UNG
Uracil-DNA glycosylase
Also known as: DGU, HIGM4, UDG, UNG_HUMAN, UNG1, UNG2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P13051
- Gene
- UNG
- Ensembl
- ENSG00000076248
- Chromosome
- 12
- Canonical length
- 313 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Mitochondria
OverviewNCBI Gene
This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]
Canonical amino-acid sequenceUniProt
313 residues, UniProt reviewed canonical sequence.
>P13051|UNG
1 MIGQKTLYSF FSPSPARKRH APSPEPAVQG TGVAGVPEES GDAAAIPAKK APAGQEEPGT
61 PPSSPLSAEQ LDRIQRNKAA ALLRLAARNV PVGFGESWKK HLSGEFGKPY FIKLMGFVAE
121 ERKHYTVYPP PHQVFTWTQM CDIKDVKVVI LGQDPYHGPN QAHGLCFSVQ RPVPPPPSLE
181 NIYKELSTDI EDFVHPGHGD LSGWAKQGVL LLNAVLTVRA HQANSHKERG WEQFTDAVVS
241 WLNQNSNGLV FLLWGSYAQK KGSAIDRKRH HVLQTAHPSP LSVYRGFFGC RHFSKTNELL
301 QKSGKKPIDW KELLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UNG can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 54 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 54 nTPM
- skeletal muscle: 41 nTPM
- parathyroid gland: 31 nTPM
- skin: 31 nTPM
- tongue: 31 nTPM
- liver: 30 nTPM
Single-cell type
- oocytes: 170 nCPM
- differentiating spermatogonia: 108 nCPM
- migrating cytotrophoblasts: 85 nCPM
- parietal cells: 80 nCPM
- cytotrophoblasts: 76 nCPM
- enteric stem cells: 62 nCPM
Immune cell
- MAIT T-cell: 29 nTPM
- memory CD8 T-cell: 24 nTPM
- T-reg: 24 nTPM
- memory CD4 T-cell: 23 nTPM
- gdT-cell: 20 nTPM
- naive CD8 T-cell: 17 nTPM
Brain region
- hypothalamus: 28 nTPM
- pons: 28 nTPM
- medulla oblongata: 27 nTPM
- thalamus: 26 nTPM
- amygdala: 24 nTPM
- basal ganglia: 24 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UNG.
Disease | AllUniProt
Conditions UNG is implicated in, by any mechanism.
- Immunodeficiency with hyper-IgM 5 (HIGM5) MIM:608106
Disease | GeneticClinVar
23 pathogenic / likely-pathogenic of 316 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hyper-IgM syndrome type 5
- Colorectal cancer
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.85
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.06
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- base-excision repair
- depyrimidination
- isotype switching
- negative regulation of apoptotic process
- single strand break repair
- somatic hypermutation of immunoglobulin genes
- base-excision repair, AP site formation via deaminated base removal
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Uracil-DNA glycosylase-like
- Uracil-DNA glycosylase-like domain superfamily
- Uracil DNA glycosylase superfamily
- Uracil-DNA glycosylase family 1
- Uracil-DNA glycosylase, active site
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UNG in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads UNG as an antibody target. Whether an autoantibody or antibody against UNG could matter depends on whether native UNG is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UNG is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label UNG as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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