UHRF1
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:607990 Ensembl IDEnsembl:ENSG00000276043 HGNC IDHGNC:HGNC:12556 PHARMGKB IDPA37196 Map Location19p13.3 | |||||
GO terms in UHRF1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000987 | proximal promoter sequence-specific DNA binding |
| MF | TAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IDA | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008270 | zinc ion binding |
| MF | IDA | GO:0008327 | methyl-CpG binding |
Gene expression in normal tissue: UHRF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in UHRF1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-5334118 | DNA methylation |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP3651 | Pathways Affected in Adenoid Cystic Carcinoma |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD68 | Paclitaxel | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in UHRF1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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