Background：This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined.
仕様
Synonyms：ANCR,Angelman syndrome,AS,CTCL tumor antigen se37 2,CTCL tumor antigen se37-2,E6 AP,E6AP,E6AP ubiquitin protein ligase,E6AP ubiquitin-protein ligase,EPVE6AP,FLJ26981,HECT-type ubiquitin transferase E3A,HPVE6A,Human papilloma virus E6 associated protein Angelman syndrome,Human papilloma virus E6 associated protein,Human papillomavirus E6-associated protein,NY REN 54 antigen,Oncogenic protein associated protein E6 AP,Oncogenic protein associated protein E6AP,Oncogenic protein-associated protein E6-AP,Renal carcinoma antigen NY REN 54,Renal carcinoma antigen NY-REN-54,UBE 3A,Ube3a,UBE3A protein,UBE3A,Ubiquitin protein ligase E3A,Ubiquitin-protein ligase E3A
Host：Rabbit
Reactivity：Human,Mouse,Rat
Applications：WB,IHC
Concentration：1mg/ml
Immunogen：Recombinant protein of human UBE3A
Purification Method：Affinity purification
Clonality：Polyclonal
Conjugation：Unconjugated
Buffer：Buffer： PBS with 0.02％ sodium azide, 50％ glycerol, pH7.3.
Dilution：WB1：500 - 1：2000 IHC1：50 - 1：200
Gene_ID（human）：7337
Swissprot：Q05086
Isotype：IgG
Research Areas：Cell Biology, Epigenetics and Nuclear Signaling, Neuroscience
