Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Uracil-DNA glycosylase

Gene

UNG

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

Functioni

Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine.

Catalytic activityi

Hydrolyzes single-stranded DNA or mismatched double-stranded DNA and polynucleotides, releasing free uracil.UniRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei154Proton acceptorUniRule annotation1

GO - Molecular functioni

  • damaged DNA binding Source: UniProtKB
  • ribosomal small subunit binding Source: UniProtKB
  • uracil DNA N-glycosylase activity Source: HGNC

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processDNA damage, DNA repair, Host-virus interaction

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
SABIO-RKiP13051

Names & Taxonomyi

Protein namesi
Recommended name:
Uracil-DNA glycosylaseUniRule annotation (EC:3.2.2.27UniRule annotation)
Short name:
UDGUniRule annotation
Gene namesi
Name:UNGUniRule annotation
Synonyms:DGU, UNG1UniRule annotation, UNG15UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000076248.10
HGNCiHGNC:12572 UNG
MIMi191525 gene
neXtProtiNX_P13051

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

Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Immunodeficiency with hyper-IgM 5 (HIGM5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.
See also OMIM:608106
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017094251F → S in HIGM5; fully active and stable when expressed in E.coli; mistargeted to mitochondria rather than the nucleus. 2 PublicationsCorresponds to variant dbSNP:rs104894380EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi154D → E or N: Loss of activity. 1 Publication1
Mutagenesisi156Y → A, C or S: Thymine-DNA glycosylase activity. 1 Publication1
Mutagenesisi213N → D: Cytosine-DNA glycosylase activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7374
MalaCardsiUNG
MIMi608106 phenotype
OpenTargetsiENSG00000076248
Orphaneti101092 Hyper-IgM syndrome type 5
PharmGKBiPA364

Chemistry databases

ChEMBLiCHEMBL3277
DrugBankiDB07116 1-(2-DEOXY-5-O-PHOSPHONO-BETA-D-ERYTHRO-PENTOFURANOSYL)-4-METHYL-1H-INDOLE

Polymorphism and mutation databases

BioMutaiUNG
DMDMi37999897

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001761731 – 313Uracil-DNA glycosylaseAdd BLAST313

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12PhosphoserineCombined sources1
Modified residuei14PhosphoserineCombined sources1
Modified residuei23PhosphoserineCombined sources1
Modified residuei60PhosphothreonineCombined sources1
Modified residuei64PhosphoserineCombined sources1
Modified residuei295N6-acetyllysineCombined sources1

Post-translational modificationi

Isoform 1 is processed by cleavage of a transit peptide.

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP13051
MaxQBiP13051
PaxDbiP13051
PeptideAtlasiP13051
PRIDEiP13051
ProteomicsDBi52891
52892 [P13051-2]

PTM databases

iPTMnetiP13051
PhosphoSitePlusiP13051

Expressioni

Tissue specificityi

Isoform 1 is widely expressed with the highest expression in skeletal muscle, heart and testicles. Isoform 2 has the highest expression levels in tissues containing proliferating cells.

Gene expression databases

BgeeiENSG00000076248 Expressed in 229 organ(s), highest expression level in secondary oocyte
CleanExiHS_UNG
ExpressionAtlasiP13051 baseline and differential
GenevisibleiP13051 HS

Organism-specific databases

HPAiCAB011605

Interactioni

Subunit structurei

Monomer. Interacts with FAM72A.UniRule annotation1 Publication
(Microbial infection) Interacts with HIV-1 Vpr.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
RPA2P159276EBI-1025947,EBI-621404

Protein-protein interaction databases

BioGridi113220, 22 interactors
DIPiDIP-24194N
ELMiP13051
IntActiP13051, 11 interactors
MINTiP13051
STRINGi9606.ENSP00000242576

Chemistry databases

BindingDBiP13051

Structurei

Secondary structure

1313
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP13051
SMRiP13051
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP13051

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 25FAM72A-bindingAdd BLAST25

Sequence similaritiesi

Belongs to the uracil-DNA glycosylase (UDG) superfamily. UNG family.UniRule annotation

Phylogenomic databases

eggNOGiKOG2994 Eukaryota
COG0692 LUCA
GeneTreeiENSGT00390000003405
HOGENOMiHOG000229528
HOVERGENiHBG000396
InParanoidiP13051
KOiK03648
OMAiDNGYLMP
OrthoDBiEOG091G0HEH
PhylomeDBiP13051
TreeFamiTF315028

