UBE3A

Name

ubiquitin protein ligase E3A

Type

protein-coding

Position

25,333,728–25,439,122 (−)

Aliases

ANCR, AS, E6-AP, EPVE6AP, HPVE6A, PIX1

Ensembl

ENSG00000114062

RefSeq RNA

NM_000462.5, NM_001354505.1, NM_001354506.2, NM_001354507.2, NM_001354508.2

RefSeq protein

NP_000453.2, NP_001341434.1, NP_001341435.1, NP_001341436.1, NP_001341437.1

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008].

via MyGene.info

Gene · Ensembl

ubiquitin protein ligase E3A

Symbol

UBE3A

Biotype

Protein coding

Organism

Homo sapiens

Location

15:25,333,728-25,439,122

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

Protein UBE3A PDB 1c4z.png

via Wikidata · CC0