What protein does UBE3A code for?
What protein does UBE3A code for?
Ubiquitin Protein Ligase E3A
Genomic Imprinting and Regulation of UBE3A/E6AP. 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.
What does the SHANK3 gene do?
The SHANK3 gene provides instructions for making a protein that is found in many of the body’s tissues but is most abundant in the brain. The SHANK3 protein plays a role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs.
What does SHANK3 stand for?
SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 (ProSAP2), is a protein that in humans is encoded by the SHANK3 gene on chromosome 22. Additional isoforms have been described for this gene but they have not yet been experimentally verified.
Where is the SHANK3 gene found?
“SHANK3 gene is located at the tip of chromosome 22, specifically in the 22q13 region.
What protein does chromosome 15 produce?
The human leukocyte antigen gene for β2-microglobulin is found at chromosome 15, as well as the FBN1 gene, coding for both fibrillin-1 (a protein critical two proper functioning of connective tissue, and aprosin, a small protein produced from part of the transcribed FBN1 gene mRNA.
What is 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. These enzymes attach a small molecule called ubiquitin to proteins that should be degraded.
Why is UBE3A upregulated in E6AP?
A region of E6AP amino-terminal to the LXXLL peptide motif both augments association with E6 proteins and is required for E6 proteins to trigger ubiquitin ligase activity in the carboxy-terminal HECT ubiquitin ligase domain. UBE3A upregulation blocks the TLR4/MMP-9 signaling pathway and inhibits cardiac hypertrophy induced by isoproterenol.
What is ubiquitin protein ligase E3A?
Ubiquitin protein ligase E3A attaches a small marker protein called ubiquitin to proteins that should be degraded. Cellular structures called proteasomes recognize and digest proteins tagged with ubiquitin. Both copies of the UBE3A gene are active in most of the body’s tissues.
Is UBE3A a marker for expression variability in early-stage human embryos?
Results from a study on gene expression variability markers in early-stage human embryos shows that UBE3A is a putative expression variability marker for the 3-day, 8-cell embryo stage. The divergence of E6 proteins from either MAML1 or E6AP binding preference is a major event in papillomavirus evolution.
