Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SMUG1 Gene

Aliases for SMUG1 Gene

  • Single-Strand-Selective Monofunctional Uracil-DNA Glycosylase 1 2 3 5
  • Single-Strand Selective Monofunctional Uracil DNA Glycosylase 3
  • EC 3.2.2.- 4
  • EC 3.2.2 61
  • 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 Rectosigmoid Junction Neoplasm and Baastrup's Syndrome. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Depyrimidination. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G054140 1 ENCODE dbSUPER 19.3 +47.3 47337 2.4 BCOR CTCF KLF1 TEAD4 KLF17 ZMYM3 ZNF121 ZNF600 PRDM10 MAZ FLJ12825 SMUG1 HOXC5 MIR196A2 HOXC6 HOXC-AS3 HOXC10 MIR615 HOXC4 HOXC8
GH12G054130 1.2 ENCODE dbSUPER 11.8 +54.2 54245 8.3 FOXA2 ZSCAN4 KLF17 FEZF1 RAD21 RARA ZNF121 MIXL1 DEK EGR2 FLJ12825 TARBP2 SMUG1 MIR615 HOXC4 HOXC5 HOXC6 ENSG00000260470 HOXC8 HOXC-AS1
GH12G054051 1.1 ENCODE 10.9 +135.5 135491 4.8 HDGF PKNOX1 ARNT WRNIP1 SIN3A FEZF1 ZNF2 ZNF143 ZNF263 SP3 CBX5 HOTAIR SP1 ENSG00000258344 HOXC4 HOXC5 HOXC6 MIR196A2 HOXC-AS3 HOXC10
GH12G054077 0.6 ENCODE 16.5 +111.2 111185 1.0 ZNF121 SUZ12 ZSCAN5C CBX2 IRF1 PRDM1 EZH2 RBFOX2 SMUG1 MIR615 HOXC4 HOXC5 HOXC6 LOC102724030 MIR196A2 HOXC-AS3 HOXC10 HOTAIR
GH12G054160 1 ENCODE 8.1 +27.5 27520 1.9 HDGF PKNOX1 ATF1 ZNF133 ZNF2 ZNF121 GLIS2 ZNF263 SP3 CAVIN1 ZNF740 ENSG00000258344 LOC100652999 AAAS TARBP2 SP1 MAP3K12 CBX5 ENSG00000257596 SMUG1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000052314 294 1401 PKNOX1 ATF1 CREB3L1 ARNT ARID4B SIN3A ETS1 ZNF766 GLIS2 GATA2

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

Selected DME Specific Peptides for SMUG1 Gene

Q53HV7:
  • CDAALCRQVQLLGVRLVVGVGR
  • VLFLGMNPGPFGMAQTGVPFGEV
  • AEQRARRALA
  • YVTRYCQGPK
  • ECPQSEVSGARFW

Post-translational modifications for SMUG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SMUG1
  • Cloud-Clone Corp. 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

Q53HV7

UniProtKB/Swiss-Prot:

SMUG1_HUMAN :
  • Belongs to the uracil-DNA glycosylase (UDG) superfamily. SMUG1 family.
Family:
  • Belongs to the uracil-DNA glycosylase (UDG) superfamily. SMUG1 family.
genes like me logo Genes that share domains with SMUG1: view

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 IBA --
GO:0003677 DNA binding IEA --
GO:0004844 uracil DNA N-glycosylase activity IDA 12718543
GO:0005515 protein binding IPI 16189514
GO:0016787 hydrolase activity IEA --
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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMUG1 gene
Compartment Confidence
nucleus 5
extracellular 4
plasma membrane 2
mitochondrion 2
cytosol 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SMUG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 12161446
genes like me logo Genes that share ontologies with SMUG1: view

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:0006281 DNA repair IEA --
GO:0006284 base-excision repair IDA 12161446
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0008152 metabolic process IEA --
GO:0045008 depyrimidination TAS --
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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SMUG1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SMUG1 Gene:

SMUG1

SOURCE GeneReport for Unigene cluster for SMUG1 Gene:

Hs.632721

Evidence on tissue expression from TISSUES for SMUG1 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Intestine(4.6)
  • Muscle(4.6)
  • Lymph node(3.7)
  • Lung(3.4)
  • Heart(3.1)
  • Thyroid gland(3.1)
  • Blood(2.9)
  • Adrenal gland(2.8)
  • Bone marrow(2.8)
  • Skin(2.7)
  • Stomach(2.6)
  • Kidney(2.5)
  • Pancreas(2.5)
  • Gall bladder(2.4)
  • Spleen(2.4)
  • Bone(2.3)
genes like me logo Genes that share expression patterns with SMUG1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia SMUG1 34 35
  • 87.83 (n)
cow
(Bos Taurus)
Mammalia SMUG1 34 35
  • 86.95 (n)
rat
(Rattus norvegicus)
Mammalia Smug1 34
  • 86.22 (n)
mouse
(Mus musculus)
Mammalia Smug1 34 16 35
  • 86.2 (n)
oppossum
(Monodelphis domestica)
Mammalia SMUG1 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMUG1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMUG1 34 35
  • 66.52 (n)
lizard
(Anolis carolinensis)
Reptilia SMUG1 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smug1 34
  • 62.34 (n)
Str.17374 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33698 34
zebrafish
(Danio rerio)
Actinopterygii LOC570901 34
  • 63.23 (n)
SMUG1 35
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002876 34
  • 50.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5285 36 34 35
  • 50.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
Species where no ortholog for SMUG1 was found in the sources mined by GeneCards:
  • 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
rs193921126 Uncertain significance 54,183,651(-) GGTAA(A/T)GGGTT intron-variant
rs1000034681 -- 54,188,932(+) ATTCC(A/C)AGCCC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000330330 -- 54,174,331(+) TGAGA(A/G)GGAGC intron-variant
rs1000428458 -- 54,188,607(+) ATTCA(C/G)AGCAA intron-variant, upstream-variant-2KB
rs1000554730 -- 54,174,853(+) TGTTT(A/T)GTACT intron-variant

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

Variant ID Type Subtype PubMed ID
esv3629549 CNV loss 21293372
nsv509467 CNV insertion 20534489
nsv832418 CNV loss 17160897
nsv832419 CNV loss 17160897
nsv832420 CNV loss 17160897

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMUG1

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

Disorders for SMUG1 Gene

MalaCards: The human disease database

(145) MalaCards diseases for SMUG1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
rectosigmoid junction neoplasm
  • neoplasm of rectosigmoid junction
baastrup's syndrome
  • baastrup syndrome
extratemporal epilepsy
bone lymphoma
  • lymphoma of bone
chest wall lipoma
  • lipoma of the chest wall
- 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 22 64
  2. 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 22 46 64
  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 22 64
  4. 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 22 64
  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 64

Products for SMUG1 Gene

Sources for SMUG1 Gene

Content
Loading form....