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Aliases for SMUG1 Gene

Aliases for SMUG1 Gene

  • Single-Strand-Selective Monofunctional Uracil-DNA Glycosylase 1 2 3 5
  • 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
  • GC12M054165

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 Baastrup's Syndrome and Prostate Neuroendocrine Neoplasm. Among its related pathways are Chks in Checkpoint Regulation and DNA Double-Strand Break Repair. GO annotations related to this gene include DNA N-glycosylase activity and oxidized pyrimidine nucleobase lesion 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

Enhancers for SMUG1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SMUG1 on UCSC Golden Path with GeneCards custom track

Promoters for SMUG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMUG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMUG1 Gene

Chromosome:
12
Start:
54,121,277 bp from pter
End:
54,189,008 bp from pter
Size:
67,732 bases
Orientation:
Minus strand

Genomic View for SMUG1 Gene

Genes around SMUG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMUG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

  • Abcam antibodies for SMUG1

Domains & Families for SMUG1 Gene

Gene Families 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 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:0017065 single-strand selective uracil DNA N-glycosylase activity IDA,TAS --
GO:0019104 DNA N-glycosylase activity IDA 11526119
genes like me logo Genes that share ontologies with SMUG1: view
genes like me logo Genes that share phenotypes with SMUG1: view

Animal Models for SMUG1 Gene

MGI Knock Outs for SMUG1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SMUG1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
cytosol 2
mitochondrion 2
plasma membrane 2
cytoskeleton 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for SMUG1 Gene

Pathways & Interactions for SMUG1 Gene

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

Pathways by source for SMUG1 Gene

1 KEGG pathway for SMUG1 Gene
1 Qiagen pathway for SMUG1 Gene

Gene Ontology (GO) - Biological Process for SMUG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006284 base-excision repair IDA,TAS 12161446
genes like me logo Genes that share ontologies with SMUG1: view

No data available for SIGNOR curated interactions for SMUG1 Gene

Drugs & Compounds for SMUG1 Gene

(6) Additional Compounds for SMUG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

Protein differential expression in normal tissues from HIPED for SMUG1 Gene

This gene is overexpressed in Skin (22.0), Ovary (12.7), and Retina (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SMUG1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia SMUG1 35
  • 99.63 (n)
  • 99.63 (a)
SMUG1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smug1 35
  • 86.22 (n)
  • 88.98 (a)
oppossum
(Monodelphis domestica)
Mammalia SMUG1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMUG1 36
  • 72 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia smug1 35
  • 62.34 (n)
  • 66.67 (a)
Str.17374 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.33698 35
zebrafish
(Danio rerio)
Actinopterygii LOC570901 35
  • 63.23 (n)
  • 63.95 (a)
SMUG1 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5285 37
  • 43 (a)
CG5285 35
  • 50.08 (n)
  • 43.89 (a)
CG5285 36
  • 38 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002876 35
  • 50.21 (n)
  • 44.86 (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
rs2233920 - 54,183,897(-) TGCAG(G/T)TGCCC nc-transcript-variant, reference, missense
rs3136389 - 54,182,596(-) TGGTC(C/T)GGGAC nc-transcript-variant, reference, missense
rs1994355 -- 54,177,413(-) GAAAT(G/T)GAACA intron-variant
rs1994356 -- 54,177,381(-) GTGTT(A/G)GACAA intron-variant
rs7133717 -- 54,175,808(+) CACAC(A/C)CAGCA 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

Variation tolerance for SMUG1 Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMUG1 Gene

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

(102) MalaCards diseases for SMUG1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
baastrup's syndrome
  • baastrup syndrome
prostate neuroendocrine neoplasm
  • neuroendocrine tumor of the prostate
uterine corpus sarcoma
  • sarcoma of corpus uteri
chest wall lipoma
  • lipoma of the chest wall
small intestine leiomyoma
  • leiomyoma, small bowel
- elite association - COSMIC cancer census association via MalaCards
Search SMUG1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SMUG1

Genetic Association Database (GAD)
SMUG1
Human Genome Epidemiology (HuGE) Navigator
SMUG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMUG1
genes like me logo Genes that share disorders with SMUG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Insights from xanthine and uracil DNA glycosylase activities of bacterial and human SMUG1: switching SMUG1 to UDG. (PMID: 18835277) Mi R. … Cao W. (J. Mol. Biol. 2009) 3 23
  3. 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
  4. Uracil-DNA glycosylases SMUG1 and UNG2 coordinate the initial steps of base excision repair by distinct mechanisms. (PMID: 17537817) Pettersen H.S. … Kavli B. (Nucleic Acids Res. 2007) 3 23
  5. Action mechanism of human SMUG1 uracil-DNA glycosylase. (PMID: 17150750) Matsubara M. … Ide H. (Nucleic Acids Symp Ser (Oxf) 2005) 3 23

Products for SMUG1 Gene

Sources for SMUG1 Gene

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