Aliases for UBE4A Gene
External Ids for UBE4A Gene
Previous GeneCards Identifiers for UBE4A Gene
This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
GeneCards Summary for UBE4A Gene
UBE4A (Ubiquitination Factor E4A) is a Protein Coding gene. Diseases associated with UBE4A include Rare Pervasive Developmental Disorder and Pervasive Developmental Disorder. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-ubiquitin ligase activity. An important paralog of this gene is UBE4B.
UniProtKB/Swiss-Prot Summary for UBE4A Gene
Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates.