UBE3B Chromosome 12
Ubiquitin protein ligase E3B
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What This Gene Does
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]
Gene Info
Gene Group
HECT domain containing
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000151148
Associated Conditions (5)
Inborn genetic diseases
Oculocerebrofacial syndrome
Kaufman type
Optic nerve hypoplasia
Blepharophimosis - intellectual disability syndrome
Key Variants
RS138717457
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201028903
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202144137
Conflicting classifications of pathogenicity
Inborn genetic diseases, Oculocerebrofacial syndrome, Kaufman type
Health Risk
RS753221661
Conflicting classifications of pathogenicity
Optic nerve hypoplasia, Oculocerebrofacial syndrome, Kaufman type
Health Risk
RS773663593
Conflicting classifications of pathogenicity
Health Risk
RS1266899670
Likely pathogenic
Health Risk
RS1592972259
Likely pathogenic
Oculocerebrofacial syndrome, Kaufman type, Oculocerebrofacial syndrome
Health Risk
RS2135832115
Likely pathogenic
Oculocerebrofacial syndrome, Kaufman type, Oculocerebrofacial syndrome
Health Risk
RS2548498375
Likely pathogenic
Health Risk
RS2548522797
Likely pathogenic
Health Risk
RS2548523843
Likely pathogenic
Oculocerebrofacial syndrome, Kaufman type, Oculocerebrofacial syndrome
Health Risk
RS2548532884
Likely pathogenic
Oculocerebrofacial syndrome, Kaufman type, Oculocerebrofacial syndrome
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886041886 | Health Risk | Pathogenic | — |
| RS918170054 | Health Risk | Pathogenic | Oculocerebrofacial syndrome, Kaufman type, Oculocerebrofacial syndrome |
| RS934035216 | Health Risk | Pathogenic | — |
| RS1037348200 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1304422857 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Oculocerebrofacial syndrome, Kaufman type |
| RS539407162 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Oculocerebrofacial syndrome, Kaufman type |
| RS746058354 | Health Risk | Pathogenic/Likely pathogenic | Oculocerebrofacial syndrome, Kaufman type, Oculocerebrofacial syndrome |
| RS750360032 | Health Risk | Pathogenic/Likely pathogenic | Oculocerebrofacial syndrome, Kaufman type, Oculocerebrofacial syndrome |