UHRF1 - ubiquitin like with PHD and ring finger domains 1 Gene
Also Known as Np95; hNP95; ICBP90; RNF106; TDRD22; hUHRF1; huNp95
Species: Homo sapiens
About UHRF1
This gene has 8 transcripts (splice variants), 206 orthologues and 2 paralogues. Broad expression in bone marrow (RPKM 7.7), lymph node (RPKM 6.3) and 14 other tissues.
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]
UHRF1 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001048201.3 | NP_001041666.1 | E3 ubiquitin-protein ligase UHRF1 isoform 1 |
| NM_001290050.2 | NP_001276979.1 | E3 ubiquitin-protein ligase UHRF1 isoform 1 |
| NM_001290051.2 | NP_001276980.1 | E3 ubiquitin-protein ligase UHRF1 isoform 1 |
| NM_001290052.2 | NP_001276981.1 | E3 ubiquitin-protein ligase UHRF1 isoform 1 |
| NM_013282.5 | NP_037414.3 | E3 ubiquitin-protein ligase UHRF1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
10646863 | GOA |
| enables hemi-methylated DNA-binding |
IDA
IDA: Inferred from direct assay
|
17673620 | GOA |
| enables histone binding |
IDA
IDA: Inferred from direct assay
|
21777816 | GOA |
| enables methyl-CpG binding |
IDA
IDA: Inferred from direct assay
|
15361834 | GOA |
| enables methylated histone binding |
IDA
IDA: Inferred from direct assay
|
17967883 | GOA |
| enables nucleic acid binding |
EXP
EXP: Inferred from Experiment
|
18772889 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15361834 | GOA |
| enables ubiquitin protein ligase activity |
IDA
IDA: Inferred from direct assay
|
37728657 | GOA |
| enables ubiquitin-protein transferase activity |
IDA
IDA: Inferred from direct assay
|
17967883 | GOA |
| enables zinc ion binding |
IDA
IDA: Inferred from direct assay
|
21777816 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in heterochromatin formation |
IDA
IDA: Inferred from direct assay
|
17967883 | GOA |
| involved in mitotic spindle assembly |
IDA
IDA: Inferred from direct assay
|
37728657 | GOA |
| involved in negative regulation of gene expression via chromosomal CpG island methylation |
IMP
IMP: Inferred from mutant phenotype
|
17673620 | GOA |
| involved in negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
21777816 | GOA |
| involved in positive regulation of protein metabolic process |
IDA
IDA: Inferred from direct assay
|
10646863 | GOA |
| involved in protein autoubiquitination |
IDA
IDA: Inferred from direct assay
|
21745816 | GOA |
| involved in regulation of epithelial cell proliferation |
IMP
IMP: Inferred from mutant phenotype
|
15361834 | GOA |
| involved in ubiquitin-dependent protein catabolic process |
IDA
IDA: Inferred from direct assay
|
22945642 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in chromatin |
IDA
IDA: Inferred from direct assay
|
17673620 | GOA |
| located in euchromatin |
IDA
IDA: Inferred from direct assay
|
21777816 | GOA |
| located in heterochromatin |
IDA
IDA: Inferred from direct assay
|
17967883 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10646863 | GOA |
| located in replication fork |
IDA
IDA: Inferred from direct assay
|
17673620 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
E3 ubiquitin-protein ligase UHRF1 |
|
UHRF1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
UHRF1 | Q96T88 | DNMT1 | Homo sapiens | P26358 | 17934516 | |
|
Intra
|
UHRF1 | Q96T88 | DNMT1 | Homo sapiens | P26358 | 17934516 | |
|
Intra
|
UHRF1 | Q96T88 | DNMT1 | Homo sapiens | P26358 | 17934516 | |
|
Intra
|
UHRF1 | Q96T88 | DNMT1 | Homo sapiens | P26358 | 19798101 | |
|
Intra
|
UHRF1 | Q96T88 | DNMT1 | Homo sapiens | P26358 | 17934516 | |
|
Intra
|
UHRF1 | Q96T88 | DNMT3B | Homo sapiens | Q9UBC3 | 19798101 | |
|
Intra
|
UHRF1 | Q96T88 | DNMT3B | Homo sapiens | Q9UBC3 | 19798101 | |
|
Intra
|
UHRF1 | Q96T88 | DNMT3B | Homo sapiens | Q9UBC3 | 19798101 | |
|
Intra
|
UHRF1 | Q96T88 | DNMT3A | Homo sapiens | Q9Y6K1 | 19798101 | |
|
Intra
|
UHRF1 | Q96T88 | DNMT3A | Homo sapiens | Q9Y6K1 | 19798101 | |
|
Intra
|
UHRF1 | Q96T88 | DNMT3A | Homo sapiens | Q9Y6K1 | 19798101 |
UHRF1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81313 | UHRF1 Antibody (YA1056) | WB | Human, Mouse |
| HY-P81313A | UHRF1 Antibody (YA1057) | IHC-P | Human |
| HY-P81313AA | UHRF1 Antibody (YA1057)(PBS only) | IHC-P | Human |
| HY-P84743 | UHRF1 Antibody (YA4440) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84743A | UHRF1 Antibody (YA4440)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P85479 | UHRF1 Antibody (YA5171) | WB, ICC/IF | Human |
| HY-P85483 | UHRF1(N-term) Antibody (YA5175) | WB | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Colorectal Cancer |
|
|
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
|
| Retinoblastoma |
|
|
| Oligospermia |
|
|
| Oculoauricular Syndrome |
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
|
| Cartilage-Hair Hypoplasia |
|
|
| Breast Cancer |
|
|
| Neuropathy, Hereditary Sensory, Type Ie |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | UHRF1 | MGD | MGI:1338889 |
| Macaca mulatta | UHRF1 | VGNC | VGNC:78713 |
| Bos taurus | UHRF1 | VGNC | VGNC:36654 |
| Rattus norvegicus | UHRF1 | RGD | RGD:1595855 |
| Canis familiaris | UHRF1 | VGNC | VGNC:48123 |
| Others | UHRF1 | NCBI |