GENE NAME | UBE3A |
CHROMOSOME | 15 |
ENSEMBL ID | ENSG00000114062 |
ENTREZ ID | 7337 |
UNIPROT ACCESSION NUMBER | Q05086 |
GO MOLECULAR FUNCTION | ubiquitin-protein transferase activity; ubiquitin protein ligase activity; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa05203; hsa05165; R-HSA-983169; hsa04120; R-HSA-1280218; R-HSA-983168; R-HSA-168256 |
5 combinations linked to UBE3A | OLI477; OLI488; OLI496; OLI495; OLI479 |
2 variants linked to UBE3A | UBE3A:; UBE3A: |
1 disease linked to UBE3A | Rare pervasive developmental disorder |