Details for Gene UBE3A

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 OLI495; OLI479; OLI496; OLI477; OLI488
2 variants linked to UBE3A UBE3A:; UBE3A:
1 disease linked to UBE3A Rare pervasive developmental disorder

Found any issues with the data on this page? Report this entry.