Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SMUG1 contributors: mct/npt - updated : 05-11-2014
HGNC name single-strand-selective monofunctional uracil-DNA glycosylase 1
HGNC id 17148
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to rattus Smug1
ortholog to murine Smug1
Homologene
FAMILY Family 3 of the uracil DNA glycosylase (UDG) superfamily
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus,nucleoplasm
intracellular,nucleus,nucleolus
basic FUNCTION
  • excise uracil from DNA and acting as a uracil DNA N-glycosylase
  • removing uracil from single- and double-stranded DNA in nuclear chromatin, thus contributing to base excision repair
  • coordinate the initial steps of base excision repair by distinct mechanisms and may be more important in repair of deaminated cytosine (U:G) in non-replicating chromatin
  • showed broader substrate specificity than UNG2
  • acting as a broad specificity backup
  • remove some oxidized pyrimidines, suggesting a role in the repair of DNA oxidation damage
  • in the presence of Mg2+ and monovalent salts, SMUG1 is essentially double strand-specific
  • base excision repair enzyme that removes uracil and oxidised pyrimidines from DNA
  • UNG and SMUG1 are the two uracil-DNA glycosylases (UDGs) most likely to combat the genomic incorporation of uracil and 5-Fluorouracil (5-FU) during replication
  • has a role in the resumption of replication following 5-FU treatment
  • CELLULAR PROCESS nucleotide, repair, base excision repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to single-stranded DNA
    RNA
    small molecule
    protein
  • interacts with DKC1 and colocalizes with DKC1 in nucleoli and Cajal bodies
  • cell & other
    REGULATION
    induced by by physiologic concentrations of Mg(2+)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to severe age-related macular degeneration (AMD)
    Variant & Polymorphism other T allele of the g.4235T>C polymorphism and the A allele of the c.-31A>G polymorphism of the SMUG1 gene associated with an increased risk of AMD severity
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS