ubiquitin protein ligase E3A

Summary
Gene Symbol
  • UBE3A
Organism
Homo sapiens (human)
NCBI Gene
7337
PubChem
7337
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Biological rhythms
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Host-virus interaction
  • Ligase
  • Nucleus
  • Phosphoprotein
  • Proteasome
  • Reference proteome
  • Transferase
  • Ubl conjugation pathway
  • Zinc-finger
Proteins
Displaying all 2 entries
UniProt Protein Name
Q05086
  • E6AP ubiquitin-protein ligase
  • HECT-type ubiquitin transferase E3A
  • Human papillomavirus E6-associated protein
  • Oncogenic protein-associated protein E6-AP
  • Renal carcinoma antigen NY-REN-54
Q9H2G0
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
ubiquitin ligase
Functional Category
  • K: Transcription
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying 1 entry
InterPro
Regulator of chromosome condensation, RCC1
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
DOID:0050696 fetal alcohol spectrum disorder
DOID:0060041 autism spectrum disorder
DOID:0060393 chromosome 15q11.2 deletion syndrome
DOID:1059 intellectual disability
DOID:1826 epilepsy
DOID:1932 Angelman syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024