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UBE3B ubiquitin protein ligase E3B

Gene ID: 89910, updated on 3-Apr-2024
Gene type: protein coding
Also known as: KOS; BPIDS

Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Oculocerebrofacial syndrome, Kaufman typeSee labs

Genomic context

Location:
12q24.11
Sequence:
Chromosome: 12; NC_000012.12 (109477634..109547829)
Total number of exons:
32

Links

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