UHRF1 Chromosome 19
Ubiquitin like with PHD and ring finger domains 1
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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 | — |