UniProtKB - P13051 (UNG_HUMAN)
Protein
Uracil-DNA glycosylase
Gene
UNG
Organism
Homo sapiens (Human)
Status
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 EC:3.2.2.27
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 154 | Proton acceptorUniRule annotation | 1 |
GO - Molecular functioni
- damaged DNA binding Source: UniProtKB
- ribosomal small subunit binding Source: UniProtKB
- uracil DNA N-glycosylase activity Source: HGNC
GO - Biological processi
- base-excision repair Source: HGNC
- base-excision repair, AP site formation via deaminated base removal Source: UniProtKB
- depyrimidination Source: Reactome
- DNA repair Source: ProtInc
- isotype switching Source: Ensembl
- negative regulation of apoptotic process Source: Ensembl
- somatic hypermutation of immunoglobulin genes Source: Ensembl
- viral process Source: UniProtKB-KW
Keywordsi
Molecular function | Hydrolase |
Biological process | DNA damage, DNA repair, Host-virus interaction |
Enzyme and pathway databases
BRENDAi | 3.2.2.27, 2681 |
PathwayCommonsi | P13051 |
Reactomei | R-HSA-110328, Recognition and association of DNA glycosylase with site containing an affected pyrimidine [P13051-1] R-HSA-110329, Cleavage of the damaged pyrimidine [P13051-1] R-HSA-110357, Displacement of DNA glycosylase by APEX1 [P13051-1] |
SABIO-RKi | P13051 |
Names & Taxonomyi
Protein namesi | Recommended name: Uracil-DNA glycosylaseUniRule annotation (EC:3.2.2.27UniRule annotation)Short name: UDGUniRule annotation |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12572, UNG |
MIMi | 191525, gene |
neXtProti | NX_P13051 |
VEuPathDBi | HostDB:ENSG00000076248.10 |
Subcellular locationi
Mitochondrion
Nucleus
Mitochondrion
- mitochondrion Source: GO_Central
Nucleus
- nucleoplasm Source: HGNC
- nucleus Source: GO_Central
Keywords - Cellular componenti
Mitochondrion, NucleusPathology & Biotechi
Involvement in diseasei
Immunodeficiency with hyper-IgM 5 (HIGM5)2 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017094 | 251 | F → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 154 | D → E or N: Loss of activity. 1 Publication | 1 | |
Mutagenesisi | 156 | Y → A, C or S: Thymine-DNA glycosylase activity. 1 Publication | 1 | |
Mutagenesisi | 213 | N → D: Cytosine-DNA glycosylase activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 7374 |
MalaCardsi | UNG |
MIMi | 608106, phenotype |
OpenTargetsi | ENSG00000076248 |
Orphaneti | 101092, Hyper-IgM syndrome type 5 |
PharmGKBi | PA364 |
Miscellaneous databases
Pharosi | P13051, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3277 |
DrugBanki | DB07116, 1-(2-DEOXY-5-O-PHOSPHONO-BETA-D-ERYTHRO-PENTOFURANOSYL)-4-METHYL-1H-INDOLE DB07760, 3-[(1E,7E)-8-(2,6-dioxo-1,2,3,6-tetrahydropyrimidin-4-yl)-3,6-dioxa-2,7-diazaocta-1,7-dien-1-yl]benzoic acid DB06990, 4-[(1E,7E)-8-(2,6-DIOXO-1,2,3,6-TETRAHYDROPYRIMIDIN-4-YL)-3,6-DIOXA-2,7-DIAZAOCTA-1,7-DIEN-1-YL]BENZOIC ACID |
Genetic variation databases
BioMutai | UNG |
DMDMi | 37999897 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000176173 | 1 – 313 | Uracil-DNA glycosylaseAdd BLAST | 313 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 12 | PhosphoserineCombined sources | 1 | |
Modified residuei | 14 | PhosphoserineCombined sources | 1 | |
Modified residuei | 23 | PhosphoserineCombined sources | 1 | |
Modified residuei | 60 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 64 | PhosphoserineCombined sources | 1 | |
Modified residuei | 295 | N6-acetyllysineCombined sources | 1 |
Post-translational modificationi
Isoform 1 is processed by cleavage of a transit peptide.
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P13051 |
jPOSTi | P13051 |
MassIVEi | P13051 |
MaxQBi | P13051 |
PaxDbi | P13051 |
PeptideAtlasi | P13051 |
PRIDEi | P13051 |
ProteomicsDBi | 52891 [P13051-1] 52892 [P13051-2] |
PTM databases
iPTMneti | P13051 |
PhosphoSitePlusi | P13051 |
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
Bgeei | ENSG00000076248, Expressed in secondary oocyte and 241 other tissues |
ExpressionAtlasi | P13051, baseline and differential |
Genevisiblei | P13051, HS |
Organism-specific databases
HPAi | ENSG00000076248, Low tissue specificity |
Interactioni
Subunit structurei
Monomer.
Interacts with FAM72A.
UniRule annotation1 Publication(Microbial infection) Interacts with HIV-1 Vpr.
