Gene: UBE3B

Alternate names for this Gene: BPIDS|KOS

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.11

Description of this Gene: ubiquitin protein ligase E3B

Type of Gene: protein-coding

rs10744826 in UBE3B gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs1304422857 in UBE3B gene and Dysmorphic features PMID 29160006 2018 Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

PMID 28003643 2017 Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PMID 23687348 2013 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

PMID 24615390 2014 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

PMID 28003368 2017 UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.

PMID 25691420 2015 Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

PMID 12837265 2003 Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.

rs10744826 in UBE3B gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

rs398123023 in UBE3B gene and Kaufman oculocerebrofacial syndrome PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

rs1304422857 in UBE3B gene and Multiple congenital anomalies PMID 23687348 2013 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

PMID 29160006 2018 Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

PMID 25691420 2015 Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

PMID 12837265 2003 Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.

PMID 28003368 2017 UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.

PMID 24615390 2014 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

PMID 28003643 2017 Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

rs1304422857 in UBE3B gene and Muscle hypotonia PMID 28003643 2017 Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PMID 12837265 2003 Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.

PMID 23687348 2013 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

PMID 24615390 2014 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

PMID 28003368 2017 UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.

PMID 29160006 2018 Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

PMID 25691420 2015 Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

rs10744826 in UBE3B gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs1078424 in UBE3B gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.