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UBE3A

Reviewed November 2006

What is the official name of the UBE3A gene?

The official name of this gene is “ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome).”

UBE3A is the gene's official symbol. The UBE3A gene is also known by other names, listed below.

What is the normal function of the UBE3A gene?

The UBE3A gene provides instructions for making an enzyme called ubiquitin protein ligase E3A. This enzyme is involved in targeting proteins to be broken down (degraded) within cells. For example, the p53 protein, which controls cell growth and division, is one of the targets of ubiquitin protein ligase E3A. Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells.

Ubiquitin protein ligase 3A attaches a small 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 the brain, however, only the copy inherited from a person's mother (the maternal copy) is normally active. This parent-specific gene activation is known as genomic imprinting.

How are changes in the UBE3A gene related to health conditions?

Angelman syndrome - caused by mutations in the UBE3A gene

A loss of UBE3A gene function likely causes many of the characteristic features of Angelman syndrome. Several different genetic mechanisms can result in the inactivation or absence of this gene. In some cases, Angelman syndrome results from mutations within the UBE3A gene itself. Most of these mutations lead to the production of an abnormally short, nonfunctional version of ubiquitin protein ligase E3A. Because the copy of the gene inherited from a person's father (the paternal copy) is normally inactive in the brain, a mutation in the remaining maternal copy prevents any of the enzyme from being produced in the brain. This loss of enzyme function likely causes the characteristic features of Angelman syndrome.

Abnormalities involving the region of chromosome 15 that contains the UBE3A gene also cause Angelman syndrome. These chromosomal changes include deletions, rearrangements (translocations) of genetic material, and other abnormalities. Like mutations within the gene, these chromosomal changes prevent any functional ubiquitin protein ligase E3A from being produced in the brain.

Where is the UBE3A gene located?

Cytogenetic Location: 15q11-q13

Molecular Location on chromosome 15: base pairs 23,133,488 to 23,235,220

The UBE3A gene is located on the long (q) arm of chromosome 15 between positions 11 and 13.

The UBE3A gene is located on the long (q) arm of chromosome 15 between positions 11 and 13.

More precisely, the UBE3A gene is located from base pair 23,133,488 to base pair 23,235,220 on chromosome 15.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about UBE3A?

You and your healthcare professional may find the following resources about UBE3A helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the UBE3A gene or gene products?

  • ANCR
  • CTCL tumor antigen se37-2
  • E6-AP
  • E6AP ubiquitin-protein ligase
  • EPVE6AP
  • HPVE6A
  • human papilloma virus E6-associated protein
  • oncogenic protein-associated protein E6-AP
  • UBE3A_HUMAN

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding UBE3A?

antigens ; cell ; chromosome ; deletion ; enzyme ; gene ; imprinting ; ligase ; maternal ; mutation ; papilloma ; proteasome ; protein ; rearrangement ; syndrome ; tissue ; translocation ; tumor ; ubiquitin ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (7 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: November 2006
Published: January 23, 2009