Family and domain databases

CDDicd10027 UDG_F1, 1 hit
Gene3Di3.40.470.10, 1 hit
HAMAPiMF_00148 UDG, 1 hit
InterProiView protein in InterPro
IPR002043 UDG_fam1
IPR018085 Ura-DNA_Glyclase_AS
IPR005122 Uracil-DNA_glycosylase-like
IPR036895 Uracil-DNA_glycosylase-like_sf
PANTHERiPTHR11264 PTHR11264, 1 hit
PfamiView protein in Pfam
PF03167 UDG, 1 hit
SMARTiView protein in SMART
SM00986 UDG, 1 hit
SUPFAMiSSF52141 SSF52141, 1 hit
TIGRFAMsiTIGR00628 ung, 1 hit
PROSITEiView protein in PROSITE
PS00130 U_DNA_GLYCOSYLASE, 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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: P13051-1) [UniParc]FASTAAdd to basket
Also known as: UNG2

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
MIGQKTLYSF FSPSPARKRH APSPEPAVQG TGVAGVPEES GDAAAIPAKK
60 70 80 90 100
APAGQEEPGT PPSSPLSAEQ LDRIQRNKAA ALLRLAARNV PVGFGESWKK
110 120 130 140 150
HLSGEFGKPY FIKLMGFVAE ERKHYTVYPP PHQVFTWTQM CDIKDVKVVI
160 170 180 190 200
LGQDPYHGPN QAHGLCFSVQ RPVPPPPSLE NIYKELSTDI EDFVHPGHGD
210 220 230 240 250
LSGWAKQGVL LLNAVLTVRA HQANSHKERG WEQFTDAVVS WLNQNSNGLV
260 270 280 290 300
FLLWGSYAQK KGSAIDRKRH HVLQTAHPSP LSVYRGFFGC RHFSKTNELL
310
QKSGKKPIDW KEL
Length:313
Mass (Da):34,645
Last modified:October 10, 2003 - v2
Checksum:iA4B27E6198AFE9C0
GO
Isoform 1 (identifier: P13051-2) [UniParc]FASTAAdd to basket
Also known as: UNG1

The sequence of this isoform differs from the canonical sequence as follows:
     1-44: MIGQKTLYSF...GVPEESGDAA → MGVFCLGPWGLGRKLRTPGKGPLQLLSRLCGDHLQ

Show »
Length:304
Mass (Da):33,924
Checksum:i32998C244E47B215
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GYA2F5GYA2_HUMAN
Uracil-DNA glycosylase
UNG
258Annotation score:
Q68DM5Q68DM5_HUMAN
Uracil-DNA glycosylase
UNG DKFZp781L1143
141Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0526974Q → R. Corresponds to variant dbSNP:rs7488798Ensembl.1
Natural variantiVAR_017094251F → S in HIGM5; fully active and stable when expressed in E.coli; mistargeted to mitochondria rather than the nucleus. 2 PublicationsCorresponds to variant dbSNP:rs104894380EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0085131 – 44MIGQK…SGDAA → MGVFCLGPWGLGRKLRTPGK GPLQLLSRLCGDHLQ in isoform 1. 3 PublicationsAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X15653 mRNA Translation: CAA33679.1
X89398 Genomic DNA Translation: CAA61578.1
X89398 Genomic DNA Translation: CAA61579.1
Y09008 mRNA Translation: CAA70211.1
AF526277 Genomic DNA Translation: AAM77695.1
AK291341 mRNA Translation: BAF84030.1
AK313552 mRNA Translation: BAG36328.1
CH471054 Genomic DNA Translation: EAW97846.1
CH471054 Genomic DNA Translation: EAW97847.1
BC015205 mRNA Translation: AAH15205.1
BC050634 mRNA Translation: AAH50634.1
CCDSiCCDS9124.1 [P13051-1]
CCDS9125.1 [P13051-2]
PIRiS05964 A60472
RefSeqiNP_003353.1, NM_003362.3 [P13051-2]
NP_550433.1, NM_080911.2 [P13051-1]
UniGeneiHs.191334

Genome annotation databases

EnsembliENST00000242576; ENSP00000242576; ENSG00000076248 [P13051-1]
ENST00000336865; ENSP00000337398; ENSG00000076248 [P13051-2]
GeneIDi7374
KEGGihsa:7374
UCSCiuc001tnz.3 human [P13051-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs
UNGbase

UNG mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X15653 mRNA Translation: CAA33679.1
X89398 Genomic DNA Translation: CAA61578.1
X89398 Genomic DNA Translation: CAA61579.1
Y09008 mRNA Translation: CAA70211.1
AF526277 Genomic DNA Translation: AAM77695.1
AK291341 mRNA Translation: BAF84030.1
AK313552 mRNA Translation: BAG36328.1
CH471054 Genomic DNA Translation: EAW97846.1
CH471054 Genomic DNA Translation: EAW97847.1
BC015205 mRNA Translation: AAH15205.1
BC050634 mRNA Translation: AAH50634.1
CCDSiCCDS9124.1 [P13051-1]
CCDS9125.1 [P13051-2]
PIRiS05964 A60472
RefSeqiNP_003353.1, NM_003362.3 [P13051-2]
NP_550433.1, NM_080911.2 [P13051-1]
UniGeneiHs.191334

