UBE3A

UBE3A
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4GIZ, 1C4Z, 1D5F, 1EQX, 2KR1
Identifiers
Aliases	UBE3A, ANCR, AS, E6-AP, EPVE6AP, HPVE6A, ubiquitin protein ligase E3A, PIX1
External IDs	OMIM: 601623 MGI: 105098 HomoloGene: 7988 GeneCards: UBE3A
Gene location (Human)
Chr.	Chromosome 15 (human)
End	25,439,051 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	59,311,536 bp
RNA expression pattern
	Top expressed in
	sperm; ; Achilles tendon; ; nipple; ; vastus lateralis muscle; ; pylorus; ; cardia; ; right ventricle; ; ganglionic eminence; ; thoracic diaphragm; ; body of tongue;
	Top expressed in
	vas deferens; ; pineal gland; ; ventromedial nucleus; ; medial ganglionic eminence; ; arcuate nucleus; ; median eminence; ; paraventricular nucleus of hypothalamus; ; lateral hypothalamus; ; ciliary body; ; ventral tegmental area;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	metal ion binding; transcription coactivator activity; ubiquitin-protein transferase activity; protein binding; ubiquitin protein ligase activity; transferase activity;
Cellular component	cytosol; proteasome complex; nucleus; cytoplasm;
Biological process	ubiquitin-dependent protein catabolic process; prostate gland growth; rhythmic process; proteolysis; positive regulation of phosphatidylinositol 3-kinase signaling; protein K48-linked ubiquitination; viral process; brain development; regulation of ubiquitin-dependent protein catabolic process; ovarian follicle development; sperm entry; protein ubiquitination; positive regulation of protein ubiquitination; positive regulation of transcription by RNA polymerase II; protein autoubiquitination; regulation of circadian rhythm; androgen receptor signaling pathway; response to progesterone; progesterone receptor signaling pathway; protein polyubiquitination; proteasome-mediated ubiquitin-dependent protein catabolic process; response to cocaine; response to hydrogen peroxide; negative regulation of dendritic spine morphogenesis; cellular response to brain-derived neurotrophic factor stimulus;
	Sources:Amigo / QuickGO
Orthologs
	7337
	22215
	ENSG00000114062
	ENSMUSG00000025326
	Q05086
	O08759
NM_000462; NM_130838; NM_130839; NM_001354505; NM_001354506;
	NM_001354509; NM_001354512; NM_001354523; NM_001354526; NM_001354540; NM_001354541; NM_001354543; NM_001354545; NM_001354547; NM_001354549; NM_001354550; NM_001354507; NM_001354508; NM_001354511; NM_001354513; NM_001354538; NM_001354539; NM_001354542; NM_001354544; NM_001354546; NM_001354548; NM_001354551; NM_001374461
	NM_001033962; NM_011668; NM_173010
NP_000453; NP_570853; NP_570854; NP_001341434; NP_001341435;
	NP_001341438; NP_001341441; NP_001341452; NP_001341455; NP_001341469; NP_001341470; NP_001341472; NP_001341474; NP_001341476; NP_001341478; NP_001341479; NP_001341436; NP_001341437; NP_001341440; NP_001341442; NP_001341467; NP_001341468; NP_001341471; NP_001341473; NP_001341475; NP_001341477; NP_001341480; NP_001361390
NP_001029134; NP_035798; NP_001380595; NP_001380597; NP_001380598;
	NP_001380599; NP_001380600; NP_001380601; NP_766598; NP_001380902
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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. 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" (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.

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