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Protein

Single-strand selective monofunctional uracil DNA glycosylase

Gene

SMUG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei84Substrate; via amide nitrogenBy similarity1
Binding sitei98Substrate; via amide nitrogen1
Binding sitei163Substrate1
Binding sitei239Substrate1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Hydrolase
Biological processDNA damage, DNA repair

Enzyme and pathway databases

BRENDAi3.2.2.27 2681
ReactomeiR-HSA-110328 Recognition and association of DNA glycosylase with site containing an affected pyrimidine
R-HSA-110329 Cleavage of the damaged pyrimidine
R-HSA-110357 Displacement of DNA glycosylase by APEX1

Names & Taxonomyi

Protein namesi
Recommended name:
Single-strand selective monofunctional uracil DNA glycosylase (EC:3.2.2.-)
Gene namesi
Name:SMUG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000123415.15
HGNCiHGNC:17148 SMUG1
MIMi607753 gene
neXtProtiNX_Q53HV7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi85N → A: Markedly impaired damage-excising activity for U/G, hoU/G, hmU/A and fU/A. No cytosine-excising activity for C/G, C/A, C/T and C/C. 1 Publication1
Mutagenesisi87G → A or S: Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A. 1 Publication1
Mutagenesisi87G → F: Loss of damage-excising activity. 1 Publication1
Mutagenesisi89F → A, G or S: No effect on damage-excising activity for U/G, hoU/G, hmU/A and fU/A. 1 Publication1
Mutagenesisi90G → A: Loss of damage-excising activity for U/G. Weak, but significant activity toward hoU/G, hmU/A and fU/A. 1 Publication1
Mutagenesisi91M → A: No effect on damage-excising activity for U/G, hoU/G, hmU/A and fU/A. 1 Publication1
Mutagenesisi98F → L: Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A. 1 Publication1
Mutagenesisi163N → D: Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A. No cytosine-excising activity for C/G, C/A, C/T and C/C. hoC-excising activity for hoC/A, hoC/T and hoC/C. 1 Publication1
Mutagenesisi239H → L or N: Markedly impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A. 1 Publication1

Organism-specific databases

DisGeNETi23583
OpenTargetsiENSG00000123415
PharmGKBiPA142670895

Polymorphism and mutation databases

BioMutaiSMUG1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000719921 – 270Single-strand selective monofunctional uracil DNA glycosylaseAdd BLAST270

Proteomic databases

EPDiQ53HV7
MaxQBiQ53HV7
PaxDbiQ53HV7
PeptideAtlasiQ53HV7
PRIDEiQ53HV7
ProteomicsDBi62508
62509 [Q53HV7-2]
TopDownProteomicsiQ53HV7-2 [Q53HV7-2]

PTM databases

PhosphoSitePlusiQ53HV7

Expressioni

Gene expression databases

BgeeiENSG00000123415 Expressed in 170 organ(s), highest expression level in body of stomach
CleanExiHS_SMUG1
ExpressionAtlasiQ53HV7 baseline and differential
GenevisibleiQ53HV7 HS

Organism-specific databases

HPAiHPA051149
HPA071486

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi117118, 6 interactors
IntActiQ53HV7, 39 interactors
STRINGi9606.ENSP00000338606

Structurei

3D structure databases

ProteinModelPortaliQ53HV7
SMRiQ53HV7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni173 – 187DNA bindingBy similarityAdd BLAST15

Sequence similaritiesi

Phylogenomic databases

eggNOGiENOG410IFBA Eukaryota
ENOG410XQUR LUCA
GeneTreeiENSGT00390000004897
HOGENOMiHOG000220288
HOVERGENiHBG084399
InParanoidiQ53HV7
KOiK10800
OMAiFFRHCFV
OrthoDBiEOG091G0R85
PhylomeDBiQ53HV7
TreeFamiTF324356

