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FLASH GENE

Symbol

UNG

contributors: mct - updated : 22-05-2013

HGNC name	uracil-DNA glycosylase
HGNC id	12572

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	two isoforms UNG1, UNG2 generated by alternative splicing and transcription from different positions (Nilsen)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003362 6 splicing initiation site 2166 NP_003353 - 304 testis, heart, muscle Nilsen UNG1, mitochondrial containing a strong mitochondrial localization signal NM_080911 7 - 2070 NP_550433 34.6 313 testis, placenta, colon, small intestine, thymus Nilsen, Parker (2007) nuclear, UNG2 containing a nuclear localization signal (NLS) stimulated by physiologic concentrations of Mg(2+), and Mg(2+) increased the preference of UNG2 toward uracil nearly 40-fold major enzyme for removal of deaminated cytosine outside of replication foci, with SMUG1 acting as a broad specificity backup

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain contains binding motifs for both proliferating cell nuclear antigen (PCNA) and replication protein A (RPA1) , and N-terminus interacts with the active site of the enzyme and with chromatin
	UNG1 containing a nuclear localization signal (NLS)
	UNG2 containing a strong mitochondrial localization signal

conjugated

PhosphoP

mono polymer

monomer

HOMOLOGY

interspecies

ortholog to murine Ung

Homologene

FAMILY

uracil-DNA glycosylase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,nucleus

basic FUNCTION	having uracil-DNA glycosylase activity
	playing a critical role in antibody gene diversification
	is likely to represent a new host defense factor specifically counteracted by HIV-1 Vpr
	in cell nuclei, is the major uracil-DNA glycosylase initiating DNA base excision repair of uracil
	does not appear to process U:G base pairs at all in Ig genes outside G1 phase
	UNG and SMUG1 are the two uracil-DNA glycosylases (UDGs) most likely to combat the genomic incorporation of uracil and 5-Fluorouracil (5-FU) during replication

CELLULAR PROCESS

nucleotide, repair, base excision repair

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	directly interacts with the nuclear localization signal-region (NLS) of XRCC1
	RPA1 recruits UNG to sites of deamination and keeps DNA in a single stranded conformation, thus avoiding error-free base excision repair of the deaminated cytosine
	disruption of the PCNA-binding motif impaired recruitment of UNG to S-phase replication foci, demonstrating that PCNA is a major factor for recruitment of UNG to unperturbed replication forks

cell & other

REGULATION

Other

regulated by cell cycle-specific phosphorylations (protein turnover, activity and association with RPA)

ASSOCIATED DISORDERS

corresponding disease(s)

HIGM4

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   blocks CENPA assembly, and results in reduced cell proliferation, associated with increased frequencies of mitotic abnormalities and rapid cell death constitutional     --over   inhibits HIV-1 replication

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS