Entity Details

Primary name NTHL1
Entity type gene
Source Source Link

Details

PrimaryID4913
RefseqGeneNG_008412
SymbolNTHL1
Namenth like DNA glycosylase 1
Chromosome16
Location16p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-05-27
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsNTH_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000703 oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity
GO:0003684 damaged DNA binding
GO:0003690 double-stranded DNA binding
GO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity
GO:0004519 endonuclease activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0006285 base-excision repair, AP site formation
GO:0006287 base-excision repair, gap-filling
GO:0006296 nucleotide-excision repair, DNA incision, 5'-to lesion
GO:0019104 DNA N-glycosylase activity
GO:0045008 depyrimidination
GO:0046872 metal ion binding
GO:0051539 4 iron, 4 sulfur cluster binding
GO:0140078 class I DNA-(apurinic or apyrimidinic site) endonuclease activity

Diseases

Show/Hide Table
Disease IDSourceNameDescription
616415 OMIMFamilial adenomatous polyposis 3 (FAP3)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. The disease is caused by variants affecting the gene represented in this entry.