uracil DNA glycosylase-1 (UDG, UNG, DGU, UNG1 UNG15)

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
• isoform 1 is processed by cleavage of a transit peptide
• interacts with HIV-1 Vpr

Structure

• monomer
• belongs to the uracil-DNA glycosylase family

Compartment

• isoform 1: mitochondrion
• isoform 2: nucleus

Alternative splicing

named isoforms=2

Expression

• isoform 1 is widely expressed with the highest expression in skeletal muscle, heart & testicles
• isoform 2 has the highest expression levels in tissues containing proliferating cells

Pathology

• defects in UNG are a cause of immunodeficiency with hyper-IgM syndrome type 5

Genetics

Gene locus: 12q23-q24.1

More general terms

• uracil DNA glycosylase
• mitochondrial protein
• phosphoprotein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7374
• OMIM: https://mirror.omim.org/entry/191525
• OMIM: https://mirror.omim.org/entry/608106
• UniProt: http://www.uniprot.org/uniprot/P13051.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7374