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NTHL1 Gene(Protein Coding)

Nth Like DNA Glycosylase 1

GCID:
GC16M002076
GIFtS:
51
Genes Participants
UDN Logo

Aliases for NTHL1 Gene

Aliases for NTHL1 Gene

  • Nth Like DNA Glycosylase 1 2 3 5
  • Bifunctional DNA N-Glycosylase/DNA-(Apurinic Or Apyrimidinic Site) Lyase 3 4
  • DNA Glycosylase/AP Lyase 3 4
  • OCTS3 3 4
  • HNTH1 3 4
  • NTH1 3 4
  • Bifunctional DNA N-Glycoslyase/DNA-(Apurinic Or Apyrimidinic Site) Lyase 3
  • Nth Endonuclease III-Like 1 (E. Coli) 2
  • Nth (E.Coli Endonuclease III)-Like 1 2
  • Endonuclease III-Like Protein 1 3
  • Nth Endonuclease III-Like 1 3
  • DNA Glycoslyase/AP Lyase 3
  • EC 4.2.99.18 4
  • EC 3.2.2.- 4
  • FAP3 3

External Ids for NTHL1 Gene

Previous GeneCards Identifiers for NTHL1 Gene

  • GC16M002107
  • GC16M002030
  • GC16M002031
  • GC16M002032
  • GC16M002089
  • GC16M002014
  • GC16M002041
  • GC16M002042
  • GC16M002052
  • GC16M002061

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 Like DNA Glycosylase 1) is a Protein Coding gene. Diseases associated with NTHL1 include Familial Adenomatous Polyposis 3 and Periampullary Adenoma. Among its related pathways are Depyrimidination and Telomere C-strand (Lagging Strand) Synthesis. Gene Ontology (GO) annotations related to this gene include double-stranded DNA binding and 4 iron, 4 sulfur cluster binding.

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

Additional gene information for NTHL1 Gene

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

Genomics for NTHL1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for NTHL1 Gene

Promoters and enhancers for NTHL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16I002046 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 223 2.6 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 E2F8 ZNF207 TSC2 GC16M002062 NTHL1 ENSG00000261505 TELO2 CRAMP1 ENSG00000260954 NUBP2 SRRM2 ERVK13-1
GH16I002427 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 1.2 -381.4 -381382 2.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B POLR2B E2F8 ZNF207 CCNF TBL3 AMDHD2 ZNF200 CRAMP1 ENSG00000261207 ENSG00000260051 ZNF598 LOC652276 KCTD5
GH16I002121 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.3 -77.7 -77699 8.2 HDGF PKNOX1 ATF1 SIN3A FEZF1 ZNF2 IRF4 ZNF121 GLIS2 ARID2 AMDHD2 ENSG00000260051 TBL3 E4F1 CLCN7 ENSG00000261207 ENSG00000261123 MLST8 ENSG00000261240 TSC2
GH16I002032 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 0.4 +9.3 9346 12.8 CLOCK FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 SLC30A9 SLC9A3R2 PKD1 RAB26 TRAF7 SNORD60 SYNGR3 ENSG00000255513 BRICD5 JPT2 HAGH
GH16I002081 Enhancer 0.8 ENCODE dbSUPER 0.3 -34.9 -34859 2.4 CTCF RXRA MAX REST RAD21 GABPA ZFHX2 POLR2A HNF4A ZBTB33 PKD1 TSC2 ENSG00000261123 MIR1225 NTHL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NTHL1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for NTHL1 Gene

Genomic Locations for NTHL1 Gene
chr16:2,039,815-2,047,866
(GRCh38/hg38)
Size:
8,052 bases
Orientation:
Minus strand
chr16:2,089,816-2,097,867
(GRCh37/hg19)

Genomic View for NTHL1 Gene

Genes around NTHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NTHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NTHL1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NTHL1 Gene

Proteins for NTHL1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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;
    Quaternary structure:
    • Interacts with YBX1.

    Alternative splice isoforms for NTHL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NTHL1 Gene

Protein Expression for NTHL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NTHL1 Gene

No Post-translational modifications

Other Protein References for NTHL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for NTHL1

No data available for DME Specific Peptides for NTHL1 Gene

Domains & Families for NTHL1 Gene

Gene Families for NTHL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for NTHL1 Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Belongs to the Nth/MutY family.
Family:
  • Belongs to the Nth/MutY family.
genes like me logo Genes that share domains with NTHL1: view

Function for NTHL1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Phenotypes From GWAS Catalog for NTHL1 Gene

Gene Ontology (GO) - Molecular Function for NTHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000703 oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity TAS --
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IDA 15358233
GO:0003824 catalytic activity IEA --
GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity IDA 8990169
genes like me logo Genes that share ontologies with NTHL1: view
genes like me logo Genes that share phenotypes with NTHL1: view

Human Phenotype Ontology for NTHL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NTHL1 Gene

MGI Knock Outs for NTHL1:

