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Aliases for NTHL1 Gene

Aliases for NTHL1 Gene

  • Nth Endonuclease III-Like 1 (E. Coli) 2 3
  • OCTS3 3 4 6
  • Bifunctional DNA N-Glycoslyase/DNA-(Apurinic Or Apyrimidinic Site) Lyase 3 4
  • DNA Glycoslyase/AP Lyase 3 4
  • HNTH1 3 4
  • NTH1 3 4
  • Nth (E.Coli Endonuclease III)-Like 1 2
  • Endonuclease III-Like Protein 1 3
  • EC 4.2.99.18 4
  • EC 3.2.2.- 4

External Ids for NTHL1 Gene

Previous GeneCards Identifiers for NTHL1 Gene

  • GC16M002107
  • GC16M002030
  • GC16M002031
  • GC16M002032
  • GC16M002089
  • GC16M002014

Summaries for NTHL1 Gene

Entrez Gene Summary for NTHL1 Gene

  • The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]

GeneCards Summary for NTHL1 Gene

NTHL1 (Nth Endonuclease III-Like 1 (E. Coli)) is a Protein Coding gene. Diseases associated with NTHL1 include sclerosing cholangitis and mitochondrial disorders. Among its related pathways are Chks in Checkpoint Regulation and DNA damage_Role of Brca1 and Brca2 in DNA repair. GO annotations related to this gene include double-stranded DNA binding and endonuclease activity.

UniProtKB/Swiss-Prot for NTHL1 Gene

  • Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3 to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Has also 8-oxo-7,8-dihydroguanine (8-oxoG) DNA glycosylase activity. Acts preferentially on DNA damage opposite guanine residues in DNA. Is able to process lesions in nucleosomes without requiring or inducing nucleosome disruption.

Gene Wiki entry for NTHL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NTHL1 Gene

Genomics for NTHL1 Gene

Regulatory Elements for NTHL1 Gene

Transcription factor binding sites by QIAGEN in the NTHL1 gene promoter:

Epigenetics Products

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

Genomic Location for NTHL1 Gene

Start:
2,039,815 bp from pter
End:
2,047,866 bp from pter
Size:
8,052 bases
Orientation:
Minus strand

Genomic View for NTHL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NTHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NTHL1 Gene

Proteins for NTHL1 Gene

  • Protein details for NTHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78549-NTH_HUMAN
    Recommended name:
    Endonuclease III-like protein 1
    Protein Accession:
    P78549
    Secondary Accessions:
    • Q1MVR1
    • Q99566
    • Q99794
    • Q9BPX2

    Protein attributes for NTHL1 Gene

    Size:
    312 amino acids
    Molecular mass:
    34390 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster. The cluster does not appear to play a role in catalysis, but is probably involved in the proper positioning of the enzyme along the DNA strand.;
    Quaternary structure:
    • Interacts with YBX1.

    Alternative splice isoforms for NTHL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NTHL1 Gene

Proteomics data for NTHL1 Gene at MOPED

Post-translational modifications for NTHL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NTHL1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NTHL1 Gene

Domains for NTHL1 Gene

Suggested Antigen Peptide Sequences for NTHL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78549

UniProtKB/Swiss-Prot:

NTH_HUMAN :
  • P78549
Domain:
  • Contains 1 HhH domain.
Family:
  • Belongs to the Nth/MutY family.
genes like me logo Genes that share domains with NTHL1: view

