WDR48
Summary: The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| WD repeat domain 48 | MIM:612167 | Ensembl:ENSG00000114742 | HGNC:HGNC:30914 | PA134956949 | 3p22.2 |
GO terms in WDR48
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005764 | lysosome |
| CC | IEA | GO:0005770 | late endosome |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| BP | IEA | GO:0000724 | double-strand break repair via homologous recombination |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IEA | GO:0007338 | single fertilization |
| BP | IEA | GO:0016032 | viral process |
| BP | IDA | GO:0016579 | protein deubiquitination |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | IEA | GO:0035264 | multicellular organism growth |
| BP | TAS | GO:0042769 | DNA damage response, detection of DNA damage |
| BP | IEA | GO:0043588 | skin development |
| BP | IEA | GO:0048568 | embryonic organ development |
| BP | IEA | GO:0048705 | skeletal system morphogenesis |
| BP | IEA | GO:0048872 | homeostasis of number of cells |
| BP | IEA | GO:0050679 | positive regulation of epithelial cell proliferation |
| BP | IEA | GO:0072520 | seminiferous tubule development |
| BP | IEA | GO:1902525 | regulation of protein monoubiquitination |
| BP | IBA | GO:1903003 | positive regulation of protein deubiquitination |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0036459 | thiol-dependent ubiquitinyl hydrolase activity |
| MF | IBA | GO:0043130 | ubiquitin binding |
Gene expression in normal tissue: WDR48
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in WDR48
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | fanconi_pathway | Fanconi anemia pathway |
| kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
| reactome | R-HSA-110314 | Recognition of DNA damage by PCNA-containing replication complex |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689880 | Ub-specific processing proteases |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6783310 | Fanconi Anemia Pathway |
| reactome | R-HSA-73893 | DNA Damage Bypass |
| reactome | R-HSA-73894 | DNA Repair |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in WDR48
CLASSFICATION
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