Human Gene SMUG1 (uc009znf.2) Description and Page Index
Description: Homo sapiens single-strand-selective monofunctional uracil-DNA glycosylase 1 (SMUG1), transcript variant 3, mRNA. RefSeq Summary (NM_001243788): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.155206.1, SRR1803617.196755.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## Transcript (Including UTRs) Position: hg19 chr12:54,574,142-54,582,778 Size: 8,637 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr12:54,575,880-54,577,724 Size: 1,845 Coding Exon Count: 2
ID:SMUG1_HUMAN DESCRIPTION: RecName: Full=Single-strand selective monofunctional uracil DNA glycosylase; EC=3.2.2.-; FUNCTION: Responsible for recognizing base lesions in the genome and initiating base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA and has a preference for single-stranded DNA substrates. The activity is greater against mismatches (U/G) than against matches (U/A). Excised 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) and other oxidized damage. The activity is damage specificity and salt concentration-dependent. The general order of the preference for ssDNA and dsDNA is the following: ssDNA > dsDNA (G pair) = dsDNA (A pair) at the low salt concentration. At the high concentration dsDNA (G pair) > dsDNA (A pair) > ssDNA. INTERACTION: Q93062:RBPMS; NbExp=2; IntAct=EBI-749970, EBI-740322; SUBCELLULAR LOCATION: Nucleus. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/smug1/";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SMUG1 CDC HuGE Published Literature: SMUG1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q53HV7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.