NTHL1

Endonuclease III-like protein 1 is an enzyme that in humans is encoded by the NTHL1 gene.^[5][6][7]

NTHL1
Identifiers
Aliases	NTHL1, NTH1, OCTS3, hNTH1, FAP3, nth-like DNA glycosylase 1, nth like DNA glycosylase 1
External IDs	OMIM: 602656; MGI: 1313275; HomoloGene: 1897; GeneCards: NTHL1; OMA:NTHL1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 2,039,815 bp[1] End 2,047,866 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 A3.3 Start 24,851,654 bp[2] End 24,857,811 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver apex of heart mucosa of transverse colon right uterine tube putamen right hemisphere of cerebellum gonad nucleus accumbens caudate nucleus right frontal lobe Top expressed in blastocyst embryo zygote morula embryo primary oocyte yolk sac epiblast secondary oocyte right kidney More reference expression data BioGPS More reference expression data
Gene ontology Molecular function lyase activity protein binding catalytic activity endonuclease activity double-stranded DNA binding hydrolase activity, acting on glycosyl bonds hydrolase activity DNA binding iron-sulfur cluster binding metal ion binding 4 iron, 4 sulfur cluster binding DNA N-glycosylase activity DNA-(apurinic or apyrimidinic site) endonuclease activity oxidized purine nucleobase lesion DNA N-glycosylase activity oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity class I DNA-(apurinic or apyrimidinic site) endonuclease activity Cellular component nucleoplasm nucleus mitochondrion Biological process depyrimidination cellular response to DNA damage stimulus metabolism nucleotide-excision repair, DNA incision, 5'-to lesion DNA repair base-excision repair base-excision repair, AP site formation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4913 18207 Ensembl ENSG00000065057 ENSMUSG00000041429 UniProt P78549 O35980 RefSeq (mRNA) NM_002528 NM_001318193 NM_001318194 NM_008743 NM_001357615 RefSeq (protein) NP_001305122 NP_001305123 NP_002519 NP_032769 NP_001344544 Location (UCSC) Chr 16: 2.04 – 2.05 Mb Chr 17: 24.85 – 24.86 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

As reviewed by Li et al.,^[8] NTHL1 is a bifunctional DNA glycosylase that has an associated beta-elimination activity. NTHL1 is usually involved in removing oxidative pyrimidine lesions through base excision repair. NTHL1 catalyses the first step in base excision repair. It cleaves the N-glycosylic bond between the damaged base and its associated sugar residue and then cleaves the phosphodiester bond 3' to the AP site,^[9] leaving a 3'-unsaturated aldehyde after beta-elimination and a 5'-phosphate at the termini of the repair gap.^[8]

Low expression of NTHL1 is associated with initiation and development of astrocytoma.^[10] Low expression of NTHL1 is also found in follicular thyroid tumors.^[11]

A germ line homozygous mutation in NTHL1 causes a cancer susceptibility syndrome similar to Lynch syndrome.^[12][13]

See also

• OGG1
• NEIL1
• NEIL2
• NEIL3