| GENE NAME | HUWE1 |
| CHROMOSOME | X |
| ENSEMBL ID | ENSG00000086758 |
| ENTREZ ID | 10075 |
| UNIPROT ACCESSION NUMBER | Q7Z6Z7 |
| GO MOLECULAR FUNCTION | ubiquitin-protein transferase activity; ubiquitin protein ligase activity; protein binding; DNA binding; RNA binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-983169; hsa04120; R-HSA-6798695; hsa04120; R-HSA-983169; R-HSA-6798695; R-HSA-983168; hsa04120; R-HSA-1280218; R-HSA-168249; R-HSA-168256; R-HSA-983168; R-HSA-168256; hsa04120; R-HSA-1280218; R-HSA-168249 |
| 1 combination linked to HUWE1 | OLI932 |
| 1 variant linked to HUWE1 | HUWE1:c.12365G>A, p.Arg4122His |
| 1 disease linked to HUWE1 | Rare pervasive developmental disorder |