nucleoporin 54

Summary
Gene Symbol
  • NUP54
Organism
Homo sapiens (human)
NCBI Gene
53371
PubChem
53371
Alliance of Genome Resources
JoGo
NUP54
TogoVar
NUP54
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Dystonia
  • Glycoprotein
  • Membrane
  • Nuclear pore complex
  • Proteomics identification
  • Reference proteome
  • Repeat
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A8Q3WLP2
Q7Z3B4
  • 54 kDa nucleoporin
A0A8Q3SHX2
Gene Ontology (GO)
GO Hierarchy
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0060956 dystonia 37, early-onset with striatal lesions

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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: April 6, 2026