InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UNG

Summary

InnateDB Protein

IDBP-55762.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UNG

Protein Name

uracil-DNA glycosylase

Synonyms

DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2;

Species

Homo sapiens

Ensembl Protein

ENSP00000242576

InnateDB Gene

IDBG-55760 (UNG)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Isoform 1: Mitochondrion.Isoform 2: Nucleus.

Disease Associations

Immunodeficiency with hyper-IgM 5 (HIGM5) [MIM:608106]: A 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. {ECO:0000269PubMed:12958596}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.

Experimentally validated
Total	26 [view]
Protein-Protein	23 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004844	uracil DNA N-glycosylase activity

Biological Process

GO:0006281	DNA repair
GO:0006284	base-excision repair
GO:0016032	viral process
GO:0016446	somatic hypermutation of immunoglobulin genes
GO:0016447	somatic recombination of immunoglobulin gene segments
GO:0043066	negative regulation of apoptotic process