UniProt:P78549 NTHL1

chain
  • transit peptide:1-22
  • chain:23-304
checksum DA97D508BE3D83F0
comment
  • FUNCTION 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.CATALYTIC ACTIVITY 2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-phospho-2'-deoxyribonucleoside-DNA + H(+)COFACTOR Binds 1 [4Fe-4S] cluster. The cluster does not appear to play a role in catalysis, but is probably involved in the proper positioning of the enzyme along the DNA strand.ACTIVITY REGULATION APE1 displaces NTHL1 from the N-glycosylase-generated AP site in DNA, thereby increasing the turnover of the DNA N-glycosylase activity (PubMed:11287425, PubMed:12519758). AP lyase activity is stimulated by YBX1 (PubMed:11287425). ERCC5/XPG stimulates NTHL1 activity and NTHL1 binding to its DNA substrate (PubMed:9927729).BIOPHYSICOCHEMICAL PROPERTIES Interacts with YBX1 (By similarity) (PubMed:11287425). Interacts with ERCC5/XPG; the interaction stimulates NTHL1 activity and NTHL1 binding to its DNA substrate (PubMed:9927729).SUBCELLULAR LOCATION Widely expressed with highest levels in heart and lowest levels in lung and liver.DEVELOPMENTAL STAGE Expression levels are regulated during the cell cycle with increased levels during early and mid S-phase.PTM Ubiquitinated by TRIM26; leading to proteasomal degradation.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the Nth/MutY family.SEQUENCE CAUTION Extended N-terminus.
crossReference
databaseName UniProt
dbId 60538
description
  • recommendedName: fullName evidence="2"Endonuclease III-like protein 1 shortName: hNTH1 ecNumber evidence="2 27"3.2.2.- ecNumber evidence="2 27"4.2.99.18 alternativeName: fullName evidence="2"Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase shortName evidence="2"DNA glycosylase/AP lyase
displayName UniProt:P78549 NTHL1
geneName
  • NTHL1
  • NTH1
  • OCTS3
identifier P78549
isSequenceChanged false
keyword
  • 3D-structure
  • 4Fe-4S
  • Alternative initiation
  • Direct protein sequencing
  • DNA damage
  • DNA repair
  • Glycosidase
  • Hydrolase
  • Iron
  • Iron-sulfur
  • Lyase
  • Metal-binding
  • Mitochondrion
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Transit peptide
  • Ubl conjugation
modified [InstanceEdit:9948485] Weiser, Joel, 2025-05-21
moleculeType Protein
name
  • NTHL1
otherIdentifier
  • 11721157_at
  • 11761575_at
  • 16822953
  • 209731_PM_at
  • 209731_at
  • 3676396
  • 3676397
  • 3676398
  • 3676399
  • 3676400
  • 3676401
  • 3676402
  • 3676403
  • 3676404
  • 3676405
  • 3676406
  • 3676407
  • 3676408
  • 3676409
  • 3676410
  • 3676411
  • 3676412
  • 40325_at
  • 4913
  • 7998692
  • A_23_P88904
  • GE59456
  • GO:0000703
  • GO:0003677
  • GO:0003684
  • GO:0003690
  • GO:0003824
  • GO:0003906
  • GO:0004519
  • GO:0005515
  • GO:0005634
  • GO:0005654
  • GO:0005739
  • GO:0006281
  • GO:0006284
  • GO:0006285
  • GO:0006289
  • GO:0006950
  • GO:0006974
  • GO:0008534
  • GO:0016787
  • GO:0016798
  • GO:0016829
  • GO:0019104
  • GO:0045008
  • GO:0046872
  • GO:0051536
  • GO:0051539
  • GO:0055086
  • GO:0140078
  • GO:0140097
  • GO:1901135
  • HMNXSV003054229
  • ILMN_2227968
  • PH_hs_0004048
  • TC16000772.hg
  • U79718_at
  • g1800270_3p_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • NTH_HUMAN
  • Q1MVR1
  • Q99566
  • Q99794
  • Q9BPX2
sequenceLength 304
species [Species:48887] Homo sapiens
stId uniprot:P78549
url http://purl.uniprot.org/uniprot/P78549
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