Family and domain databases

Gene3Di3.40.470.10, 1 hit
InterProiView protein in InterPro
IPR039134 SMUG1
IPR036895 Uracil-DNA_glycosylase-like_sf
PANTHERiPTHR13235 PTHR13235, 1 hit
SUPFAMiSSF52141 SSF52141, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q53HV7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPQAFLLGSI HEPAGALMEP QPCPGSLAES FLEEELRLNA ELSQLQFSEP
60 70 80 90 100
VGIIYNPVEY AWEPHRNYVT RYCQGPKEVL FLGMNPGPFG MAQTGVPFGE
110 120 130 140 150
VSMVRDWLGI VGPVLTPPQE HPKRPVLGLE CPQSEVSGAR FWGFFRNLCG
160 170 180 190 200
QPEVFFHHCF VHNLCPLLFL APSGRNLTPA ELPAKQREQL LGICDAALCR
210 220 230 240 250
QVQLLGVRLV VGVGRLAEQR ARRALAGLMP EVQVEGLLHP SPRNPQANKG
260 270
WEAVAKERLN ELGLLPLLLK
Length:270
Mass (Da):29,862
Last modified:October 17, 2006 - v2
Checksum:i2AB18F6F757F6DD7
GO
Isoform 2 (identifier: Q53HV7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     136-177: VSGARFWGFF...LFLAPSGRNL → GPRQSMGHEI...VRRPGFSSQL
     178-270: Missing.

Note: No experimental confirmation available.
Show »
Length:177
Mass (Da):19,627
Checksum:i9525274EE6797F61
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RI04D6RI04_HUMAN
Single-strand selective monofunctio...
SMUG1
159Annotation score:
D6RA25D6RA25_HUMAN
Single-strand selective monofunctio...
SMUG1
108Annotation score:
D6RA78D6RA78_HUMAN
Single-strand selective monofunctio...
SMUG1
172Annotation score:
D6RAI1D6RAI1_HUMAN
Single-strand selective monofunctio...
SMUG1
126Annotation score:
H0YA95H0YA95_HUMAN
Single-strand selective monofunctio...
SMUG1
143Annotation score:
D6RIA4D6RIA4_HUMAN
Single-strand selective monofunctio...
SMUG1
90Annotation score:
D6RD88D6RD88_HUMAN
Single-strand selective monofunctio...
SMUG1
82Annotation score:
D6RAS0D6RAS0_HUMAN
Single-strand selective monofunctio...
SMUG1
95Annotation score:
A0A0U1RRE6A0A0U1RRE6_HUMAN
Single-strand selective monofunctio...
SMUG1
161Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti30S → G AA sequence (PubMed:11526119).Curated1
Sequence conflicti48S → L in BAC03670 (PubMed:14702039).Curated1
Sequence conflicti50P → I AA sequence (PubMed:11526119).Curated1
Sequence conflicti54I → V AA sequence (PubMed:11526119).Curated1
Sequence conflicti66 – 174Missing in BAC03670 (PubMed:14702039).CuratedAdd BLAST109
Sequence conflicti70T → I in BAD96193 (Ref. 4) Curated1
Sequence conflicti103M → V AA sequence (PubMed:11526119).Curated1
Sequence conflicti157H → R AA sequence (PubMed:11526119).Curated1
Sequence conflicti193I → V AA sequence (PubMed:11526119).Curated1
Sequence conflicti227G → S AA sequence (PubMed:11526119).Curated1
Sequence conflicti259 – 260LN → NL AA sequence (PubMed:11526119).Curated2
Sequence conflicti269 – 270LK → TS AA sequence (PubMed:11526119).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02324315G → V1 PublicationCorresponds to variant dbSNP:rs2233920Ensembl.1
Natural variantiVAR_023244105R → W1 PublicationCorresponds to variant dbSNP:rs3136389Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015150136 – 177VSGAR…SGRNL → GPRQSMGHEIKSELLMGGCS WIRGKIQCDRVQVRRPGFSS QL in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_015151178 – 270Missing in isoform 2. 1 PublicationAdd BLAST93

