UBE3A

<templatestyles src="Module:Infobox/styles.css"></templatestyles>

Ubiquitin protein ligase E3A
250px
Structure of an E6AP-UbcH7 complex PDB rendering based on 1c4z.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols UBE3A ; ANCR; AS; E6-AP; EPVE6AP; HPVE6A
External IDs OMIM601623 MGI105098 HomoloGene7988 GeneCards: UBE3A Gene
EC number 6.3.2.19
RNA expression pattern
File:PBB GE UBE3A 211285 s at tn.png
File:PBB GE UBE3A 211575 s at tn.png
File:PBB GE UBE3A 213128 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7337 22215
Ensembl ENSG00000114062 ENSMUSG00000025326
UniProt Q05086 O08759
RefSeq (mRNA) NM_000462 NM_001033962
RefSeq (protein) NP_000453 NP_001029134
Location (UCSC) Chr 15:
25.33 – 25.44 Mb
Chr 7:
59.23 – 59.31 Mb
PubMed search [1] [2]

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 the brain, however, only the copy inherited from a person's mother (the maternal copy) is normally active; this is known as paternal imprinting. 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.

Contents

Clinical significance

Mutations within the UBE3A gene are responsible for some cases of Angelman syndrome and Prader-Willi syndrome. Most of these mutations result in 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 these two conditions.

The UBE3A gene lies within the human chromosomal region 15q11-13. Other abnormalities in this region of chromosome 15 can 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.

Interactions

UBE3A has been shown to interact with:

<templatestyles src="Div col/styles.css"/>

References

  1. 1.0 1.1 Lua error in package.lua at line 80: module 'strict' not found.
  2. Lua error in package.lua at line 80: module 'strict' not found.
  3. Lua error in package.lua at line 80: module 'strict' not found.
  4. Lua error in package.lua at line 80: module 'strict' not found.
  5. Lua error in package.lua at line 80: module 'strict' not found.
  6. Lua error in package.lua at line 80: module 'strict' not found.
  7. 7.0 7.1 Lua error in package.lua at line 80: module 'strict' not found.
  8. Lua error in package.lua at line 80: module 'strict' not found.
  9. 9.0 9.1 Lua error in package.lua at line 80: module 'strict' not found.
  10. Lua error in package.lua at line 80: module 'strict' not found.
  11. Lua error in package.lua at line 80: module 'strict' not found.
  12. 12.0 12.1 Lua error in package.lua at line 80: module 'strict' not found.

Further reading

  • Lua error in package.lua at line 80: module 'strict' not found.
  • Lua error in package.lua at line 80: module 'strict' not found.
  • Lua error in package.lua at line 80: module 'strict' not found.
  • Lua error in package.lua at line 80: module 'strict' not found.
  • Lua error in package.lua at line 80: module 'strict' not found.
  • Lua error in package.lua at line 80: module 'strict' not found.

External links