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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

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 Telomere C-strand (Lagging Strand) Synthesis and Depyrimidination. 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

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

Genomics for NTHL1 Gene

Regulatory Elements for NTHL1 Gene

Enhancers for NTHL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G002121 1.9 FANTOM5 Ensembl ENCODE dbSUPER 1.3 -77.7 -77699 8.2 HDGF ATF1 PKNOX1 AGO1 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 KLF7 ENSG00000261123 MLST8 ENSG00000261240 TSC2 NME3 DNASE1L2 NUBP2 NTHL1 SLC9A3R2 TBL3
GH16G002427 1.4 FANTOM5 ENCODE 1.2 -381.4 -381383 2.8 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B ZNF766 CCNF LOC652276 KCTD5 DNASE1L2 ELOB MLST8 RPS2 FLYWCH2 GFER TRAF7
GH16G002081 0.9 ENCODE dbSUPER 0.3 -34.9 -34859 2.4 CTCF BHLHE40 MAX REST RAD21 GABPA ZNF121 ZFHX2 HNF4A ZBTB33 PKD1 TSC2 ENSG00000261123 MIR1225 NTHL1
GH16G002054 0.2 ENCODE 0.4 -7.2 -7169 0.2 NTHL1 MIR1225
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NTHL1 on UCSC Golden Path with GeneCards custom track

Promoters for NTHL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082434 -34 1401 PKNOX1 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF207

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

Genomic Location for NTHL1 Gene

Chromosome:
16
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

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 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;
    Quaternary structure:
    • Interacts with YBX1.

    Alternative splice isoforms for NTHL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NTHL1 Gene

Post-translational modifications for NTHL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NTHL1 Gene

No data available for DME Specific Peptides for NTHL1 Gene

Domains & Families for NTHL1 Gene

Gene Families 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 :
  • 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

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: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

  • Taconic Biosciences Mouse Models for NTHL1

CRISPR Products

miRNA for NTHL1 Gene

Inhibitory RNA Products

Clone 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

Pathways & Interactions for NTHL1 Gene

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

Pathways by source 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 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

(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

mRNA/cDNA for NTHL1 Gene

Unigene Clusters for NTHL1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NTHL1 34 35
  • 83.11 (n)
dog
(Canis familiaris)
Mammalia NTHL1 34 35
  • 82.04 (n)
rat
(Rattus norvegicus)
Mammalia Nthl1 34
  • 81.36 (n)
mouse
(Mus musculus)
Mammalia Nthl1 34 16 35
  • 81.02 (n)
oppossum
(Monodelphis domestica)
Mammalia NTHL1 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NTHL1 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves NTHL1 34
  • 71.39 (n)
CHNTHL1 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NTHL1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nthl1 34
  • 66.93 (n)
Str.11448 34
zebrafish
(Danio rerio)
Actinopterygii nthl1 34 35
  • 69.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9272 36 34 35
  • 54.86 (n)
worm
(Caenorhabditis elegans)
Secernentea nth-1 34 35
  • 53.86 (n)
R10E4.5 36
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NTG1 35 37
  • 27 (a)
OneToMany
NTG2 35
  • 26 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06654 34
  • 54.53 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nth1 34
  • 49.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.720 35
  • 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 Sequence Context AA Info Type
rs1057518535 Pathogenic 2,048,749(+) AATAC(C/TGAGAG)TGAGT intron-variant, upstream-variant-2KB, splice-donor-variant
rs137854117 Pathogenic 2,048,753(+) CTGAG(-/AG)TGAGT intron-variant, upstream-variant-2KB, splice-donor-variant
rs150766139 Pathogenic 2,046,238(+) GTCCT(A/G)GGGCT intron-variant, upstream-variant-2KB, reference, stop-gained
rs372946560 Pathogenic 2,043,566(+) ACTCA(C/T)CAATG splice-donor-variant
rs45512692 Pathogenic 2,048,649(+) GCTTG(A/T)AGGAG intron-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime

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)

Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
familial adenomatous polyposis 3
  • fap3
periampullary adenoma
- 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.

Relevant External Links for NTHL1

Genetic Association Database (GAD)
NTHL1
Human Genome Epidemiology (HuGE) Navigator
NTHL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NTHL1
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 I.D. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 22 64
  2. Altered expression of the human base excision repair gene NTH1 in gastric cancer. (PMID: 19414504) Goto M. … Sugimura H. (Carcinogenesis 2009) 3 22 46 64
  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 22 46 64
  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 22 64
  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 64

Products for NTHL1 Gene

Sources for NTHL1 Gene

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