Animal Model Products

CRISPR Products

miRNA for NTHL1 Gene

miRTarBase miRNAs that target NTHL1

Inhibitory RNA Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NTHL1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
peroxisome 1
cytosol 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 IBA --
genes like me logo Genes that share ontologies with NTHL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NTHL1 Gene

Pathways & Interactions for NTHL1 Gene

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

Pathways by source for NTHL1 Gene

1 KEGG pathway for NTHL1 Gene
1 GeneGo (Thomson Reuters) pathway for NTHL1 Gene
1 Qiagen pathway for NTHL1 Gene

Gene Ontology (GO) - Biological Process for NTHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006284 base-excision repair IEA --
GO:0006285 base-excision repair, AP site formation IDA 15358233
GO:0006296 nucleotide-excision repair, DNA incision, 5-to lesion IEA,IDA 8990169
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with NTHL1: view

No data available for SIGNOR curated interactions for NTHL1 Gene

Drugs & Compounds for NTHL1 Gene

Products:

  1. Drug

(1) Drugs for NTHL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for NTHL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NTHL1: view

Transcripts for NTHL1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NTHL1 Gene

(4) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(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

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NTHL1 Gene

mRNA expression in normal human tissues for NTHL1 Gene
mRNA expression by GTEx for NTHL1 GenemRNA expression by BioGPS for NTHL1 Gene

Protein differential expression in normal tissues from HIPED for NTHL1 Gene

This gene is overexpressed in Colon muscle (26.9) and Pancreas (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NTHL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NTHL1 Gene:

NTHL1

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.

Evidence on tissue expression from TISSUES for NTHL1 Gene

  • Liver(4.3)
  • Bone marrow(4.2)
  • Lung(4.2)
  • Spleen(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NTHL1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • reproductive
  • skeletal muscle
Organs:
Thorax:
  • breast
General:
  • skin
genes like me logo Genes that share expression patterns with NTHL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 34
  • 98 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia NTHL1 33 34
  • 83.11 (n)
dog
(Canis familiaris)
 Mammalia NTHL1 33 34
  • 82.04 (n)
rat
(Rattus norvegicus)
 Mammalia Nthl1 33
  • 81.36 (n)
mouse
(Mus musculus)
 Mammalia Nthl1 33 16 34
  • 81.02 (n)
oppossum
(Monodelphis domestica)
 Mammalia NTHL1 34
  • 67 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia NTHL1 34
  • 55 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves NTHL1 33
  • 71.39 (n)
CHNTHL1 34
  • 66 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia NTHL1 34
  • 75 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia nthl1 33
  • 66.93 (n)
Str.11448 33
zebrafish
(Danio rerio)
 Actinopterygii nthl1 33 34
  • 69.37 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG9272 35 33 34
  • 54.86 (n)
worm
(Caenorhabditis elegans)
 Secernentea nth-1 33 34
  • 53.86 (n)
R10E4.5 35
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes NTG1 34 36
  • 27 (a)
 OneToMany
NTG2 34
  • 26 (a)
 OneToMany
bread mold
(Neurospora crassa)
 Ascomycetes NCU06654 33
  • 54.53 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes nth1 33
  • 49.39 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.720 34
  • 46 (a)
 OneToOne
Species where no ortholog for NTHL1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1057522105 likely-benign, uncertain-significance, not specified, Tuberous sclerosis 2 2,048,698(-) C/A upstream_transcript_variant
rs1060504100 likely-benign, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome 2,048,738(-) C/T upstream_transcript_variant
rs1060504108 likely-benign, Tuberous sclerosis 2 2,048,675(-) A/C/G upstream_transcript_variant
rs1060504110 likely-benign, Tuberous sclerosis 2 2,048,729(-) T/C upstream_transcript_variant
rs137854019 not-provided, Tuberous sclerosis syndrome 2,048,634(-) AAA/AA upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv4859n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1160329 CNV deletion 26073780
nsv471072 CNV loss 18288195
nsv523037 CNV loss 19592680
nsv952901 CNV deletion 24416366

Variation tolerance for NTHL1 Gene

Residual Variation Intolerance Score: 84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NTHL1 Gene

Human Gene Mutation Database (HGMD)
NTHL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NTHL1

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

Disorders for NTHL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NTHL1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NTHL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NTH_HUMAN
  • Familial adenomatous polyposis 3 (FAP3) [MIM:616415]: A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. {ECO:0000269 PubMed:25938944}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NTHL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NTHL1: view

No data available for Genatlas 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 ID (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 22 58
  2. Altered expression of the human base excision repair gene NTH1 in gastric cancer. (PMID: 19414504) Goto M … Sugimura H (Carcinogenesis 2009) 3 22 44 58
  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 AR … Sampson JR (Gut 2008) 3 22 44 58
  4. Substrate specificity of human endonuclease III (hNTH1). Effect of human APE1 on hNTH1 activity. (PMID: 12519758) Marenstein DR … Teebor GW (The Journal of biological chemistry 2003) 3 4 22 58
  5. 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 22 58

Products for NTHL1 Gene

Sources for NTHL1 Gene

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