Ubiquitin-Protein Ligase E3B

Alternative Names

  • UBE3B
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OMIM Number

608047

NCBI Gene ID

89910

Uniprot ID

Q7Z3V4

Length

66,219 bases

No. of Exons

31

No. of isoforms

3

Protein Name

Ubiquitin-protein ligase E3B

Molecular Mass

123098 Da

Amino Acid Count

1068

Genomic Location

chr12:109,477,409-109,543,627

Gene Map Locus
12q24.11

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_130466.3:c.2252A>GUnited Arab EmiratesNC_000012.12:g.109521323A>GLikely PathogenicKaufman Oculocerebrofacial SyndromeNG_033898.1:g.48701A>G; NM_130466.3:c.2252A>G; NP_569733.2:p.Lys751Arg
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