UBE3B (ubiquitin protein ligase E3B)

2007-04-01  

Identity

HGNC
UBE3B
LOCATION
12q24.11
LOCUSID
89910
ALIAS
BPIDS,KOS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384109822024Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.0
389145432024VHL suppresses UBE3B-mediated breast tumor growth and metastasis.0
384109822024Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.0
389145432024VHL suppresses UBE3B-mediated breast tumor growth and metastasis.0
377837862023UBE3B promotes breast cancer progression by antagonizing HIF-2α degradation.2
377837862023UBE3B promotes breast cancer progression by antagonizing HIF-2α degradation.2
329491092020Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.2
332989112020TRIB3 promotes MYC-associated lymphoma development through suppression of UBE3B-mediated MYC degradation.19
329491092020Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.2
332989112020TRIB3 promotes MYC-associated lymphoma development through suppression of UBE3B-mediated MYC degradation.19
291600062018Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.5
291600062018Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.5
280033682017UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.20
280033682017UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.20
280036432017Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.5

Citation

Dessen P

UBE3B (ubiquitin protein ligase E3B)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

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