UHRF1 Chromosome 19

Ubiquitin like with PHD and ring finger domains 1
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
"Ring finger proteins|PHD finger proteins|Tudor domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000276043
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS200061440 Health Risk Conflicting classifications of pathogenicity
RS527736027 Health Risk Conflicting classifications of pathogenicity
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