| Ubiquitin-like with PHD and RING Finger Domains 1 | |
|---|---|
| Gene Symbol | UHRF1 |
| Full Name | ubiquitin-like with PHD and RING finger domains 1 |
| Chromosome | 19p13.3 |
| NCBI Gene ID | 29128 |
| OMIM | 607909 |
| Ensembl ID | ENSG00000048828 |
| UniProt ID | Q96T23 |
| Associated Diseases | Cancer, Alzheimer's Disease, Parkinson's Disease |
UHRF1 (Ubiquitin-like with PHD and RING Finger Domains 1) is a key epigenetic regulator that functions as a master regulator of DNA methylation maintenance. It coordinates the recruitment of DNMT1 to replication forks and reads histone modifications to ensure proper epigenetic inheritance during cell division. UHRF1 is frequently overexpressed in cancers and has been implicated in neurodegenerative diseases including Alzheimer's and Parkinson's disease.
The UHRF1 gene is located on chromosome 19p13.3 and encodes a protein of 782 amino acids containing multiple functional domains: a ubiquitin-like (UBL) domain, a tandem Tudor domain (TTD) that recognizes H3K9me3, a PHD finger that binds unmodified H3, a SRA domain that binds hemimethylated CpG DNA, and a RING finger domain with E3 ubiquitin ligase activity. This multi-domain architecture allows UHRF1 to integrate histone and DNA methylation signals to maintain epigenetic memory.
UHRF1 is a key epigenetic regulator that bridges DNA methylation and histone modifications. It plays crucial roles in DNA repair, cell cycle regulation, and maintenance of genomic stability.
Key functions include:
UHRF1 is highly expressed in proliferating cells:
The study of Uhrf1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
UHRF1 is an epigenetic reader that coordinates DNA methylation maintenance and histone modifications.