• Gene id: 4913

Gene Summary

• Gene Symbol: NTHL1   Gene   UCSC   Ensembl
• Aliases: FAP3, NTH1, OCTS3, hNTH1
• Gene name: nth like DNA glycosylase 1
• Alternate names: endonuclease III-like protein 1, DNA glycoslyase/AP lyase, DNA glycosylase/AP lyase, bifunctional DNA N-glycoslyase/DNA-(apurinic or apyrimidinic site) lyase, bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase, nth endonuclease III-like 1,
• Gene location: 16p13.3 (2047833: 2039819)     Exons: 6     NC_000016.10
• Gene summary(Entrez): 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/apyrimid
• OMIM: 602656

Protein Summary

• Protein general information: P78549  
  • Name: Endonuclease III like protein 1 (hNTH1) (EC 3.2.2. ) (EC 4.2.99.18) (Bifunctional DNA N glycosylase/DNA (apurinic or apyrimidinic site) lyase) (DNA glycosylase/AP lyase)
  • Length: 312  
  • Mass: 34390
  • Tissue specificity: Widely expressed with highest levels in heart and lowest levels in lung and liver. {ECO
• Sequence:

  MCSPQESGMTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEK
  GEGAEPLKVPVWEPQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGA
  MQRLRARGLTVDSILQTDDATLGKLIYPVGFWRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLA
  MAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHAC
  LNQALCPAAQGL

• Structural information:
  • Protein Domains: (199..22-)
    (/note="HhH-)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03183"-)
  • Interpro: IPR011257  IPR004036  IPR003651  IPR003265  IPR000445   IPR023170  IPR030841  
  • Prosite: PS01155
  • CDD: cd00056
  • STRING: ENSP00000219066
• Other Databases: GeneCards:  NTHL1  Malacards:  NTHL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000703	oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	IBA	molecular function
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006285	base-excision repair, AP site formation	IBA	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	IBA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006284	base-excision repair	IEA	biological process
GO:0019104	DNA N-glycosylase activity	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006285	base-excision repair, AP site formation	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004519	endonuclease activity	TAS	molecular function
GO:0140078	class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA	molecular function
GO:0140078	class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	molecular function
GO:0000703	oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0000703	oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0000703	oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0045008	depyrimidination	TAS	biological process
GO:0045008	depyrimidination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0008534	oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS	molecular function
GO:0019104	DNA N-glycosylase activity	IEA	molecular function
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000703	oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006285	base-excision repair, AP site formation	IEA	biological process
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	molecular function
GO:0019104	DNA N-glycosylase activity	IDA	molecular function
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	IDA	biological process
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0006285	base-excision repair, AP site formation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03410	Base excision repair

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq