gene 1,060 words KG: UBE3A
kind:genesection:entitiesstate:publishedtopic:neurodevelopmental-epilepsy
Contents

UBE3A

🧬 Gene Info
Gene SymbolUBE3A
Full NameUbiquitin Protein Ligase E3A
Chromosome15q11.2
Primary ExpressionBrain (neurons), widespread peripheral tissue
Subcellular Localization**HECT domain** — the catalytic domain (~350 aa) that transfers ubiquitin to substrates
Molecular Weight100 kDa
Amino Acids865 aa
PathwaysEr Stress, Innate Immunity, Mitophagy
UniProt IDQ05086
NCBI Gene ID7332
Ensembl IDENSG00000114062
OMIM601623
GeneCardsUBE3A
Human Protein AtlasUBE3A
Genomic Coordinateschr15:25,310,000-25,420,000 (GRCh38)
Associated Diseasesneurodegeneration
KG Connections29 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph

Related Hypotheses (2)

Conditional CRISPR Kill Switches for Aberrant Protein Cleara
Score: 0.45
GFAP-Positive Reactive Astrocyte Subtype Delineation
Score: 0.52

Related Analyses (14)

SEA-AD Gene Expression Profiling — Allen Brain Cell Atlas
neurodegeneration · completed
Selective vulnerability of entorhinal cortex layer II neuron
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · completed
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · archived
Mitochondrial transfer between neurons and glia
neurodegeneration · archived

Related Experiments (5)

Anti-Tau Antibody vs ASO/Gene Therapy — Comparative Efficacy
validation · proposed · Score: 0.40
CRISPR Gene Correction Approaches for CBS/PSP
clinical · proposed · Score: 0.40
Epigenetic Dysregulation Validation in Parkinson's Disease
clinical · proposed · Score: 0.40
AAV-LRRK2 Gene Therapy IND-Enabling Study Design
clinical · proposed · Score: 0.40
Spinocerebellar Ataxia (SCA) Disease-Modifying Therapy Devel
validation · proposed · Score: 0.40

See Also (15)

Ubiquitin
protein · KG edge: regulates
Mitophagy Receptor Pathway in Neurodegeneration
mechanism · KG edge: regulates
MAPK Signaling Pathways in Neurodegeneration
mechanism · KG edge: contributes_to
ER Stress and Unfolded Protein Response in Corticobasal
mechanism · KG edge: regulates
PARKIN Gene
gene · KG edge: regulates

Knowledge Graph (12 edges)

UBE3A contributes_to CREB3
UBE3A regulates PARKIN
UBE3A regulates UBIQUITIN
UBE3A regulates PARK6
UBE3A contributes_to MAPK8
UBE3A contributes_to NFKBIA
UBE3A regulates GFAP
UBE3A regulates PINK1
UBE3A regulates VCP
UBE3A regulates ALPHA-SYNUCLEIN