| Entrez Gene ID | 23032 |
|---|---|
| Official Gene Symbol | USP33 (GeneCards) |
| Full name | ubiquitin specific peptidase 33 |
| Location | 1p31.1 |
| Other ids | Vega : OTTHUMG00000009651 MIM : 615146 HGNC : HGNC:20059 Ensembl : ENSG00000077254 |
| Other names | VDU1 |
| Summary | This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 2701 | 23032 | USP33 | 1 | 78224913 | 78224913 | Cockayne syndrome | HiSeq X Ten |
| 29713 | 23032 | USP33 | 1 | 78163012 | 78163012 | Autism Spectrum Disorders | HiSeq X Ten NextSeq500 |