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF125182 mRNA Translation: AAD17301.1
AK001235 mRNA Translation: BAA91571.1
AK091468 mRNA Translation: BAC03670.1
AK222473 mRNA Translation: BAD96193.1
AK290274 mRNA Translation: BAF82963.1
AF489699 Genomic DNA Translation: AAL86910.1
CH471054 Genomic DNA Translation: EAW96752.1
CH471054 Genomic DNA Translation: EAW96756.1
BC000417 mRNA Translation: AAH00417.1
BC088352 mRNA Translation: AAH88352.1
BC105607 mRNA Translation: AAI05608.1
CCDSiCCDS58239.1 [Q53HV7-2]
CCDS8874.1 [Q53HV7-1]
RefSeqiNP_001230716.1, NM_001243787.1 [Q53HV7-1]
NP_001230717.1, NM_001243788.1 [Q53HV7-1]
NP_001230718.1, NM_001243789.1 [Q53HV7-2]
NP_001230719.1, NM_001243790.1 [Q53HV7-2]
NP_001230720.1, NM_001243791.1 [Q53HV7-2]
NP_055126.1, NM_014311.2 [Q53HV7-1]
XP_006719382.1, XM_006719319.3 [Q53HV7-1]
XP_006719383.1, XM_006719320.3
XP_006719384.1, XM_006719321.3
XP_006719385.1, XM_006719322.3
XP_011536411.1, XM_011538109.2
XP_011536412.1, XM_011538110.2
XP_011536413.1, XM_011538111.2
XP_011536414.1, XM_011538112.2 [Q53HV7-1]
XP_011536415.1, XM_011538113.2
XP_011536416.1, XM_011538114.2
XP_011536417.1, XM_011538115.2
XP_011536418.1, XM_011538116.2 [Q53HV7-1]
XP_011536419.1, XM_011538117.2
XP_011536420.1, XM_011538118.2 [Q53HV7-1]
XP_011536421.1, XM_011538119.2 [Q53HV7-1]
XP_011536422.1, XM_011538120.2
XP_011536423.1, XM_011538121.2 [Q53HV7-1]
XP_011536424.1, XM_011538122.2
XP_016874602.1, XM_017019113.1
XP_016874603.1, XM_017019114.1
XP_016874604.1, XM_017019115.1
XP_016874605.1, XM_017019116.1
XP_016874606.1, XM_017019117.1
XP_016874607.1, XM_017019118.1
XP_016874608.1, XM_017019119.1 [Q53HV7-2]
XP_016874609.1, XM_017019120.1
UniGeneiHs.632721
Hs.731659

Genome annotation databases

EnsembliENST00000243112; ENSP00000243112; ENSG00000123415 [Q53HV7-2]
ENST00000337581; ENSP00000338606; ENSG00000123415 [Q53HV7-1]
ENST00000401977; ENSP00000384828; ENSG00000123415 [Q53HV7-1]
ENST00000506595; ENSP00000421206; ENSG00000123415 [Q53HV7-2]
ENST00000508394; ENSP00000424191; ENSG00000123415 [Q53HV7-1]
ENST00000513838; ENSP00000423629; ENSG00000123415 [Q53HV7-2]
ENST00000514685; ENSP00000421139; ENSG00000123415 [Q53HV7-2]
GeneIDi23583
KEGGihsa:23583
UCSCiuc001sfb.5 human [Q53HV7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF125182 mRNA Translation: AAD17301.1
AK001235 mRNA Translation: BAA91571.1
AK091468 mRNA Translation: BAC03670.1
AK222473 mRNA Translation: BAD96193.1
AK290274 mRNA Translation: BAF82963.1
AF489699 Genomic DNA Translation: AAL86910.1
CH471054 Genomic DNA Translation: EAW96752.1
CH471054 Genomic DNA Translation: EAW96756.1
BC000417 mRNA Translation: AAH00417.1
BC088352 mRNA Translation: AAH88352.1
BC105607 mRNA Translation: AAI05608.1
CCDSiCCDS58239.1 [Q53HV7-2]
CCDS8874.1 [Q53HV7-1]
RefSeqiNP_001230716.1, NM_001243787.1 [Q53HV7-1]
NP_001230717.1, NM_001243788.1 [Q53HV7-1]
NP_001230718.1, NM_001243789.1 [Q53HV7-2]
NP_001230719.1, NM_001243790.1 [Q53HV7-2]
NP_001230720.1, NM_001243791.1 [Q53HV7-2]
NP_055126.1, NM_014311.2 [Q53HV7-1]
XP_006719382.1, XM_006719319.3 [Q53HV7-1]
XP_006719383.1, XM_006719320.3
XP_006719384.1, XM_006719321.3
XP_006719385.1, XM_006719322.3
XP_011536411.1, XM_011538109.2
XP_011536412.1, XM_011538110.2
XP_011536413.1, XM_011538111.2
XP_011536414.1, XM_011538112.2 [Q53HV7-1]
XP_011536415.1, XM_011538113.2
XP_011536416.1, XM_011538114.2
XP_011536417.1, XM_011538115.2
XP_011536418.1, XM_011538116.2 [Q53HV7-1]
XP_011536419.1, XM_011538117.2
XP_011536420.1, XM_011538118.2 [Q53HV7-1]
XP_011536421.1, XM_011538119.2 [Q53HV7-1]
XP_011536422.1, XM_011538120.2
XP_011536423.1, XM_011538121.2 [Q53HV7-1]
XP_011536424.1, XM_011538122.2
XP_016874602.1, XM_017019113.1
XP_016874603.1, XM_017019114.1
XP_016874604.1, XM_017019115.1
XP_016874605.1, XM_017019116.1
XP_016874606.1, XM_017019117.1
XP_016874607.1, XM_017019118.1
XP_016874608.1, XM_017019119.1 [Q53HV7-2]
XP_016874609.1, XM_017019120.1
UniGeneiHs.632721
Hs.731659

