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FLASH GENE
Symbol NAE1 contributors: mct/npt - updated : 25-01-2023
HGNC name NEDD8 activating enzyme E1 subunit 1
HGNC id 621
ASSOCIATED DISORDERS
corresponding disease(s) NAE1D
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in lipid rafts observed in the Alzheimer's disease brain
constitutional   deletion    
resulted in dysregulation of cell cycle-regulatory genes and blockade of cardiomyocyte proliferation
constitutional       loss of function
disrupts transverse tubule formation, inhibits physiological hypertrophy, and represses fetal-to-adult isoform switching, thus culminating in cardiomyocyte immaturation
constitutional   deletion    
deletion of NAE1, the subunit of only E1 enzymes, led to complete failure of myotube formation
tumoral     --over  
NAE1 and UBE2M, two critical components of the neddylation pathway, were much higher in Osteosarcoma tissues and cells than in normal osseous tissues and cells
tumoral     --over  
in colorectal cancer, the elevated expression of NAE1 correlates with cancer progression and poor prognosis
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • mice lacking Nae1 developed myocardial hypoplasia, ventricular noncompaction, and heart failure at late gestation, which led to perinatal lethality