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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMUG1 Gene

protein-coding   GIFtS: 62
GCID: GC12M054575

Single-Strand-Selective Monofunctional Uracil-DNA Glycosylase...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Single-Strand-Selective Monofunctional Uracil-DNA Glycosylase 11 2     Single-Strand Selective Monofunctional Uracil DNA Glycosylase2
FDG2     EC 3.2.2.-3
HMUDG2     EC 3.2.28
UNG32     

External Ids:    HGNC: 171481   Entrez Gene: 235832   Ensembl: ENSG000001234157   OMIM: 6077535   UniProtKB: Q53HV73   

Export aliases for SMUG1 gene to outside databases

Previous GC identifers: GC12P054236 GC12M054687 GC12M054290 GC12M052862 GC12M052863 GC12M052864 GC12M051612


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 lymphatic system disease, and familial colorectal cancer, and among its related super-pathways are Removal of DNA patch containing abasic residue and Base-free sugar-phosphate removal via the single-nucleotide replacement pathway. GO annotations related to this gene include single-strand selective uracil DNA N-glycosylase activity and uracil DNA N-glycosylase activity.

UniProtKB/Swiss-Prot: SMUG1_HUMAN, Q53HV7
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

Gene Wiki entry for SMUG1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMUG1 gene promoter:
         c-Fos   NF-1   NF-1/L   AP-1   p53   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMUG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMUG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMUG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.11-q13.3   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.11-q13.3

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M054575:  view genomic region     (about GC identifiers)

Start:
54,558,529 bp from pter      End:
54,582,778 bp from pter
Size:
24,250 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SMUG1_HUMAN, Q53HV7 (See protein sequence)
Recommended Name: Single-strand selective monofunctional uracil DNA glycosylase  
Size: 270 amino acids; 29862 Da
Subcellular location: Nucleus
Secondary accessions: A8K2K9 O95862 Q0D2M0 Q8NB71 Q9BWC8
Alternative splicing: 2 isoforms:  Q53HV7-1   Q53HV7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMUG1: NX_Q53HV7

Explore proteomics data for SMUG1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q53HV7

  • 4/5 DME Specific Peptides for SMUG1 (Q53HV7) (see all 5)
     YVTRYCQGPK  AEQRARRALA  ECPQSEVSGARFW  CDAALCRQVQLLGVRLVVGVGR 

    SMUG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMUG1 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001230716.1  NP_001230717.1  NP_001230718.1  NP_001230719.1  NP_001230720.1  NP_055126.1  

    ENSEMBL proteins: 
     ENSP00000426440   ENSP00000424191   ENSP00000421206   ENSP00000421139   ENSP00000421894  
     ENSP00000338606   ENSP00000423629   ENSP00000243112   ENSP00000384828   ENSP00000425974  
     ENSP00000423083   ENSP00000423457   ENSP00000421790   ENSP00000427547   ENSP00000425426  
    Reactome Protein details: Q53HV7
    Human Recombinant Protein Products for SMUG1: 
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    Novus Biologicals SMUG1 Proteins
    Novus Biologicals SMUG1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SMUG1
    Cloud-Clone Corp. Proteins for SMUG1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA12161446

    SMUG1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for SMUG1 
    Cloud-Clone Corp. CLIAs for SMUG1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR005122 Uracil-DNA_glycosylase-like

    Graphical View of Domain Structure for InterPro Entry Q53HV7

    ProtoNet protein and cluster: Q53HV7

    1 Blocks protein domain: IPB005122 Uracil-DNA glycosylase superfamily


    SMUG1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMUG1_HUMAN, Q53HV7
    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

         Enzyme Numbers (IUBMB): EC 3.2.22 EC 3.2.2.-1

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004844uracil DNA N-glycosylase activity IDA12718543
    GO:0005515protein binding IPI16189514
    GO:0017065single-strand selective uracil DNA N-glycosylase activity IDA12161446
    GO:0019104DNA N-glycosylase activity IDA11526119
         
    SMUG1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Smug1):
     cellular  homeostasis/metabolism  mortality/aging  tumorigenesis 