No data available for Gene Families for NTHL1 Gene

Function for NTHL1 Gene

Molecular function for NTHL1 Gene

GENATLAS Biochemistry: nth (E coli endonuclease III)-like 1,34.3 kDa,with lyase activity,involved in the excision of damaged pyrimidines
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=371 nM for 5-hydroxy-6-hydrothymine containing duplex oligonucleotides (N-glycosylase activity) {ECO:0000269 PubMed:11380260, ECO:0000269 PubMed:9890904}; KM=1093 nM for 5-hydroxyuracil containing duplex oligonucleotides (N-glycosylase activity) {ECO:0000269 PubMed:11380260, ECO:0000269 PubMed:9890904}; KM=548 nM for 5-hydroxycytosine containing duplex oligonucleotides (N-glycosylase activity) {ECO:0000269 PubMed:11380260, ECO:0000269 PubMed:9890904}; KM=1101 nM for thymine glycol containing duplex oligonucleotides (N-glycosylase activity) {ECO:0000269 PubMed:11380260, ECO:0000269 PubMed:9890904}; KM=718 nM for 5,6-dihydroxycytosine containing duplex oligonucleotides (N-glycosylase activity) {ECO:0000269 PubMed:11380260, ECO:0000269 PubMed:9890904}; KM=0.05 nM for 5-hydroxycytosine-G containing duplex oligonucleotides (N-glycosylase activity) {ECO:0000269 PubMed:11380260, ECO:0000269 PubMed:9890904}; KM=0.2 nM for 5-hydroxycytosine-A containing duplex oligonucleotides (N-glycosylase activity) {ECO:0000269 PubMed:11380260, ECO:0000269 PubMed:9890904};
UniProtKB/Swiss-Prot CatalyticActivity: The C-O-P bond 3 to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination reaction, leaving a 3-terminal unsaturated sugar and a product with a terminal 5-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation: APE1 displaces NTHL1 from the N-glycosylase-generated AP site in DNA, thereby increasing the turnover of the DNA N-glycosylase activity. AP lyase activity is stimulated by YBX1.
UniProtKB/Swiss-Prot Function: Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3 to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Has also 8-oxo-7,8-dihydroguanine (8-oxoG) DNA glycosylase activity. Acts preferentially on DNA damage opposite guanine residues in DNA. Is able to process lesions in nucleosomes without requiring or inducing nucleosome disruption.

Enzyme Numbers (IUBMB) for NTHL1 Gene

Gene Ontology (GO) - Molecular Function for NTHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003690 double-stranded DNA binding IDA 15358233
GO:0003824 catalytic activity --
GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity IDA 8990169
GO:0004519 endonuclease activity TAS 9831664
genes like me logo Genes that share ontologies with NTHL1: view
genes like me logo Genes that share phenotypes with NTHL1: view

Animal Models for NTHL1 Gene

MGI Knock Outs for NTHL1:

Animal Model Products

CRISPR Products

miRNA for NTHL1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NTHL1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for NTHL1 Gene

Localization for NTHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NTHL1 Gene

Nucleus. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NTHL1 Gene COMPARTMENTS Subcellular localization image for NTHL1 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NTHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12531031
GO:0005654 nucleoplasm TAS --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with NTHL1: view

Pathways for NTHL1 Gene

genes like me logo Genes that share pathways with NTHL1: view

Pathways by source for NTHL1 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for NTHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000737 DNA catabolic process, endonucleolytic --
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0006281 DNA repair TAS --
GO:0006284 base-excision repair TAS --
GO:0006285 base-excision repair, AP site formation TAS --
genes like me logo Genes that share ontologies with NTHL1: view

Compounds for NTHL1 Gene

(2) Novoseek inferred chemical compound relationships for NTHL1 Gene

Compound -log(P) Hits PubMed IDs
thymine glycol 88.6 2
oxygen 4.87 1
genes like me logo Genes that share compounds with NTHL1: view

Transcripts for NTHL1 Gene

mRNA/cDNA for NTHL1 Gene

(7) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NTHL1 Gene

Nth endonuclease III-like 1 (E. coli):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NTHL1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NTHL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NTHL1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for NTHL1 Gene

GeneLoc Exon Structure for
NTHL1
ECgene alternative splicing isoforms for
NTHL1

Expression for NTHL1 Gene

mRNA expression in normal human tissues for NTHL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NTHL1 Gene

SOURCE GeneReport for Unigene cluster for NTHL1 Gene Hs.66196

mRNA Expression by UniProt/SwissProt for NTHL1 Gene

P78549-NTH_HUMAN
Tissue specificity: Widely expressed with highest levels in heart and lowest levels in lung and liver.
genes like me logo Genes that share expressions with NTHL1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for NTHL1 Gene

