NTHL1

GPTKB entity

Statements (34)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName hNTH1
nth homolog 1
gptkbp:associatedWith gptkb:MUTYH
gptkb:OGG1
colorectal cancer
NTHL1 tumor syndrome
gptkbp:biologicalProcess DNA N-glycosylase activity
AP lyase activity
gptkbp:discoveredIn 1997
gptkbp:Entrez_Gene_ID 4913
ENSG00000132780
gptkbp:expressedIn ubiquitous
gptkbp:fullName nth endonuclease III-like 1
gptkbp:function DNA glycosylase involved in base excision repair
removes oxidized pyrimidines from DNA
gptkbp:geneType protein-coding
gptkbp:GOID GO:0006284
GO:0004519
gptkbp:HGNC_ID 7897
https://www.w3.org/2000/01/rdf-schema#label NTHL1
gptkbp:length 312 amino acids
gptkbp:locatedOnChromosome 16p13.3
gptkbp:location gptkb:nucleus
gptkbp:mutationAssociatedWith biallelic mutations cause predisposition to multiple tumor types
gptkbp:OMIM 602656
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologIn nth (E. coli)
gptkbp:pathway base excision repair
gptkbp:product Endonuclease III-like protein 1
gptkbp:UniProtID Q7KZ85
gptkbp:bfsParent gptkb:chromosome_16p13.3
gptkb:16p13.13
gptkbp:bfsLayer 7