GeneID: 418
Names
Common Name: | UHRF1 | Type: | Gene |
---|---|---|---|
Chromosome: | 19 (NC_000019.10) | Locus: | NG_033256.2 (UHRF1) |
HUGO Symbol: | UHRF1 | Full Name: | ubiquitin like with PHD and ring finger domains 1 |
Exons: | 17 | Introns: | 16 |
Description:
The UHRF1 gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. It acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits DNMT1 methyltransferase to ensure faithful maintenance of DNA methylation during DNA replication. Disruption of UHRF1 led to increased HbF protein levels in HUDEP-2 cells and in erythroid cells derived from normal adult blood CD34+ cells. UHRF1 regulates γ-globin transcription, likely through methylation of CpG sites at the γ-globin gene promoters. Source: doi.org/10.1182/blood-2018-99-115589
Synonyms: Np95 , hNP95 , ICBP90 , RNF106 , TDRD22 , hUHRF1 , huNp95
Comments:
N/A
Number of entries/variants: 0
Publications / Origin
The are no peer-reviewed publications available for this gene.
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2020-12-01 15:21:07 | The IthaGenes Curation Team | Created |
2 | 2020-12-01 15:24:37 | The IthaGenes Curation Team | Reviewed. Links added. |