UNG deficiency

Gene Information

Names

HUGO name: UNG

Alias(es):

  • DGU
  • HIGM4
  • UDG
  • UNG1
  • UNG15
  • Uracil-DNA glycosylase
  • Uracil-DNA glycosylase 1
  • Uracil-DNA glycosylase

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Protein 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.

Subunit:

Monomer

Subcellular location:

Mitochondrial (isoform 1). Nuclear (isoform 2).

Post-translational modification:

Isoform 1 is processed by cleavage of a transit peptide.

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.

Similarity:

Belongs to the uracil-DNA glycosylase family.

Structures (PDB)

1AKZ Human Uracil-DNA Glycosylase
1EMH Crystal Structure Of Human Uracil-DNA Glycosylase Bound To Uncleaved Substrate-Containing DNA
1EMJ Uracil-DNA Glycosylase Bound To DNA Containing A 4'-Thio- 2'Deoxyuridine Analog Product
1SSP Wild-Type Uracil-DNA Glycosylase Bound To Uracil-Containing DNA
1UGH Crystal Structure Of Human Uracil-DNA Glycosylase In Complex With A Protein Inhibitor: Protein Mimicry Of DNA
2SSP Leucine-272-Alanine Uracil-DNA Glycosylase Bound To Abasic Site-Containing DNA
4SKN A Nucleotide-Flipping Mechanism From The Structure Of Human Uracil-DNA Glycosylase Bound To DNA

Expression

Expression pattern for human

Tissue Expression (%) Clones
germinal center B-cells 8.26 1:585
four pooled pituitary adenomas 7.52 1:643
stomach, adenocarcinoma 4.78 1:1010
four pooled high-grade tumors, including two primary tumors and two metastatic to ovary 4.71 1:1025
Burkitt lymphoma 3.47 9:12544
tumor 2.65 4:7305
2 pooled high-grade transitional cell tumors 2.64 2:3660
fetal eyes 2.60 2:3720
adrenal cortex carcinoma, cell line 2.34 3:6207
germ cell tumor 2.27 1:2133
germinal center B-cells 8.26 1:585
four pooled pituitary adenomas 7.52 1:643
stomach, adenocarcinoma 4.78 1:1010
four pooled high-grade tumors, including two primary tumors and two metastatic to ovary 4.71 1:1025
Burkitt lymphoma 3.47 9:12544
tumor 2.65 4:7305
2 pooled high-grade transitional cell tumors 2.64 2:3660
fetal eyes 2.60 2:3720
adrenal cortex carcinoma, cell line 2.34 3:6207
germ cell tumor 2.27 1:2133

Animal models

Mouse