NTHL1

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)
End	2,047,866 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	24,857,811 bp
RNA expression pattern
	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
	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
	4913
	18207
	ENSG00000065057
	ENSMUSG00000041429
	P78549
	O35980
	NM_002528; NM_001318193; NM_001318194
	NM_008743; NM_001357615
	NP_001305122; NP_001305123; NP_002519
	NP_032769; NP_001344544
	Wikidata
View/Edit Human	View/Edit Mouse

Endonuclease III-like protein 1 is an enzyme that in humans is encoded by the NTHL1 gene.

As reviewed by Li et al., 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, leaving a 3'-unsaturated aldehyde after beta-elimination and a 5'-phosphate at the termini of the repair gap.

Low expression of NTHL1 is associated with initiation and development of astrocytoma. Low expression of NTHL1 is also found in follicular thyroid tumors.

A germ line homozygous mutation in NTHL1 causes a cancer susceptibility syndrome similar to Lynch syndrome.