Gene: [15q1/UBE3A] ubiquitin protein ligase E3A; human papilloma virus E6-associated protein; Angelman syndrome (AS; happy puppet syndrome; MIM:105830);
FUN | [1] E6-AP
ubiquitin protein ligase E3A transfers ubiquitin (FAM:UBQ/00.0) to protein
substrates in the ubiquitin-proteosome proteolytic pathway. [2] The catalyzed reaction: ATP + ubiquitin + protein lysine = AMP + pyrophosphate + protein N-ubiquityllysine." |
EXP | The imprinting of the UBE3A gene is restricted to brain but its expression is biallelic in fibroblasts, lymphoblasts, heart, kidney, and other tissues (Vu-1997; Rougeulle-1997)." |
PSG | GEM:00.0/UBE3AP1; GEM:00.0/UBE3AP2. |
REF | HIS,PAT
"Angelman H: Dev Med Child Neurol, 7, 681-683, 1965 LOC,LIN,CYG "Donlon TA &: Hum Genet, 80, 322-328, 1988 CLO,SEQ,LOC "Huibregtse JM &: Mol Cell Biol, 13, 775-784, 1993 LOC,LIN,CYG "Kaplan LC &: Am J Med Genet, 28, 45-53, 1987 MUT,PAT "Kishino T &: Nature Genet, 15, 70-73, 1997 LOC,LIN,CYG "Knoll JH &: Am J Med Genet, 32, 285-290, 1989 LOC,LIN,CYG "Magenis &: Am J Med Genet, 28, 828-829, 1987 MUT,PAT "Matsuura T &: Nature Genet, 15, 74-77, 1997 LOC,LIN,CYG "Pembrey M &: J Med Genet, 26, 73-77, 1989 PAT,MUT,EXP "Rougeulle C &: Nature Genet, 17, 14-15, 1997 CLO,LOC "Scheffner M &: Cell, 75, 495-505, 1993 ABR "Sinett D &: AJHG, 52, N6, 1216-1229, 1993 PAT,MUT,EXP "Vu TH, Hoffman AR: Nature Genet, 17, 12-13, 1997 FUN "White L &: Am J Med Genet, 56, N1, 101-105, 1995 |
SWI | SWISSPROT: Q05086 |
KEY | repr, ont, horm, neu |
CLA | coding, basic |
LOC | 15 q11-12 |
MIM | MIM: 601623 |
EZN | ENZYME: 6.3.2.19 |
