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Aliases for SMUG1 Gene

Aliases for SMUG1 Gene

  • Single-Strand-Selective Monofunctional Uracil-DNA Glycosylase 1 2 3
  • Single-Strand Selective Monofunctional Uracil DNA Glycosylase 3
  • EC 3.2.2.- 4
  • EC 3.2.2 63
  • HMUDG 3
  • UNG3 3
  • FDG 3

External Ids for SMUG1 Gene

Previous GeneCards Identifiers for SMUG1 Gene

  • GC12P054236
  • GC12M054687
  • GC12M054290
  • GC12M052862
  • GC12M052863
  • GC12M052864
  • GC12M054575
  • GC12M051612

Summaries for SMUG1 Gene

Entrez Gene Summary 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 familial colorectal cancer. Among its related pathways are Chks in Checkpoint Regulation and DNA Repair. GO annotations related to this gene include DNA N-glycosylase activity and single-strand selective uracil DNA N-glycosylase activity.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for SMUG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMUG1 Gene

Genomics for SMUG1 Gene

Regulatory Elements for SMUG1 Gene

Genomic Location for SMUG1 Gene

Start:
54,164,745 bp from pter
End:
54,188,994 bp from pter
Size:
24,250 bases
Orientation:
Minus strand

Genomic View for SMUG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMUG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMUG1 Gene

Proteins for SMUG1 Gene

  • Protein details for SMUG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53HV7-SMUG1_HUMAN
    Recommended name:
    Single-strand selective monofunctional uracil DNA glycosylase
    Protein Accession:
    Q53HV7
    Secondary Accessions:
    • A8K2K9
    • O95862
    • Q0D2M0
    • Q8NB71
    • Q9BWC8

    Protein attributes for SMUG1 Gene

    Size:
    270 amino acids
    Molecular mass:
    29862 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SMUG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMUG1 Gene

Proteomics data for SMUG1 Gene at MOPED

Post-translational modifications for SMUG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains for SMUG1 Gene

Protein Domains for SMUG1 Gene

Suggested Antigen Peptide Sequences for SMUG1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SMUG1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SMUG1 Gene

Function for SMUG1 Gene

Molecular function for SMUG1 Gene

UniProtKB/Swiss-Prot Function: 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.

Enzyme Numbers (IUBMB) for SMUG1 Gene

Gene Ontology (GO) - Molecular Function for SMUG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000703 oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity IEA --
GO:0003677 DNA binding IEA --
GO:0004844 uracil DNA N-glycosylase activity IDA 12718543
GO:0005515 protein binding IPI 16189514
GO:0017065 single-strand selective uracil DNA N-glycosylase activity IDA 12161446
genes like me logo Genes that share ontologies with SMUG1: view
genes like me logo Genes that share phenotypes with SMUG1: view

Animal Model Products

CRISPR Products

miRNA for SMUG1 Gene

miRTarBase miRNAs that target SMUG1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for SMUG1 Gene

Localization for SMUG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMUG1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMUG1 Gene COMPARTMENTS Subcellular localization image for SMUG1 gene
Compartment Confidence
nucleus 5
extracellular 3
plasma membrane 2
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SMUG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 12161446
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with SMUG1: view

Pathways for SMUG1 Gene

genes like me logo Genes that share pathways with SMUG1: view

Pathways by source for SMUG1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SMUG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000737 DNA catabolic process, endonucleolytic IEA --
GO:0006281 DNA repair TAS --
GO:0006284 base-excision repair TAS --
GO:0006285 base-excision repair, AP site formation TAS --
GO:0045008 depyrimidination TAS --
genes like me logo Genes that share ontologies with SMUG1: view

Compounds for SMUG1 Gene

(6) Novoseek inferred chemical compound relationships for SMUG1 Gene

Compound -log(P) Hits PubMed IDs
5-formyluracil 94 12
5-hydroxymethyluracil 93.5 8
5-hydroxyuracil 91.5 7
cytosine 72.3 3
pyrimidine 41.1 2
genes like me logo Genes that share compounds with SMUG1: view

Transcripts for SMUG1 Gene

Unigene Clusters for SMUG1 Gene

Single-strand-selective monofunctional uracil-DNA glycosylase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMUG1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMUG1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b ·
SP1: - - - - -
SP2: - - - - - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - -
SP12: - - - -
SP13: - - - - - -
SP14: - - -
SP15: - - - -
SP16: - -
SP17: - - - - - - - - - - - - - - - - -
SP18: -
SP19: - - -
SP20: - - - - - - - - -
SP21: - - - - - -
SP22: - - - - - -
SP23: - -
SP24:
SP25: - -
SP26: - - - - - -
SP27: - -

ExUns: 9c · 9d · 9e · 9f · 9g · 9h · 9i · 9j ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3:
SP4: - - - - - - - -
SP5:
SP6: - - - - - - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24: - - - - - -
SP25:
SP26:
SP27:

