

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    General gene information

    Markers

    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 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

    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
    NP_001411738.1
    NP_032769.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001357615.2NP_001344544.1  endonuclease III-like protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC132367
      Related
      ENSMUST00000234635.2
      Conserved Domains (1) summary
      COG0177
      Location:28209
      Nth; Endonuclease III [Replication, recombination and repair]
    2. NM_001424809.1NP_001411738.1  endonuclease III-like protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC132367
      Related
      ENSMUST00000234308.2
    3. NM_008743.2NP_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:117298
      Nth; Endonuclease III [Replication, recombination and repair]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      24851656..24857812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)