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] See more...

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 4
  • HMUDG 2 3
  • UNG3 2 3
  • FDG 2 3
  • EC 3.2.2.- 4
  • EC 3.2.2 51
  • SMUG1 5

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 Sigmoid Neoplasm. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Recognition and association of DNA glycosylase with site containing an affected 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.

Gene Wiki entry for SMUG1 Gene

Additional gene information for SMUG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMUG1 Gene

Genomics for SMUG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMUG1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMUG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMUG1

Top Transcription factor binding sites by QIAGEN in the SMUG1 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • NF-1
  • NF-1/L
  • p53

Genomic Locations for SMUG1 Gene

Genomic Locations for SMUG1 Gene
chr12:54,121,274-54,189,008
(GRCh38/hg38)
Size:
67,735 bases
Orientation:
Minus strand
chr12:54,558,529-54,582,778
(GRCh37/hg19)
Size:
24,250 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

Domains & Families for SMUG1 Gene

Gene Families for SMUG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SMUG1 Gene

InterPro:
Blocks:
  • Uracil-DNA glycosylase superfamily
ProtoNet:

Suggested Antigen Peptide Sequences for SMUG1 Gene

GenScript: Design optimal peptide antigens:
  • Single-strand selective monofunctional uracil DNA glycosylase (SMUG1_HUMAN)

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

Phenotypes From GWAS Catalog 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 21873635
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:
  • Smug1 Smug1<tm1a(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for SMUG1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMUG1

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
cytosol 4
extracellular 3
mitochondrion 2
plasma membrane 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMUG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005730 nucleolus IDA 12161446
GO:0005829 cytosol IDA --
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
  • DNA Repair Mechanisms

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 IEA,IDA 12161446
GO:0006974 cellular response to DNA damage stimulus 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

(1) Drugs for SMUG1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) 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

mRNA/cDNA for SMUG1 Gene

32 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMUG1

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

Expression for SMUG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SMUG1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMUG1

SOURCE GeneReport for Unigene cluster for SMUG1 Gene:

Hs.632721

Evidence on tissue expression from TISSUES for SMUG1 Gene

  • Nervous system(4.7)
  • Intestine(4.5)
  • Liver(4.4)
  • Muscle(4.3)
  • Skin(2.3)
  • Kidney(2.1)
  • Blood(2.1)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with SMUG1: view

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 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SMUG1 30 31
  • 87.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SMUG1 30 31
  • 86.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Smug1 30
  • 86.22 (n)
Mouse
(Mus musculus)
Mammalia Smug1 30 17 31
  • 86.2 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SMUG1 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SMUG1 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SMUG1 30 31
  • 66.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SMUG1 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia smug1 30
  • 62.34 (n)
Str.17374 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33698 30
Zebrafish
(Danio rerio)
Actinopterygii LOC570901 30
  • 63.23 (n)
SMUG1 31
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002876 30
  • 50.21 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5285 30 31 32
  • 50.08 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToOne
Species where no ortholog for SMUG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SMUG1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMUG1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
776713 Benign: not provided 54,183,897(-) C/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs193921126 Uncertain Significance: Malignant tumor of prostate 54,183,651(-) T/A INTRON_VARIANT
rs2233920 - p.Gly15Val
rs3136389 - p.Arg105Trp

Additional dbSNP identifiers (rs#s) for SMUG1 Gene

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)

Additional Variant Information for SMUG1 Gene

Human Gene Mutation Database (HGMD)
SMUG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMUG1

SNP Genotyping and Copy Number Assay Products

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

Disorders for SMUG1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
rectosigmoid junction neoplasm
  • neoplasm of rectosigmoid junction
sigmoid neoplasm
  • neoplasm of sigmoid colon
immunodeficiency with hyper-igm, type 5
  • higm5
- elite association - COSMIC cancer census association via MalaCards
Search SMUG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMUG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 KA … Verdine GL (Current biology : CB 1999) 2 3 4 23
  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 JB (The American journal of clinical nutrition 2009) 3 23 41
  3. Mutational analysis of the damage-recognition and catalytic mechanism of human SMUG1 DNA glycosylase. (PMID: 15466595) Matsubara M … Ide H (Nucleic acids research 2004) 3 4 23
  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 23
  5. Definitive identification of mammalian 5-hydroxymethyluracil DNA N-glycosylase activity as SMUG1. (PMID: 11526119) Boorstein RJ … Teebor GW (The Journal of biological chemistry 2001) 2 3 4

Products for SMUG1 Gene

Sources for SMUG1 Gene