Orthologs for NTHL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NTHL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NTHL1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NTHL1 35
  • 83.11 (n)
  • 82.89 (a)
NTHL1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NTHL1 35
  • 82.04 (n)
  • 80 (a)
NTHL1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nthl1 35
  • 81.02 (n)
  • 82.03 (a)
Nthl1 16
Nthl1 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NTHL1 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NTHL1 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nthl1 35
  • 81.36 (n)
  • 82.37 (a)
chicken
(Gallus gallus)
Aves CHNTHL1 36
  • 66 (a)
OneToOne
NTHL1 35
  • 71.39 (n)
  • 72.05 (a)
lizard
(Anolis carolinensis)
Reptilia NTHL1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nthl1 35
  • 66.93 (n)
  • 66.54 (a)
Str.11448 35
zebrafish
(Danio rerio)
Actinopterygii nthl1 35
  • 69.37 (n)
  • 73.42 (a)
nthl1 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9272 35
  • 54.86 (n)
  • 50.19 (a)
CG9272 36
  • 35 (a)
OneToOne
CG9272 37
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea nth-1 35
  • 53.86 (n)
  • 51.39 (a)
nth-1 36
  • 38 (a)
OneToOne
R10E4.5 37
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NTG1 36
  • 27 (a)
OneToMany
NTG1 38
NTG2 36
  • 26 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06654 35
  • 54.53 (n)
  • 48.68 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nth1 35
  • 49.39 (n)
  • 49.08 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.720 36
  • 46 (a)
OneToOne
Species with no ortholog for NTHL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NTHL1 Gene

ENSEMBL:
Gene Tree for NTHL1 (if available)
TreeFam:
Gene Tree for NTHL1 (if available)

Paralogs for NTHL1 Gene

No data available for Paralogs for NTHL1 Gene

Variants for NTHL1 Gene

Sequence variations from dbSNP and Humsavar for NTHL1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs885876 -- 2,041,518(-) ttgca(C/G)tgagt intron-variant
rs885877 -- 2,041,430(-) CCATA(A/G)ATTGC intron-variant
rs1048794 -- 2,039,927(-) GGTCT(C/T)TGATG reference, synonymous-codon
rs1574578 -- 2,040,762(-) ACGTT(C/T)CTGGG intron-variant
rs1805378 - 2,044,652(-) GCTCA(C/T)CTACC missense, reference

Structural Variations from Database of Genomic Variants (DGV) for NTHL1 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2540n71 CNV Loss 21882294
dgv2544n71 CNV Loss 21882294
dgv2545n71 CNV Loss 21882294
nsv905048 CNV Loss 21882294
dgv2546n71 CNV Loss 21882294
dgv2547n71 CNV Loss 21882294
dgv2548n71 CNV Gain 21882294
dgv2549n71 CNV Loss 21882294
dgv2550n71 CNV Loss 21882294
dgv2552n71 CNV Gain+Loss 21882294
nsv523037 CNV Loss 19592680
nsv471072 CNV Loss 18288195
dgv2555n71 CNV Gain+Loss 21882294
nsv905095 CNV Gain 21882294
nsv905101 CNV Loss 21882294
nsv905102 CNV Loss 21882294
dgv2556n71 CNV Loss 21882294
dgv2557n71 CNV Loss 21882294

Relevant External Links for NTHL1 Gene

HapMap Linkage Disequilibrium report
NTHL1
Human Gene Mutation Database (HGMD)
NTHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NTHL1 Gene

Disorders for NTHL1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for NTHL1 Gene including...

Search for NTHL1 Gene in MalaCards »

(2) Novoseek inferred disease relationships for NTHL1 Gene

Disease -log(P) Hits PubMed IDs
tuberous sclerosis 45.3 2
cancer 6.1 1

Relevant External Links for NTHL1

Genetic Association Database (GAD)
NTHL1
Human Genome Epidemiology (HuGE) Navigator
NTHL1
genes like me logo Genes that share disorders with NTHL1: view

No data available for UniProtKB/Swiss-Prot for NTHL1 Gene

Publications for NTHL1 Gene

  1. Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III. (PMID: 8990169) Aspinwall R. … Hickson I.D. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 23
  2. Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes. (PMID: 9831664) Imai K. … Seki S. (Gene 1998) 3 4 23
  3. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. (PMID: 18515411) Dallosso A.R. … Sampson J.R. (Gut 2008) 3 23 48
  4. Substrate specificity of human endonuclease III (hNTH1). Effect of human APE1 on hNTH1 activity. (PMID: 12519758) Marenstein D.R. … Teebor G.W. (J. Biol. Chem. 2003) 3 4 23
  5. Altered expression of the human base excision repair gene NTH1 in gastric cancer. (PMID: 19414504) Goto M. … Sugimura H. (Carcinogenesis 2009) 3 23 48

Products for NTHL1 Gene

Sources for NTHL1 Gene

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