• Gene id: 23583

Gene Summary

• Gene Symbol: SMUG1   Gene   UCSC   Ensembl
• Aliases: FDG, HMUDG, UNG3
• Gene name: single-strand-selective monofunctional uracil-DNA glycosylase 1
• Alternate names: single-strand selective monofunctional uracil DNA glycosylase,
• Gene location: 12q13.13 (54188993: 54121273)     Exons: 11     NC_000012.12
• Gene summary(Entrez): This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the
• OMIM: 607753

Protein Summary

• Protein general information: Q53HV7  
  • Name: Single strand selective monofunctional uracil DNA glycosylase (EC 3.2.2. )
  • Length: 270  
  • Mass: 29862
• Sequence:

  MPQAFLLGSIHEPAGALMEPQPCPGSLAESFLEEELRLNAELSQLQFSEPVGIIYNPVEYAWEPHRNYVTRYCQG
  PKEVLFLGMNPGPFGMAQTGVPFGEVSMVRDWLGIVGPVLTPPQEHPKRPVLGLECPQSEVSGARFWGFFRNLCG
  QPEVFFHHCFVHNLCPLLFLAPSGRNLTPAELPAKQREQLLGICDAALCRQVQLLGVRLVVGVGRLAEQRARRAL
  AGLMPEVQVEGLLHPSPRNPQANKGWEAVAKERLNELGLLPLLLK

• Structural information:
  • Interpro: IPR039134  IPR036895  
  • STRING: ENSP00000424191
• Other Databases: GeneCards:  SMUG1  Malacards:  SMUG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006284	base-excision repair	IDA	biological process
GO:0004844	uracil DNA N-glycosylase activity	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0017065	single-strand selective uracil DNA N-glycosylase activity	IDA	molecular function
GO:0017065	single-strand selective uracil DNA N-glycosylase activity	IDA	molecular function
GO:0019104	DNA N-glycosylase activity	IDA	molecular function
GO:0000703	oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	IBA	molecular function
GO:0004844	uracil DNA N-glycosylase activity	IBA	molecular function
GO:0006284	base-excision repair	IEA	biological process
GO:0017065	single-strand selective uracil DNA N-glycosylase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
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:0017065	single-strand selective uracil DNA N-glycosylase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017065	single-strand selective uracil DNA N-glycosylase activity	IEA	molecular function
GO:0006284	base-excision repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0004844	uracil DNA N-glycosylase activity	IEA	molecular function
GO:0000703	oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03410	Base excision repair

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)