    SMUG1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMUG1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMUG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMUG1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMUG1 

    miRNA
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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate SMUG1 (see all 13):
    hsa-miR-98 hsa-miR-142-3p hsa-let-7d hsa-miR-202 hsa-miR-2278 hsa-let-7c hsa-let-7i hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidSMUG1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of SMUG1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMUG1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SMUG1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Removal of DNA patch containing abasic residue0.89
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    Base excision repair0.53
    Base Excision Repair0.89
    2Base-Excision Repair, AP Site Formation
    Base-free sugar-phosphate removal via the single-nucleotide replacement pathway0.90
    Recognition and association of DNA glycosylase with site containing an affected pyrimidine0.62
    Displacement of DNA glycosylase by APE10.90
    Cleavage of the damaged pyrimidine 0.62
    Base-Excision Repair, AP Site Formation0.89
    Depyrimidination0.62
    Resolution of AP sites via the single-nucleotide replacement pathway0.83
    3Fluoropyrimidine Activity
    Fluoropyrimidine Activity0.69
    4Nucleotide Excision Repair
    DNA Repair0.46
    5Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SMUG1
        DNA Repair Mechanisms

    1 BioSystems Pathway for SMUG1
        Fluoropyrimidine Activity


    5/12        Reactome Pathways for SMUG1 (see all 12)
        Recognition and association of DNA glycosylase with site containing an affected pyrimidine
    Removal of DNA patch containing abasic residue
    DNA Repair
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway
    Base-Excision Repair, AP Site Formation

    1 PharmGKB Pathway for SMUG1
        Fluoropyrimidine Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for SMUG1):
        Base excision repair


    SMUG1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMUG1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for SMUG1 (Q53HV71, 3 ENSP000003386064) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBPMSQ930621, 3, ENSP000003401764EBI-749970,EBI-740322 I2D: score=5 STRING: ENSP00000340176
    TRIP13Q156453, ENSP000001663454I2D: score=4 STRING: ENSP00000166345
    APPP050673I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS--
    GO:0006284base-excision repair TAS--
    GO:0006285base-excision repair, AP site formation TAS--
    GO:0045008depyrimidination TAS--

    SMUG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SMUG1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMUG1

    6 Novoseek inferred chemical compound relationships for SMUG1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-formyluracil 94 15 12718542 (4), 15466595 (3), 14510466 (2), 12718543 (2) (see all 5)
    5-hydroxymethyluracil 93.5 12 12718542 (3), 15466595 (3), 11800595 (1), 14642566 (1)
    5-hydroxyuracil 91.5 10 12718542 (3), 15466595 (3), 14510466 (1)
    cytosine 72.3 3 17537817 (3)
    pyrimidine 41.1 2 14642566 (1), 15466595 (1)
    hydrogen 21.7 2 15466595 (1)

    Search CenterWatch for drugs/clinical trials and news about SMUG1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMUG1 gene (6 alternative transcripts): 
    NM_001243787.1  NM_001243788.1  NM_001243789.1  NM_001243790.1  NM_001243791.1  NM_014311.2  

    Unigene Clusters for SMUG1:

    Single-strand-selective monofunctional uracil-DNA glycosylase 1
    Hs.632721  [show with all ESTs], Hs.731659  [show with all ESTs]
    Unigene Representative Sequences: AK091468, NM_014311
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000509864 ENST00000508394(uc009znf.2 uc001sfd.4) ENST00000511854
    ENST00000506595 ENST00000514685(uc001sfb.4) ENST00000505128(uc021qyn.1 uc001sfe.2)
    ENST00000337581(uc001sfg.2 uc001sff.2) ENST00000513838(uc001sfc.4)
    ENST00000243112 ENST00000505662 ENST00000401977 ENST00000514196 ENST00000511522
    ENST00000504338 ENST00000509078 ENST00000507904 ENST00000503447 ENST00000504797


    miRNA
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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate SMUG1 (see all 13):
    hsa-miR-98 hsa-miR-142-3p hsa-let-7d hsa-miR-202 hsa-miR-2278 hsa-let-7c hsa-let-7i hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidSMUG1 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMUG1
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    Additional mRNA sequence: 

