UBE3B ubiquitin protein ligase E3B
Gene ID: 89910, updated on 3-Apr-2024Gene type: protein coding
Also known as: KOS; BPIDS
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- Go to complete Gene record for UBE3B
- Go to Variation Viewer for UBE3B variants
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
Description | Tests |
---|---|
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available | |
Oculocerebrofacial syndrome, Kaufman type | See labs |
Genomic context
- Location:
- 12q24.11
- Sequence:
- Chromosome: 12; NC_000012.12 (109477634..109547829)
- Total number of exons:
- 32
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for UBE3B variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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