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1AKZX-ray1.57A94-313[»]
1DPUNMR-B73-88[»]
1EMHX-ray1.80A94-313[»]
1EMJX-ray2.00A94-313[»]
1Q3FX-ray1.90A94-313[»]
1SSPX-ray1.90E94-313[»]
1UGHX-ray1.90E94-313[»]
1YUOX-ray1.95A91-313[»]
2HXMX-ray1.30A94-313[»]
2OXMX-ray2.50A94-313[»]
2OYTX-ray2.00A94-313[»]
2SSPX-ray2.25E94-313[»]
3FCFX-ray1.84A94-313[»]
3FCIX-ray1.27A94-313[»]
3FCKX-ray1.64B94-313[»]
3FCLX-ray1.70A/B94-313[»]
3TKBX-ray1.50A94-313[»]
4SKNX-ray2.90E94-313[»]
5AYRX-ray2.40A/C94-313[»]
5JK7X-ray3.49D/G94-313[»]
ProteinModelPortaliP13051
SMRiP13051
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113220, 22 interactors
DIPiDIP-24194N
ELMiP13051
IntActiP13051, 11 interactors
MINTiP13051
STRINGi9606.ENSP00000242576

Chemistry databases

BindingDBiP13051
ChEMBLiCHEMBL3277
DrugBankiDB07116 1-(2-DEOXY-5-O-PHOSPHONO-BETA-D-ERYTHRO-PENTOFURANOSYL)-4-METHYL-1H-INDOLE

PTM databases

iPTMnetiP13051
PhosphoSitePlusiP13051

Polymorphism and mutation databases

BioMutaiUNG
DMDMi37999897

Proteomic databases

EPDiP13051
MaxQBiP13051
PaxDbiP13051
PeptideAtlasiP13051
PRIDEiP13051
ProteomicsDBi52891
52892 [P13051-2]

Protocols and materials databases

DNASUi7374
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000242576; ENSP00000242576; ENSG00000076248 [P13051-1]
ENST00000336865; ENSP00000337398; ENSG00000076248 [P13051-2]
GeneIDi7374
KEGGihsa:7374
UCSCiuc001tnz.3 human [P13051-1]

Organism-specific databases

CTDi7374
DisGeNETi7374
EuPathDBiHostDB:ENSG00000076248.10
GeneCardsiUNG
HGNCiHGNC:12572 UNG
HPAiCAB011605
MalaCardsiUNG
MIMi191525 gene
608106 phenotype
neXtProtiNX_P13051
OpenTargetsiENSG00000076248
Orphaneti101092 Hyper-IgM syndrome type 5
PharmGKBiPA364
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2994 Eukaryota
COG0692 LUCA
GeneTreeiENSGT00390000003405
HOGENOMiHOG000229528
HOVERGENiHBG000396
InParanoidiP13051
KOiK03648
OMAiDNGYLMP
OrthoDBiEOG091G0HEH
PhylomeDBiP13051
TreeFamiTF315028

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
SABIO-RKiP13051

Miscellaneous databases

ChiTaRSiUNG human
EvolutionaryTraceiP13051
GeneWikiiUracil-DNA_glycosylase
GenomeRNAii7374
PROiPR:P13051
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000076248 Expressed in 229 organ(s), highest expression level in secondary oocyte
CleanExiHS_UNG
ExpressionAtlasiP13051 baseline and differential
GenevisibleiP13051 HS

Family and domain databases

CDDicd10027 UDG_F1, 1 hit
Gene3Di3.40.470.10, 1 hit
HAMAPiMF_00148 UDG, 1 hit
InterProiView protein in InterPro
IPR002043 UDG_fam1
IPR018085 Ura-DNA_Glyclase_AS
IPR005122 Uracil-DNA_glycosylase-like
IPR036895 Uracil-DNA_glycosylase-like_sf
PANTHERiPTHR11264 PTHR11264, 1 hit
PfamiView protein in Pfam
PF03167 UDG, 1 hit
SMARTiView protein in SMART
SM00986 UDG, 1 hit
SUPFAMiSSF52141 SSF52141, 1 hit
TIGRFAMsiTIGR00628 ung, 1 hit
PROSITEiView protein in PROSITE
PS00130 U_DNA_GLYCOSYLASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiUNG_HUMAN
AccessioniPrimary (citable) accession number: P13051
Secondary accession number(s): A8K5M6
, B2R8Y1, O00637, O00719, Q93028
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: October 10, 2003
Last modified: September 12, 2018
This is version 203 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again