    AF125182.1 AK001235.1 AK001789.1 AK222473.1 AK290274.1 BC000417.2 BC088352.1 BC105607.1 
    NR_045039.1 

    19 DOTS entries:

    DT.97843066  DT.447493  DT.100799789  DT.91765937  DT.91765932  DT.95324538  DT.100799787  DT.97843065 
    DT.100799784  DT.100799782  DT.91765933  DT.95277788  DT.95277795  DT.100688433  DT.100799786  DT.121145711 
    DT.95309958  DT.102830322  DT.91765938 

    24/188 AceView cDNA sequences (see all 188):

    Z42793 AI286191 Z38938 AL543196 AK001235 CD245413 BE277425 AA337554 
    AU124270 BU627128 BQ959462 AA247823 AI078315 BE280767 BU195802 BE048761 
    CR609554 Z40577 BE858784 AI380986 CR595676 BE222680 AA862712 BM751457 

    GeneLoc Exon Structure

    5/27 Alternative Splicing Database (ASD) splice patterns (SP) for SMUG1 (see all 27)    About this scheme

    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:                    -     -     -     -     -     -     -     -     -     -           -     -     -                 -                                       

    ExUns: 9c · 9d · 9e · 9f · 9g · 9h · 9i · 9j ^ 10a · 10b ^ 11a · 11b · 11c
    SP1:              -     -     -     -     -     -     -     -                     
    SP2:              -     -     -     -     -     -     -     -                     
    SP3:                                                                              
    SP4:              -     -     -     -     -     -     -     -                     
    SP5:                                                                              


    ECgene alternative splicing isoforms for SMUG1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMUG1 expression in normal human tissues (normalized intensities)      SMUG1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATTAAGAG
    SMUG1 Expression
    About this image


    SMUG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             retina   
     
     Ovary (Reproductive System)
             oocyte   

    See SMUG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMUG1

    SOURCE GeneReport for Unigene clusters: Hs.632721 Hs.731659
        SABiosciences Expression via Pathway-Focused PCR Array including SMUG1: 
              DNA Repair in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SMUG1 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smug11 , 5 single-strand selective monofunctional uracil DNA glycosylase1, 5 85.84(n)1
    90.23(a)1
      15 (58.20 cM)5
    717261  NM_027885.31  NP_082161.21 
     1031533075 
    chicken
    (Gallus gallus)
    Aves SMUG11 single-strand-selective monofunctional uracil-DNA glycosylase more 66.67(n)
    67.49(a)
      431025  XM_428577.3  XP_428577.3 
    lizard
    (Anolis carolinensis)
    Reptilia SMUG16
    Uncharacterized protein
    65(a)
    1 ↔ 1
    2(71533048-71547058)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.336982 Xenopus laevis single-strand selective monofunctional more 78.9(n)    AF125181.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5709011 similar to single-strand selective monofunctional uracil more 63.37(n)
    63.79(a)
      570901  XM_694432.5  XP_699524.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52851 , 3 single-strand selective uracil DNA
    N-glycosylase3
    CG52851
    43(a)3
    49.72(n)1
    43.16(a)1
      89F13
    420781  NM_142352.21  NP_650609.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMUG1 gene

    SMUG1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SMUG1
    PGOHUM00000235055


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/293 SNPs in SMUG1 are shown (see all 293)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1144405921,2
    F--54573800(+) TTTTTA/GTATCT 3 -- ds50011Minor allele frequency- G:0.01WA 118
    rs1461354061,2
    C--54573817(+) TTACC-/ATAGATA 3 -- ds50010--------
    rs31363991,2
    C,F--54573818(-) atatcTA/-tggta 3 -- ds50011Minor allele frequency- -:0.05NS 174
    rs768335871,2
    C,F--54573865(+) ATCTCT/CAGCCC 3 -- ds50011Minor allele frequency- C:0.17EA 120
    rs1468108141,2
    C--54573925(+) CCCTG-/TTAACT 3 -- ds50010--------
    rs31363981,2
    C,F,H--54574117(-) TGGAAT/CTTCCC 3 -- ds50014Minor allele frequency- C:0.02NS WA 538
    rs798708641,2
    F--54574125(+) CCAAGG/AATTTA 3 -- ds50011Minor allele frequency- A:0.03NA 120
    rs31363971,2
    C,F,H--54574213(-) TTAGTA/GAGATT 3 -- ut3121Minor allele frequency- G:0.04NS EA NA WA 2196
    rs1442082301,2
    --54574243(+) CCTGTG/TTCCCA 3 -- ut310--------
    rs118372791,2
    C,H--54574264(+) AGTAGA/CCCATG 3 -- ut315Minor allele frequency- C:0.00NS EA 534

