Aliases for SMUG1 Gene
External Ids for SMUG1 Gene
Previous GeneCards Identifiers for SMUG1 Gene
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 variants. [provided by RefSeq, Aug 2011]
GeneCards Summary for SMUG1 Gene
SMUG1 (Single-Strand-Selective Monofunctional Uracil-DNA Glycosylase 1) is a Protein Coding gene. Diseases associated with SMUG1 include Immunodeficiency With Hyper-Igm, Type 5. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Cleavage of the damaged pyrimidine. Gene Ontology (GO) annotations related to this gene include DNA N-glycosylase activity and oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity.
UniProtKB/Swiss-Prot Summary for SMUG1 Gene
Recognizes base lesions in the genome and initiates base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA with a preference for single-stranded DNA substrates. The activity is greater toward mismatches (U/G) compared to matches (U/A). Excises uracil (U), 5-formyluracil (fU) and uracil derivatives bearing an oxidized group at C5 [5-hydroxyuracil (hoU) and 5-hydroxymethyluracil (hmU)] in ssDNA and dsDNA, but not analogous cytosine derivatives (5-hydroxycytosine and 5-formylcytosine), nor other oxidized bases. The activity is damage-specific and salt-dependent. The substrate preference is the following: ssDNA > dsDNA (G pair) = dsDNA (A pair) at low salt concentration, and dsDNA (G pair) > dsDNA (A pair) > ssDNA at high salt concentration.