What does UBE3A gene do?
The UBE3A gene provides instructions for making a protein called ubiquitin protein ligase E3A. Ubiquitin protein ligases are enzymes that target other proteins to be broken down (degraded) within cells. These enzymes attach a small molecule called ubiquitin to proteins that should be degraded.
What protein does UBE3A code for?
Ubiquitin Protein Ligase E3A
One of the major genes implicated in ASDs is the Ubiquitin Protein Ligase E3A, UBE3A, the gene that encodes E6AP, a protein that is expressed in an imprinted manner in the brain.
What protein is affected in Angelman syndrome?
Angelman syndrome is a severe neurological disorder characterized by mental retardation, absent speech, ataxia, seizures, and hyperactivity. The gene affected in this disorder is UBE3A, the gene encoding the E6-associated protein (E6AP) ubiquitin-protein ligase.
Where is UBE3A found?
(A) The UBE3A gene is located on chromosome 15 within the region of 15q11-15q13. (B) Within the chromosome region 15q11-q13, the gene UBE3A is maternally imprinted in the brain.
How does UBE3A regulate the protein level of PtpA?
UBE3A Regulates the Protein Level of PP2A Activator PTPA. We thus used stable isotope labeling of amino acids in mammals (SILAM) combined with quantitative mass spectrometry ( 18) to systematically screen for proteins whose levels are altered in Ube3am−/p+ mice at P14–P17 ( SI Appendix, Fig. S2 D ).
What is the function of the UBE3A gene?
The UBE3A gene provides instructions for making a protein called ubiquitin protein ligase E3A. Ubiquitin protein ligases are enzymes that target other proteins to be broken down (degraded) within cells.
What is the function of ubiquitin ligase E3A?
Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins (PubMed: 19233847 ). Finally, UBE3A also promotes its own degradation in vivo.
What is the function of Ube3a in the circadian clock?
“The E3 ubiquitin ligase UBE3A is an integral component of the molecular circadian clock through regulating the BMAL1 transcription factor.” Cited for: FUNCTION, INTERACTION WITH ARNTL. “WW domain binding protein-2, an E6-associated protein interacting protein, acts as a coactivator of estrogen and progesterone receptors.”