1 PublicationBinary interactionsi
Hide detailsP13051
With | #Exp. | IntAct |
---|---|---|
RPA2 [P15927] | 6 | EBI-1025947,EBI-621404 |
Isoform 1 [P13051-2]
Protein-protein interaction databases
BioGRIDi | 113220, 27 interactors |
DIPi | DIP-24194N |
ELMi | P13051 |
IntActi | P13051, 31 interactors |
MINTi | P13051 |
STRINGi | 9606.ENSP00000242576 |
Chemistry databases
BindingDBi | P13051 |
Miscellaneous databases
RNActi | P13051, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P13051 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P13051 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 25 | FAM72A-bindingAdd BLAST | 25 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2994, Eukaryota |
GeneTreei | ENSGT00390000003405 |
HOGENOMi | CLU_032162_2_1_1 |
InParanoidi | P13051 |
OMAi | PDNGYLM |
OrthoDBi | 1132313at2759 |
PhylomeDBi | P13051 |
TreeFami | TF315028 |
Family and domain databases
CDDi | cd10027, UDG_F1, 1 hit |
Gene3Di | 3.40.470.10, 1 hit |
HAMAPi | MF_00148, UDG, 1 hit |
InterProi | View protein in InterPro IPR002043, UDG_fam1 IPR018085, Ura-DNA_Glyclase_AS IPR005122, Uracil-DNA_glycosylase-like IPR036895, Uracil-DNA_glycosylase-like_sf |
PANTHERi | PTHR11264, PTHR11264, 1 hit |
Pfami | View protein in Pfam PF03167, UDG, 1 hit |
SMARTi | View protein in SMART SM00986, UDG, 1 hit |
SUPFAMi | SSF52141, SSF52141, 1 hit |
TIGRFAMsi | TIGR00628, ung, 1 hit |
PROSITEi | View protein in PROSITE PS00130, U_DNA_GLYCOSYLASE, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5GYA2 | F5GYA2_HUMAN | Uracil-DNA glycosylase | UNG | 258 | Annotation score: | ||
Q68DM5 | Q68DM5_HUMAN | Uracil-DNA glycosylase | UNG DKFZp781L1143 | 141 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052697 | 4 | Q → R. Corresponds to variant dbSNP:rs7488798Ensembl. | 1 | |
Natural variantiVAR_017094 | 251 | F → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008513 | 1 – 44 | MIGQK…SGDAA → MGVFCLGPWGLGRKLRTPGK GPLQLLSRLCGDHLQ in isoform 1. 3 PublicationsAdd BLAST | 44 |
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 |
CCDSi | CCDS9124.1 [P13051-1] CCDS9125.1 [P13051-2] |
PIRi | S05964, A60472 |
RefSeqi | NP_003353.1, NM_003362.3 [P13051-2] NP_550433.1, NM_080911.2 [P13051-1] |
Genome annotation databases
Ensembli | ENST00000242576; ENSP00000242576; ENSG00000076248 [P13051-1] ENST00000336865; ENSP00000337398; ENSG00000076248 [P13051-2] |
GeneIDi | 7374 |
KEGGi | hsa:7374 |
UCSCi | uc001tnz.3, human [P13051-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS9124.1 [P13051-1] CCDS9125.1 [P13051-2] |
PIRi | S05964, A60472 |
RefSeqi | NP_003353.1, NM_003362.3 [P13051-2] NP_550433.1, NM_080911.2 [P13051-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1AKZ | X-ray | 1.57 | A | 94-313 | [»] | |
1DPU | NMR | - | B | 73-88 | [»] | |
1EMH | X-ray | 1.80 | A | 94-313 | [»] | |
1EMJ | X-ray | 2.00 | A | 94-313 | [»] | |
1Q3F | X-ray | 1.90 | A | 94-313 | [»] | |
1SSP | X-ray | 1.90 | E | 94-313 | [»] | |
1UGH | X-ray | 1.90 | E | 94-313 | [»] | |
1YUO | X-ray | 1.95 | A | 91-313 | [»] | |
2HXM | X-ray | 1.30 | A | 94-313 | [»] | |
2OXM | X-ray | 2.50 | A | 94-313 | [»] | |
2OYT | X-ray | 2.00 | A | 94-313 | [»] | |
2SSP | X-ray | 2.25 | E | 94-313 | [»] | |
3FCF | X-ray | 1.84 | A | 94-313 | [»] | |
3FCI | X-ray | 1.27 | A | 94-313 | [»] | |
3FCK | X-ray | 1.64 | B | 94-313 | [»] | |
3FCL | X-ray | 1.70 | A/B | 94-313 | [»] | |
3TKB | X-ray | 1.50 | A | 94-313 | [»] | |
4SKN | X-ray | 2.90 | E | 94-313 | [»] | |
5AYR | X-ray | 2.40 | A/C | 94-313 | [»] | |
5JK7 | X-ray | 3.49 | D/G | 94-313 | [»] | |
SMRi | P13051 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113220, 27 interactors |
