Human_Genes_Functions
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Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

NTHL1

NTHL1

protein_coding 16 2,039,814 - 2,047,866 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000065057
Gene type
protein_coding
Chromosome
16
Coordinates
2,039,814 - 2,047,866
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

4913 CCDS10457 ENST00000651570.2 NM_002528 NM_002528.7 NTH1 OCTS3 P78549 nth (E.coli endonuclease III)-like 1 nth endonuclease III-like 1 (E. coli)

Summary

GENCODE gene_type=protein_coding; HGNC symbol=NTHL1; HGNC name=nth like DNA glycosylase 1; alias_count=10; RefSeq=NM_002528; UniProt=P78549; MANE Select=ENST00000651570.2,NM_002528.7

Source: GENCODE + HGNC complete set

4913 • protein-coding

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]

NCBI Gene

UniProt

P78549 • reviewed

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 (PubMed:29610152, PubMed:9927729). 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. Also has 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

Endonuclease III-like protein 1 · Nucleus; Mitochondrion · EC 4.2.99.18

P78549 • reviewed

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 (PubMed:29610152, PubMed:9927729). 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. Also has 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

Endonuclease III-like protein 1 · Nucleus; Mitochondrion · EC 4.2.99.18

GO annotations

Biological process
  • GO:0006281 DNA repair (IEA)
  • GO:0006284 base-excision repair (IEA)
  • GO:0006284 base-excision repair (IEA)
  • GO:0006285 base-excision repair, AP site formation (IEA)
  • GO:0006285 base-excision repair, AP site formation (IEA)
  • GO:0006285 base-excision repair, AP site formation (IDA)
  • GO:0006285 base-excision repair, AP site formation (IDA)
  • GO:0006285 base-excision repair, AP site formation (IBA)
  • GO:0045008 depyrimidination (TAS)
  • GO:0006289 nucleotide-excision repair (IEA)

+ 3 more

Cellular component
  • GO:0005739 mitochondrion (IEA)
  • GO:0005739 mitochondrion (IEA)
  • GO:0005739 mitochondrion (IEA)
  • GO:0005739 mitochondrion (HTP)
  • GO:0005739 mitochondrion (EXP)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)

+ 14 more

Molecular function
  • GO:0051539 4 iron, 4 sulfur cluster binding (IEA)
  • GO:0019104 DNA N-glycosylase activity (IEA)
  • GO:0019104 DNA N-glycosylase activity (IEA)
  • GO:0019104 DNA N-glycosylase activity (IEA)
  • GO:0019104 DNA N-glycosylase activity (IDA)
  • GO:0003677 DNA binding (IEA)
  • GO:0003677 DNA binding (IEA)
  • GO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity (IEA)
  • GO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity (IEA)
  • GO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity (IEA)

+ 22 more

Representative

Representative transcript
ENST00000651570
Representative protein
ENSP00000498421.1
Representative type
CCDS
Candidate count
2

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=NA

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000903566 NTHL1-214 protein_coding not available ENSP00000573625.1 16:2,039,814 - 2,047,866 -
ENST00000903568 NTHL1-216 protein_coding not available ENSP00000573627.1 16:2,039,814 - 2,047,866 -
ENST00000219066 NTHL1-201 protein_coding not available ENSP00000219066.1 16:2,039,815 - 2,047,866 -
ENST00000903567 NTHL1-215 protein_coding not available ENSP00000573626.1 16:2,039,815 - 2,047,866 -
ENST00000925705 NTHL1-218 protein_coding not available ENSP00000595764.1 16:2,039,815 - 2,047,866 -
ENST00000925706 NTHL1-219 protein_coding not available ENSP00000595765.1 16:2,039,815 - 2,047,866 -
ENST00000925707 NTHL1-220 protein_coding not available ENSP00000595766.1 16:2,039,815 - 2,047,866 -
ENST00000925710 NTHL1-223 protein_coding not available ENSP00000595769.1 16:2,039,815 - 2,047,866 -
ENST00000971053 NTHL1-226 protein_coding not available ENSP00000641114.1 16:2,039,815 - 2,047,866 -
ENST00000992062 NTHL1-228 nonsense_mediated_decay not available ENSP00000661879.1 16:2,039,815 - 2,047,836 -
ENST00001092513 NTHL1-231 nonsense_mediated_decay not available ENSP00000762319.1 16:2,039,815 - 2,047,850 -
ENST00001092514 NTHL1-232 nonsense_mediated_decay not available ENSP00000762320.1 16:2,039,816 - 2,047,848 -
ENST00000651522 NTHL1-211 protein_coding not available ENSP00000498290.1 16:2,039,818 - 2,046,190 -
ENST00000561862 NTHL1-203 retained_intron not available not available 16:2,039,820 - 2,040,468 -
ENST00000565406 NTHL1-206 retained_intron not available not available 16:2,039,820 - 2,044,826 -
ENST00000566380 NTHL1-207 protein_coding not available ENSP00000455267.1 16:2,039,820 - 2,047,786 -
ENST00000651570 NTHL1-212 protein_coding not available ENSP00000498421.1 16:2,039,820 - 2,047,834 -
ENST00000925708 NTHL1-221 protein_coding not available ENSP00000595767.1 16:2,039,820 - 2,047,866 -
ENST00000925709 NTHL1-222 protein_coding not available ENSP00000595768.1 16:2,039,820 - 2,047,866 -
ENST00000925713 NTHL1-225 protein_coding not available ENSP00000595772.1 16:2,039,820 - 2,047,866 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.