UBE3D (ubiquitin protein ligase E3D)

2014-11-01  

Identity

HGNC
UBE3D
LOCATION
6q14.1
LOCUSID
90025
ALIAS
C6orf157,H10BH,UBE2CBP,YJR141W
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 90025
MIM: 612495
HGNC: 21381
Ensembl: ENSG00000118420

Variants:

dbSNP: 90025
ClinVar: 90025
TCGA: ENSG00000118420
COSMIC: UBE3D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118420ENST00000237186J3KMY4
ENSG00000118420ENST00000369746H0Y359
ENSG00000118420ENST00000369747Q7Z6J8
ENSG00000118420ENST00000430071D6RHY9
ENSG00000118420ENST00000505226Q4G0X5
ENSG00000118420ENST00000509102D6RD24
ENSG00000118420ENST00000626828Q4G0X5

Expression (GTEx)

0
1
2
3
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
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
269621522016Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease.29
258726462015Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations.12
157498272005A novel UbcH10-binding protein facilitates the ubiquitinylation of cyclin B in vitro.6

Citation

Dessen P

UBE3D (ubiquitin protein ligase E3D)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75426/ube3d