    HapMap Linkage Disequilibrium report for SMUG1 (54558529 - 54582778 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SMUG1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509467CNV Insertion20534489
    nsv832419CNV Loss17160897
    nsv832418CNV Loss17160897
    nsv832420CNV Loss17160897


    Human Gene Mutation Database (HGMD): SMUG1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SMUG1
    DNA2.0 Custom Variant and Variant Library Synthesis for SMUG1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607753    OMIM disorders: --

    20/23 diseases for SMUG1 (see all 23):    About MalaCards
    lymphatic system disease    familial colorectal cancer    aphasia    osteomyelitis
    malignant pleural mesothelioma    brain disease    graft versus host disease    vascular disease
    sarcoidosis    esophageal cancer    thyroid cancer    malignant glioma
    meningioma    colorectal cancer    dementia    multiple sclerosis
    esophagitis    thyroiditis    pancreatic cancer    sarcoma

    20 diseases from the University of Copenhagen DISEASES database for SMUG1:
    Lung cancer     Lymphoma     Carcinoma     Thyroid cancer
    Breast cancer     Esophageal cancer     Cervical cancer     Heart disease
    Sarcoidosis     Colorectal cancer     Melanoma     Brain disease
    Sarcoma     Alzheimer's disease     Osteomyelitis     Gastrointestinal stromal tumor
    Malignant glioma     Vascular disease     Pancreatic cancer     Ovarian cancer

    SMUG1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SMUG1
    Human Genome Epidemiology (HuGE) Navigator: SMUG1 (6 documents)

    Export disorders for SMUG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SMUG1 gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with SMUG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a new uracil-DNA glycosylase family by expression cloning using synthetic inhibitors. (PubMed id 10074426)1, 2, 3, 9 Haushalter K.A.... Verdine G.L. (1999)
    2. Definitive identification of mammalian 5-hydroxymethyluracil DNA N- glycosylase activity as SMUG1. (PubMed id 11526119)1, 2, 3 Boorstein R.J.... Teebor G.W. (2001)
    3. Mammalian 5-formyluracil-DNA glycosylase. 2. Role of SMUG1 uracil-DNA glycosylase in repair of 5-formyluracil and other oxidized and deaminated base lesions. (PubMed id 12718543)1, 2, 9 Masaoka A.... Ide H. (2003)
    4. Polymorphisms in uracil-processing genes, but not one-carbon nutrients, are associated with altered DNA uracil concentrations in an urban Puerto Rican population. (PubMed id 19403629)1, 4, 9 Chanson A....Mason J.B. (2009)
    5. Mutational analysis of the damage-recognition and catalytic mechanism of human SMUG1 DNA glycosylase. (PubMed id 15466595)1, 2, 9 Matsubara M....Ide H. (2004)
    6. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PubMed id 20574454)1, 4 Arora M....Thyagarajan B. (2010)
    7. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (2010)
    8. Association between genetic variants in the base exci sion repair pathway and outcomes after hematopoietic cell transplantations. (PubMed id 20226869)1, 4 Thyagarajan B....Arora M. (2010)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23583 HGNC: 17148 AceView: SMUG1 Ensembl:ENSG00000123415 euGenes: HUgn23583
    ECgene: SMUG1 Kegg: 23583 H-InvDB: SMUG1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMUG1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/smug1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SMUG1 gene:
    Search GeneIP for patents involving SMUG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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