UBE3A

GENERAL INFORMATION

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Gene name

UBE3A

Gene description

Ubiquitin protein ligase E3A

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Mainly cytoplasmic but also nuclear staining in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 3 antibodies.
HPA039410 , HPA040380 , CAB009723
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

UBE3A (HGNC Symbol)

Synonyms

ANCR, AS, E6-AP, EPVE6AP, FLJ26981, HPVE6A

Description

Ubiquitin protein ligase E3A (HGNC Symbol)

Entrez gene summary

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

Chromosome

15

Cytoband

q11.2

Chromosome location (bp)

25333729 - 25439028

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000114062 (version 78.38)

Entrez gene

7337

UniProt

Q05086 (UniProt - Evidence at protein level)

neXtProt

NX_Q05086

Antibodypedia

UBE3A antibodies


PROTEIN BROWSER

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ENST00000232165
 
ENST00000397954
 
ENST00000428984
 
ENST00000438097
 
ENST00000566215
 
ENST00000604860
 
ENST00000614096
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

UBE3A-001 ENSP00000481796
ENST00000614096
Q05086
Show all »
Show » Show » 872 100.1 No 0
UBE3A-002 ENSP00000457771
ENST00000566215
Q05086
Show all »
Show » Show » 852 98 No 0
UBE3A-003 ENSP00000381045
ENST00000397954
Q05086
Show all »
Show » Show » 875 100.7 No 0
UBE3A-004 ENSP00000401265
ENST00000428984
Q05086
Show all »
Show » Show » 852 98 No 0
UBE3A-005 ENSP00000473822
ENST00000604860
Show » Show » 179 20.8 No 1
UBE3A-201 ENSP00000232165
ENST00000232165
Q05086
Show all »
Show » Show » 875 100.7 No 0
UBE3A-202 ENSP00000411258
ENST00000438097
Q05086
Show all »
Show » Show » 852 98 No 0