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Gene Review

Ube3a  -  ubiquitin protein ligase E3A

Mus musculus

Synonyms: 4732496B02, 5830462N02Rik, A130086L21Rik, E6-AP ubiquitin protein ligase, Hpve6a, ...
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Disease relevance of Ube3a


Psychiatry related information on Ube3a

  • This study compares cortical EEG and architecture of the sleep-waking cycle in adult Ube3a m-/p+ mice compared with those of age-matched WT (m+/p+) mice, under baseline conditions or after 4-h sleep deprivation (SD) [6].

High impact information on Ube3a

  • Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons [7].
  • The major phenotypic features of AS correlate with the loss of maternal-specific expression of Ube3a in hippocampus and cerebellum as revealed in the mouse model [7].
  • Using mice with partial paternal UPD encompassing Ube3a to differentiate maternal and paternal expression, we found by in situ hybridization that expression of Ube3a in Purkinje cells, hippocampal neurons and mitral cells of the olfactory bulb in UPD mice was markedly reduced compared to non-UPD littermates [7].
  • We found that the phenotype of mice with maternal deficiency (m-/p+) for Ube3a resembles human AS with motor dysfunction, inducible seizures, and a context-dependent learning deficit [8].
  • Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a [9].

Biological context of Ube3a

  • Mice carrying the Snrpn - Ube3a deletion on the paternal chromosome showed severe growth retardation, hypotonia and approximately 80% lethality before weaning [1].
  • In addition, quantitative RT-PCR revealed a gene dosage effect in both cerebellum and cortex for all of the known imprinted genes assayed, except for Ube3a in cerebellum [10].
  • The unusual inheritance pattern of this phenotype suggests either genomic imprinting, known to occur in other local genes (Ube3a, Ipw), or an effect of maternal haploinsufficiency during pregnancy or lactation on body fat in the progeny [11].
  • We also show that the murine U exons have arisen by genomic duplication of segments that include elements of the IC, suggesting that the brain specific silencing of Ube3a is due to multiple alternatively spliced IC-Ube3a-ATS transcripts [12].
  • We also report a range of observations that challenges the widely accepted model of imprinted gene silencing of Ube3a [13].

Other interactions of Ube3a

  • The plo 1 region maps to mouse chromosome 7 (MMU 7) between two genes, Gabrb3 and Ube3a, which have been used as anchor points to generate an integrated deletion and physical map of plo 1 that encompasses about 1.2-1.3 Mb [14].

Analytical, diagnostic and therapeutic context of Ube3a

  • As Ube3a is only imprinted in brain, we evaluated Ube3a expression in brains of 15 different litters of neonatal or 8-week-old male Mecp2 mutant mice by real-time quantitative RT-PCR and western blot analysis [15].
  • Our data present evidence of brain cell type-specific imprinting, i.e. neuron-specific imprinting of Ube3a in primary brain cell cultures [9].
  • Maternal inheritance of the Ube3a mutant allele also causes impaired performance in tests of motor function and spatial learning, as well as abnormal hippocampal EEG recordings [16].


  1. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Tsai, T.F., Jiang, Y.H., Bressler, J., Armstrong, D., Beaudet, A.L. Hum. Mol. Genet. (1999) [Pubmed]
  2. Discovery of a novel, paternally expressed ubiquitin-specific processing protease gene through comparative analysis of an imprinted region of mouse chromosome 7 and human chromosome 19q13.4. Kim, J., Noskov, V.N., Lu, X., Bergmann, A., Ren, X., Warth, T., Richardson, P., Kouprina, N., Stubbs, L. Genome Res. (2000) [Pubmed]
  3. The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Chamberlain, S.J., Brannan, C.I. Genomics (2001) [Pubmed]
  4. Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome. Cheron, G., Servais, L., Wagstaff, J., Dan, B. Neuroscience (2005) [Pubmed]
  5. Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting. Kayashima, T., Yamasaki, K., Joh, K., Yamada, T., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Mukai, T., Niikawa, N., Kishino, T. Genomics (2003) [Pubmed]
  6. Sleep disturbances in Ube3a maternal-deficient mice modeling Angelman syndrome. Colas, D., Wagstaff, J., Fort, P., Salvert, D., Sarda, N. Neurobiol. Dis. (2005) [Pubmed]
  7. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Albrecht, U., Sutcliffe, J.S., Cattanach, B.M., Beechey, C.V., Armstrong, D., Eichele, G., Beaudet, A.L. Nat. Genet. (1997) [Pubmed]
  8. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Jiang, Y.H., Armstrong, D., Albrecht, U., Atkins, C.M., Noebels, J.L., Eichele, G., Sweatt, J.D., Beaudet, A.L. Neuron (1998) [Pubmed]
  9. Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Yamasaki, K., Joh, K., Ohta, T., Masuzaki, H., Ishimaru, T., Mukai, T., Niikawa, N., Ogawa, M., Wagstaff, J., Kishino, T. Hum. Mol. Genet. (2003) [Pubmed]
  10. Analysis of imprinting in mice with uniparental duplication of proximal chromosomes 7 and 15 by use of a custom oligonucleotide microarray. Buettner, V.L., Longmate, J.A., Barish, M.E., Mann, J.R., Singer-Sam, J. Mamm. Genome (2004) [Pubmed]
  11. A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat. Dhar, M., Webb, L.S., Smith, L., Hauser, L., Johnson, D., West, D.B. Physiol. Genomics (2000) [Pubmed]
  12. Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Landers, M., Bancescu, D.L., Le Meur, E., Rougeulle, C., Glatt-Deeley, H., Brannan, C., Muscatelli, F., Lalande, M. Nucleic Acids Res. (2004) [Pubmed]
  13. Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. Le Meur, E., Watrin, F., Landers, M., Sturny, R., Lalande, M., Muscatelli, F. Dev. Biol. (2005) [Pubmed]
  14. Physical mapping of the pink-eyed dilution complex in mouse chromosome 7 shows that Atp10c is the only transcript between Gabrb3 and Ube3a. Dhar, M.S., Hauser, L.J., Nicholls, R.D., Johnson, D.K. DNA Seq. (2004) [Pubmed]
  15. Ube3a expression is not altered in Mecp2 mutant mice. Jordan, C., Francke, U. Hum. Mol. Genet. (2006) [Pubmed]
  16. Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Miura, K., Kishino, T., Li, E., Webber, H., Dikkes, P., Holmes, G.L., Wagstaff, J. Neurobiol. Dis. (2002) [Pubmed]
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