Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Ube3a. (This text reflects annotations as of Thursday, January 16, 2014.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Ube3a
  • participates in the following biological processes:
    • protein ubiquitination ^[1]
    • regulation of RNA biosynthetic process ^[2]
    • ubiquitin-dependent protein catabolic process ^[2]
  • performs the following molecular functions:
    • transcription coactivator activity ^[2]
    • ubiquitin-protein ligase activity ^[1]
  • is located in the following cellular components:
    • cytosol ^[1]
    • nucleus ^[1]
• The gene product of Ube3a has been shown to bind to the gene products of Ar. ^{[1, 2]} Researchers have inferred, based on physical interactions, that the gene product of Ube3a
  • participates in the following biological processes:
    • androgen receptor signaling pathway ^[2]
  • performs the following molecular functions:
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ube3a
  • participates in the following biological processes:
    • ovarian follicle development ^[3]
    • positive regulation of phosphatidylinositol 3-kinase signaling ^[2]
    • prostate gland growth ^{[2, 3]}
    • sperm entry ^[3]
• Researchers have inferred, based on genetic interactions, that the gene product of Ube3a
  • participates in the following biological processes:
    • positive regulation of transcription from RNA polymerase II promoter based on interactions with Ar ^[2]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Ube3a:
  • participates in the following biological processes:
    • protein K48-linked ubiquitination
    • protein ubiquitination involved in ubiquitin-dependent protein catabolic process
  • performs the following molecular functions:
    • ubiquitin-protein ligase activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ube3a indicates that it:
  • performs the following molecular functions:
    • ligase activity
  • is located in the following cellular components:
    • cytoplasm
    • proteasome complex

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References

1. Hatakeyama S et al. (1997) Subcellular localization and ubiquitin-conjugating enzyme (E2) interactions of mammalian HECT family ubiquitin protein ligases. J Biol Chem, 272:15085-92. (PubMed:9182527)
2. Khan OY et al. (2006) Multifunction steroid receptor coactivator, E6-associated protein, is involved in development of the prostate gland. Mol Endocrinol, 20:544-59. (PubMed:16254014)
3. Smith CL et al. (2002) Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction. Mol Cell Biol, 22:525-35. (PubMed:11756548)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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