UBE3B (ubiquitin protein ligase E3B)

2007-04-01  

Identity

HGNC
LOCATION
12q24.11
LOCUSID
ALIAS
BPIDS,KOS
FUSION GENES

Other Information

Locus ID:

NCBI: 89910
MIM: 608047
HGNC: 13478
Ensembl: ENSG00000151148

Variants:

dbSNP: 89910
ClinVar: 89910
TCGA: ENSG00000151148
COSMIC: UBE3B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151148ENST00000340074Q7Z3V4
ENSG00000151148ENST00000342494Q7Z3V4
ENSG00000151148ENST00000342494A0A024RBI2
ENSG00000151148ENST00000434735Q7Z3V4
ENSG00000151148ENST00000434735A0A024RBI2
ENSG00000151148ENST00000449510Q7Z3V4
ENSG00000151148ENST00000536398Q7Z3V4
ENSG00000151148ENST00000537063F5H6D6
ENSG00000151148ENST00000539599F5H5T5
ENSG00000151148ENST00000540230Q7Z3V4
ENSG00000151148ENST00000605142S4R3H8

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
232008642012Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.24
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.17
236873482013Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.14
128372652003Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.13
280033682017UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.7
280033682017UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.7
246153902014Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.5
256914202015Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.5
291600062018Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.2

Citation

Dessen P

UBE3B (ubiquitin protein ligase E3B)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47382/ube3b