3D structure databases

ProteinModelPortaliQ53HV7
SMRiQ53HV7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117118, 6 interactors
IntActiQ53HV7, 39 interactors
STRINGi9606.ENSP00000338606

PTM databases

PhosphoSitePlusiQ53HV7

Polymorphism and mutation databases

BioMutaiSMUG1

Proteomic databases

EPDiQ53HV7
MaxQBiQ53HV7
PaxDbiQ53HV7
PeptideAtlasiQ53HV7
PRIDEiQ53HV7
ProteomicsDBi62508
62509 [Q53HV7-2]
TopDownProteomicsiQ53HV7-2 [Q53HV7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243112; ENSP00000243112; ENSG00000123415 [Q53HV7-2]
ENST00000337581; ENSP00000338606; ENSG00000123415 [Q53HV7-1]
ENST00000401977; ENSP00000384828; ENSG00000123415 [Q53HV7-1]
ENST00000506595; ENSP00000421206; ENSG00000123415 [Q53HV7-2]
ENST00000508394; ENSP00000424191; ENSG00000123415 [Q53HV7-1]
ENST00000513838; ENSP00000423629; ENSG00000123415 [Q53HV7-2]
ENST00000514685; ENSP00000421139; ENSG00000123415 [Q53HV7-2]
GeneIDi23583
KEGGihsa:23583
UCSCiuc001sfb.5 human [Q53HV7-1]

Organism-specific databases

CTDi23583
DisGeNETi23583
EuPathDBiHostDB:ENSG00000123415.15
GeneCardsiSMUG1
H-InvDBiHIX0010683
HGNCiHGNC:17148 SMUG1
HPAiHPA051149
HPA071486
MIMi607753 gene
neXtProtiNX_Q53HV7
OpenTargetsiENSG00000123415
PharmGKBiPA142670895
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFBA Eukaryota
ENOG410XQUR LUCA
GeneTreeiENSGT00390000004897
HOGENOMiHOG000220288
HOVERGENiHBG084399
InParanoidiQ53HV7
KOiK10800
OMAiFFRHCFV
OrthoDBiEOG091G0R85
PhylomeDBiQ53HV7
TreeFamiTF324356

Enzyme and pathway databases

BRENDAi3.2.2.27 2681
ReactomeiR-HSA-110328 Recognition and association of DNA glycosylase with site containing an affected pyrimidine
R-HSA-110329 Cleavage of the damaged pyrimidine
R-HSA-110357 Displacement of DNA glycosylase by APEX1

Miscellaneous databases

ChiTaRSiSMUG1 human
GeneWikiiSMUG1
GenomeRNAii23583
PROiPR:Q53HV7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123415 Expressed in 170 organ(s), highest expression level in body of stomach
CleanExiHS_SMUG1
ExpressionAtlasiQ53HV7 baseline and differential
GenevisibleiQ53HV7 HS

Family and domain databases

Gene3Di3.40.470.10, 1 hit
InterProiView protein in InterPro
IPR039134 SMUG1
IPR036895 Uracil-DNA_glycosylase-like_sf
PANTHERiPTHR13235 PTHR13235, 1 hit
SUPFAMiSSF52141 SSF52141, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSMUG1_HUMAN
AccessioniPrimary (citable) accession number: Q53HV7
Secondary accession number(s): A8K2K9
, O95862, Q0D2M0, Q8NB71, Q9BWC8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 119 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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