DIPi | DIP-24194N |
ELMi | P13051 |
IntActi | P13051, 31 interactors |
MINTi | P13051 |
STRINGi | 9606.ENSP00000242576 |
Chemistry databases
BindingDBi | P13051 |
ChEMBLi | CHEMBL3277 |
DrugBanki | DB07116, 1-(2-DEOXY-5-O-PHOSPHONO-BETA-D-ERYTHRO-PENTOFURANOSYL)-4-METHYL-1H-INDOLE DB07760, 3-[(1E,7E)-8-(2,6-dioxo-1,2,3,6-tetrahydropyrimidin-4-yl)-3,6-dioxa-2,7-diazaocta-1,7-dien-1-yl]benzoic acid DB06990, 4-[(1E,7E)-8-(2,6-DIOXO-1,2,3,6-TETRAHYDROPYRIMIDIN-4-YL)-3,6-DIOXA-2,7-DIAZAOCTA-1,7-DIEN-1-YL]BENZOIC ACID |
PTM databases
iPTMneti | P13051 |
PhosphoSitePlusi | P13051 |
Genetic variation databases
BioMutai | UNG |
DMDMi | 37999897 |
Proteomic databases
EPDi | P13051 |
jPOSTi | P13051 |
MassIVEi | P13051 |
MaxQBi | P13051 |
PaxDbi | P13051 |
PeptideAtlasi | P13051 |
PRIDEi | P13051 |
ProteomicsDBi | 52891 [P13051-1] 52892 [P13051-2] |
Protocols and materials databases
Antibodypediai | 3173, 509 antibodies |
DNASUi | 7374 |
Genome annotation databases
Ensembli | ENST00000242576; ENSP00000242576; ENSG00000076248 [P13051-1] ENST00000336865; ENSP00000337398; ENSG00000076248 [P13051-2] |
GeneIDi | 7374 |
KEGGi | hsa:7374 |
UCSCi | uc001tnz.3, human [P13051-1] |
Organism-specific databases
CTDi | 7374 |
DisGeNETi | 7374 |
GeneCardsi | UNG |
HGNCi | HGNC:12572, UNG |
HPAi | ENSG00000076248, Low tissue specificity |
MalaCardsi | UNG |
MIMi | 191525, gene 608106, phenotype |
neXtProti | NX_P13051 |
OpenTargetsi | ENSG00000076248 |
Orphaneti | 101092, Hyper-IgM syndrome type 5 |
PharmGKBi | PA364 |
VEuPathDBi | HostDB:ENSG00000076248.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2994, Eukaryota |
GeneTreei | ENSGT00390000003405 |
HOGENOMi | CLU_032162_2_1_1 |
InParanoidi | P13051 |
OMAi | PDNGYLM |
OrthoDBi | 1132313at2759 |
PhylomeDBi | P13051 |
TreeFami | TF315028 |
Enzyme and pathway databases
BRENDAi | 3.2.2.27, 2681 |
PathwayCommonsi | P13051 |
Reactomei | R-HSA-110328, Recognition and association of DNA glycosylase with site containing an affected pyrimidine [P13051-1] R-HSA-110329, Cleavage of the damaged pyrimidine [P13051-1] R-HSA-110357, Displacement of DNA glycosylase by APEX1 [P13051-1] |
SABIO-RKi | P13051 |
Miscellaneous databases
BioGRID-ORCSi | 7374, 9 hits in 881 CRISPR screens |
ChiTaRSi | UNG, human |
EvolutionaryTracei | P13051 |
GeneWikii | Uracil-DNA_glycosylase |
GenomeRNAii | 7374 |
Pharosi | P13051, Tbio |
PROi | PR:P13051 |
RNActi | P13051, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000076248, Expressed in secondary oocyte and 241 other tissues |
ExpressionAtlasi | P13051, baseline and differential |
Genevisiblei | P13051, HS |
Family and domain databases
CDDi | cd10027, UDG_F1, 1 hit |
Gene3Di | 3.40.470.10, 1 hit |
HAMAPi | MF_00148, UDG, 1 hit |
InterProi | View protein in InterPro IPR002043, UDG_fam1 IPR018085, Ura-DNA_Glyclase_AS IPR005122, Uracil-DNA_glycosylase-like IPR036895, Uracil-DNA_glycosylase-like_sf |
PANTHERi | PTHR11264, PTHR11264, 1 hit |
Pfami | View protein in Pfam PF03167, UDG, 1 hit |
SMARTi | View protein in SMART SM00986, UDG, 1 hit |
SUPFAMi | SSF52141, SSF52141, 1 hit |
TIGRFAMsi | TIGR00628, ung, 1 hit |
PROSITEi | View protein in PROSITE PS00130, U_DNA_GLYCOSYLASE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | UNG_HUMAN | |
Accessioni | P13051Primary (citable) accession number: P13051 Secondary accession number(s): A8K5M6 Q93028 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 1, 1990 |
Last sequence update: | October 10, 2003 | |
Last modified: | February 10, 2021 | |
This is version 218 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families