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 |
|---|---|---|---|---|---|
| ubiquitin like with PHD and ring finger domains 1 | MIM:607990 | Ensembl:ENSG00000276043 | HGNC:HGNC:12556 | PA37196 | 19p13.3 |
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 |
| MF | ISS | GO:0031493 | nucleosomal histone binding |
| MF | IDA | GO:0035064 | methylated histone binding |
| MF | IDA | GO:0042393 | histone binding |
| MF | ISS | GO:0042802 | identical protein binding |
| MF | IDA | GO:0044729 | hemi-methylated DNA-binding |
| MF | IBA | GO:0061630 | ubiquitin protein ligase activity |
| MF | ISS | GO:0061630 | ubiquitin protein ligase activity |
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006281 | DNA repair |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IDA | GO:0006511 | ubiquitin-dependent protein catabolic process |
| BP | IEA | GO:0007049 | cell cycle |
| BP | IEP | GO:0008283 | cell proliferation |
| BP | IBA | GO:0010216 | maintenance of DNA methylation |
| BP | IMP | GO:0010216 | maintenance of DNA methylation |
| BP | IBA | GO:0010390 | histone monoubiquitination |
| BP | ISS | GO:0010390 | histone monoubiquitination |
| BP | IBA | GO:0016567 | protein ubiquitination |
| BP | IDA | GO:0016574 | histone ubiquitination |
| BP | IDA | GO:0032270 | positive regulation of cellular protein metabolic process |
| BP | IC | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0051865 | protein autoubiquitination |
| BP | IC | GO:2000373 | positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity |
| CC | IDA | GO:0000790 | nuclear chromatin |
| CC | ISS | GO:0000790 | nuclear chromatin |
| CC | IDA | GO:0000791 | euchromatin |
| CC | IDA | GO:0000792 | heterochromatin |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005657 | replication fork |
| CC | IBA | GO:0005720 | nuclear heterochromatin |
| CC | ISS | GO:0016363 | nuclear matrix |
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 in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in UHRF1
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