Relevant External Links for SMUG1 Gene

GeneLoc Exon Structure for
SMUG1
ECgene alternative splicing isoforms for
SMUG1

Expression for SMUG1 Gene

mRNA expression in normal human tissues for SMUG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMUG1 Gene

SOURCE GeneReport for Unigene cluster for SMUG1 Gene Hs.632721

genes like me logo Genes that share expressions with SMUG1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMUG1 Gene

Orthologs for SMUG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMUG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMUG1 35
  • 99.63 (n)
  • 99.63 (a)
SMUG1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMUG1 35
  • 86.95 (n)
  • 88.76 (a)
SMUG1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMUG1 35
  • 87.83 (n)
  • 87.55 (a)
SMUG1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smug1 35
  • 86.2 (n)
  • 90.23 (a)
Smug1 16
Smug1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMUG1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMUG1 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smug1 35
  • 86.22 (n)
  • 88.98 (a)
chicken
(Gallus gallus)
Aves SMUG1 35
  • 66.52 (n)
  • 67.52 (a)
SMUG1 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMUG1 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33698 35
tropical clawed frog
(Silurana tropicalis)
Amphibia smug1 35
  • 62.34 (n)
  • 66.67 (a)
Str.17374 35
zebrafish
(Danio rerio)
Actinopterygii LOC570901 35
  • 63.23 (n)
  • 63.95 (a)
SMUG1 36
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002876 35
  • 50.21 (n)
  • 44.86 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5285 35
  • 50.08 (n)
  • 43.89 (a)
CG5285 36
  • 38 (a)
OneToOne
CG5285 37
  • 43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for SMUG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SMUG1 Gene

ENSEMBL:
Gene Tree for SMUG1 (if available)
TreeFam:
Gene Tree for SMUG1 (if available)

Paralogs for SMUG1 Gene

Pseudogenes.org Pseudogenes for SMUG1 Gene

genes like me logo Genes that share paralogs with SMUG1: view

No data available for Paralogs for SMUG1 Gene

Variants for SMUG1 Gene

Sequence variations from dbSNP and Humsavar for SMUG1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs971 -- 54,181,674(+) AAAGG(C/T)AACTG utr-variant-3-prime, intron-variant
rs1043202 -- 54,182,178(-) CCGTA(A/T)CCCAC reference, missense, intron-variant
rs2233919 -- 54,183,934(-) TGCCC(C/G/T)AGGCT reference, missense, stop-gained, nc-transcript-variant
rs2233920 - 54,183,897(-) TGCAG(G/T)TGCCC reference, missense, nc-transcript-variant
rs2233921 -- 54,182,016(-) TCCTG(G/T)ACTGG utr-variant-3-prime, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMUG1 Gene

Variant ID Type Subtype PubMed ID
nsv832418 CNV Loss 17160897
nsv832419 CNV Loss 17160897
nsv832420 CNV Loss 17160897
nsv509467 CNV Insertion 20534489

Relevant External Links for SMUG1 Gene

HapMap Linkage Disequilibrium report
SMUG1
Human Gene Mutation Database (HGMD)
SMUG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMUG1 Gene

Disorders for SMUG1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SMUG1 Gene including...

Search for SMUG1 Gene in MalaCards »

Relevant External Links for SMUG1

Genetic Association Database (GAD)
SMUG1
Human Genome Epidemiology (HuGE) Navigator
SMUG1
genes like me logo Genes that share disorders with SMUG1: view

No data available for UniProtKB/Swiss-Prot for SMUG1 Gene

Publications for SMUG1 Gene

  1. Identification of a new uracil-DNA glycosylase family by expression cloning using synthetic inhibitors. (PMID: 10074426) Haushalter K.A. … Verdine G.L. (Curr. Biol. 1999) 2 3 4 23
  2. Mammalian 5-formyluracil-DNA glycosylase. 2. Role of SMUG1 uracil-DNA glycosylase in repair of 5-formyluracil and other oxidized and deaminated base lesions. (PMID: 12718543) Masaoka A. … Ide H. (Biochemistry 2003) 3 4 23
  3. Mutational analysis of the damage-recognition and catalytic mechanism of human SMUG1 DNA glycosylase. (PMID: 15466595) Matsubara M. … Ide H. (Nucleic Acids Res. 2004) 3 4 23
  4. Polymorphisms in uracil-processing genes, but not one-carbon nutrients, are associated with altered DNA uracil concentrations in an urban Puerto Rican population. (PMID: 19403629) Chanson A. … Mason J.B. (Am. J. Clin. Nutr. 2009) 3 23 48
  5. Definitive identification of mammalian 5-hydroxymethyluracil DNA N- glycosylase activity as SMUG1. (PMID: 11526119) Boorstein R.J. … Teebor G.W. (J. Biol. Chem. 2001) 2 3 4

Products for SMUG1 Gene

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