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FLASH GENE
Symbol SMUG1 contributors: mct/npt - updated : 05-11-2014
HGNC name single-strand-selective monofunctional uracil-DNA glycosylase 1
HGNC id 17148
Location 12q13.13      Physical location : 54.575.251 - 54.582.757
Synonym symbol(s) FDG, HMUDG, UNG3, MGC104370
EC.number 3.2.2.-
DNA
TYPE functioning gene
STRUCTURE 8.54 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
HOXC13 12q13.3 homeo box C13 HOXC12 12q13.3 homeo box C12 HOXC11 12q13.3 homeo box C11 HOXC10 12q13.3 homeo box C10 HOXC9 12q13.3 homeo box C9 HOXC8 12q13.3 homeo box C8 HOXC4 12q13.3 homeo box C4 HOXC6 12q13.3 homeo box C6 HOXC5 12q13.3 homeo box C5 LOC387863 12 LOC387863 SMUG1 12q13.11-q13.3 single-strand selective monofunctional uracil DNA glycosylase CBX5 12q12 chromobox homolog 5 (HP1 alpha homolog, Drosophila) HNRPA1 12q13.1 heterogeneous nuclear ribonucleoprotein A1 NFE2 12q13.1-q13.2 nuclear factor (erythroid-derived 2), 45kDa COPZ1 12q13.2-q13.3 coatomer protein complex, subunit zeta 1 GPR84 12q13.13 G protein-coupled receptor 84 ZNF385 12q13.13 zinc finger protein 385
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 2719 29.8 270 - 2003 12820976
3 - 2632 - 270 - 2003 12820976
2 - 2716 - 270 - 2003 12820976
4 - 685 - 177 - 2003 12820976
6 - 1046 - 177 - 2003 12820976
5 - 965 - 177 - 2003 12820976
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemuteruscervix highly
 female systemovary  highly
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
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