About: UBE3A wt Allele     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • UBE3A wt Allele
rdfs:subClassOf
OMIM_Number
  • 601623
GenBank_Accession_Number
  • NM_000462
Semantic_Type
  • Gene or Genome
Preferred_Name
  • UBE3A wt Allele
UMLS_CUI
  • C2700100
EntrezGene_ID
  • 7337
Legacy_Concept_Name
  • UBE3A_wt_Allele
HGNC_ID
  • HGNC:12496
FULL_SYN
  • Ubiquitin Protein Ligase E3A (Human Papilloma Virus E6-Associated Protein, Angelman Syndrome) wt AlleleSYNCI
  • ASSYNCI
  • UBE3A wt AllelePTNCI
  • ANCRSYNCI
  • E6-APSYNCI
  • HPVE6ASYNCI
  • EPVE6APSYNCI
  • FLJ26981SYNCI
  • EC 6.3.2.19SYNCI
DEFINITION
  • Human UBE3A wild-type allele is located within 15q11-q13 and is approximately 102 kb in length. This allele, which encodes ubiquitin-protein ligase E3A, plays a role in protein turnover by targeting substrate proteins for degradation. Mutations in this gene are associated with Angelman syndrome.NCI
DesignNote
  • The inheritance of Angelman syndrome reveals the UBE3A locus is imprinted. Jiang (1998) generated transgenic mice with the maternal or paternal UBE3A genes knocked out and compared them with their wildtype (m+/p+) littermates. Mice with paternal deficiency (m+/p-) were essentially similar to wt mice. The phenotype of mice with maternal deficiency (m-/p+) resembles that of human AS with motor dysfunction, inducible seizures, and a context-dependent learning deficit. The absence of detectable expression of UBE3a in hippocampal neurons and Purkinje cells in m-/p+ mice, indicating imprinting with silencing of the paternal allele, correlated well with the neurologic and cognitive impairments. The cytoplasmic abundance of p53 was found to be greatly increased in Purkinje cells and in a subset of hippocampal neurons in m-/p+ mice, as well as in a deceased AS patient. Jiang suggested that failure of Ube3a to ubiquitinate target proteins and promote their degradation could be a key aspect of the pathogenesis of AS.
code
  • C75436
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