Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded by the UBE3A gene. This enzyme is involved in targeting proteins for degradation within cells.
Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells.
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.
Collision model of UBE3A
Both copies of the UBE3A gene are active in most of the body's tissues. In most neurons, however, only the copy inherited from a person's mother (the maternal copy) is normally active; this is known as paternal imprinting. Recent evidence shows that at least some glial cells and neurons may exhibit biallelic expression of UBE3A.[5][6] Further work is thus needed to delineate a complete map of UBE3A imprinting in humans and model organisms such as mice.
Silencing of Ube3a on the paternal allele is thought to occur through the Ube3a-ATS part of a lincRNA called "LNCAT"[7] (Large Non-Coding Antisense Transcript).
The UBE3A gene is located on the long (q) arm of chromosome 15 between positions 11 and 13, from base pair 23,133,488 to base pair 23,235,220.
^ abcGRCh38: Ensembl release 89: ENSG00000114062 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000025326 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Jones KA, Han JE, DeBruyne JP, Philpot BD (June 2016). "Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice". Scientific Reports. 6 (1): 28238. Bibcode:2016NatSR...628238J. doi:10.1038/srep28238. PMC 4910164. PMID 27306933.
^Grier MD, Carson RP, Lagrange AH (2015-04-20). "Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells". PLOS ONE. 10 (4): e0124649. Bibcode:2015PLoSO..1024649G. doi:10.1371/journal.pone.0124649. PMC 4403805. PMID 25894543.
^Runte M, Hüttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K (November 2001). "The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A". Human Molecular Genetics. 10 (23): 2687–700. doi:10.1093/hmg/10.23.2687. PMID 11726556.
Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded by the UBE3A gene. This enzyme is...
than one inherited. Most often it is due to a deletion or mutation of the UBE3A gene on that chromosome. Occasionally it is due to the inheritance of two...
protein ligase E3A. UBE3A is expressed in most body tissues. However, in neurons only the maternal copy of the gene is expressed. UBE3A is located on chromosome...
likely involved in the etiology of Dup15q syndrome include UBE3A, GABRA5, GABRB3, and GABRG3. UBE3A is a ubiquitin-protein ligase that is involved in targeting...
E6 (purple), as obtained by X-ray crystallography, shown bound to the LxxLL peptide motif of the human protein UBE3A (cyan). Rendered from PDB: 4GIZ....
paternally expressed genes SNRPN and NDN and the maternally expressed gene UBE3A. Paternal inheritance of a deletion of this region is associated with Prader-Willi...
epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A". American Journal of Medical Genetics. Part A. 131 (1): 1–10. doi:10.1002/ajmg...
PMC 3072458. PMID 11077444. "iHOP information Hyperlinked over Proteins UBE3A". Archived from the original on 2007-09-27. Retrieved 2007-05-01. "Biochemistry...
cellular protein called the E6-associated protein (E6-AP, also known as UBE3A), forming a complex which causes the rapid and specific ubiquitination of...
ubiquitin in immune regulation. Angelman syndrome is caused by a disruption of UBE3A, which encodes a ubiquitin ligase (E3) enzyme termed E6-AP. Von Hippel–Lindau...
fluorescent-in-situ-hybridization has confirmed the presence of either SNRPN or UBE3A (a neighboring gene that is also imprinted), the methylation test (of SNRPN)...
of UBE3A-AS gene, the gene that causes repression of the paternal UBE3A gene. Zinc finger ATF TAT-S1 acts as a strong repressor against the UBE3A-AS gene...
of which has since been shown to occur. His group co-discovered that the UBE3A gene was inactivated as the cause of Angelman syndrome, and that deletion...
intron of the large paternally-expressed transcription unit (SNURF-SNRNP-UBE3A AS) along with several other snoRNAs HBII-436, HBII-437, HBII-438A/B and...
extra copies of just a single gene present in the 15q11.2-q13.1 region, Ube3a, into mice to model the gene copy number expressed in the brain in idic(15)...
host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A". Human Molecular Genetics. 10 (23): 2687–700. doi:10.1093/hmg/10.23.2687...
been implicated in regulation of imprinted genes and loci that include UBE3A and DLX5. Reduced expression of MECP2 in Mecp2+/- neural stem cells causes...
Global Information
