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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NAE1
NEDD8 activating enzyme E1 subunit 1
Chromosome 16 Β· 16q22.1
NCBI Gene: 8883Ensembl: ENSG00000159593.16HGNC: HGNC:621UniProt: Q13564
95PubMed Papers
21Diseases
1Drugs
3Pathogenic Variants
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
NEDD8 activating enzyme activityprotein bindingubiquitin protein ligase bindingprotein heterodimerization activityneurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasianeurodegenerative diseaseacute myeloid leukemiamyelodysplastic syndrome
✦AI Summary

NAE1 (NEDD8 activating enzyme E1 subunit 1) is the regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme complex that catalyzes protein neddylation, a critical post-translational modification 1. NAE1 activates NEDD8 through adenylation and thioester bond formation, subsequently transferring NEDD8 to E2 enzymes like UBE2M for conjugation to target proteins [UniProt data]. This modification regulates cell cycle progression, cell growth, and apoptosis [UniProt data]. NAE1 has emerged as a significant therapeutic target across multiple diseases. In cardiac hypertrophy, K238 crotonylation of NAE1 promotes gelsolin neddylation, enhancing cytoskeletal remodeling and pathological hypertrophy progression 1. Genome-wide association studies identify NAE1 as a putatively causal gene and potential intervention target for heart failure prevention 2. In cholangiocarcinoma, NAE1-mediated hyper-neddylation promotes tumor cell proliferation and survival; pevonedistat (NAE1 inhibitor) halts tumorigenesis in multiple in vivo models 3. NAE1 inhibition also prevents acetaminophen-induced liver injury by modulating cardiolipin metabolism 4 and attenuates lupus progression by promoting double-negative T cell apoptosis through Bim stabilization 5. In immunotherapy contexts, NAE1-mediated neddylation serves as a proteomic checkpoint for CD8+ T cell activation and antitumor function 6, while NAE1 expression predicts clinical outcomes and immune infiltration in hepatocellular carcinoma 7.

Sources cited
1
K238 crotonylation of NAE1 promotes gelsolin neddylation and enhances cardiac hypertrophy through cytoskeletal remodeling
PMID: 39229723
2
NAE1 identified as putatively causal gene for heart failure through genome-wide association and Mendelian randomization proteomics
PMID: 37429843
3
NAE1-mediated hyper-neddylation promotes cholangiocarcinoma cell proliferation and survival; pevonedistat inhibition halts tumorigenesis
PMID: 35217064
4
NAE1 inhibition with MLN4924 prevents acetaminophen-induced liver injury by enhancing cardiolipin pathway
PMID: 39019009
5
NAE1 inhibition attenuates lupus by promoting Bim-mediated double-negative T cell apoptosis
PMID: 38221551
6
NAE1-mediated neddylation serves as essential proteomic checkpoint for CD8+ T cell activation and antitumor function
PMID: 40030035
7
NAE1 expression is independent prognostic factor for hepatocellular carcinoma outcomes and correlates with immune infiltration
PMID: 40300298
8
NAE1 mediates CRL4 neddylation during mitosis to suppress autophagy via WIPI2 degradation
PMID: 30898011
Disease Associationsβ“˜21
neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasiaOpen Targets
0.58Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
acute myeloid leukemiaOpen Targets
0.30Weak
myelodysplastic syndromeOpen Targets
0.29Weak
neoplasmOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
triple-negative breast cancerOpen Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
MODYOpen Targets
0.04Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
response to xenobiotic stimulusOpen Targets
0.04Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.04Suggestive
familial pseudohyperkalemiaOpen Targets
0.04Suggestive
Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasiaUniProt
Pathogenic Variants3
NM_003905.4(NAE1):c.1289G>A (p.Arg430Gln)Pathogenic
Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
β˜†β˜†β˜†β˜†2023β†’ Residue 430
NM_003905.4(NAE1):c.147G>C (p.Leu49Phe)Pathogenic
Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
β˜†β˜†β˜†β˜†2023β†’ Residue 49
NM_003905.4(NAE1):c.882C>G (p.Cys294Trp)Pathogenic
Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
β˜†β˜†β˜†β˜†β†’ Residue 294
View on ClinVar β†—
Drug Targets1
PEVONEDISTATPhase III
NEDD8 activating enzyme inhibitor
myelodysplastic syndrome
Related Genes
UBA1Protein interaction100%UCHL3Protein interaction100%CUL3Protein interaction100%SKP1Protein interaction100%CUL4AProtein interaction100%CUL2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
63%
Heart
59%
Ovary
58%
Liver
35%
Lung
33%
Gene Interaction Network
Click a node to explore
NAE1UBA1UCHL3CUL3SKP1CUL4ACUL2
PROTEIN STRUCTURE
Preparing viewer…
PDB1TT5 Β· 2.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.49–0.85]
RankingsWhere NAE1 stands among ~20K protein-coding genes
  • #5,044of 20,598
    Most Researched95 Β· top quartile
  • #3,993of 5,498
    Most Pathogenic Variants3
  • #7,319of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedNAE1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Crotonylation of NAE1 Modulates Cardiac Hypertrophy via Gelsolin Neddylation.
PMID: 39229723
Circ Res Β· 2024
1.00
2
Genome-wide association analysis and Mendelian randomization proteomics identify drug targets for heart failure.
PMID: 37429843
Nat Commun Β· 2023
0.90
3
Targeting NAE1-mediated protein hyper-NEDDylation halts cholangiocarcinogenesis and impacts on tumor-stroma crosstalk in experimental models.
PMID: 35217064
J Hepatol Β· 2022
0.80
4
Suppression of autophagy during mitosis via CUL4-RING ubiquitin ligases-mediated WIPI2 polyubiquitination and proteasomal degradation.
PMID: 30898011
Autophagy Β· 2019
0.70
5
Neddylation inhibition prevents acetaminophen-induced liver damage by enhancing the anabolic cardiolipin pathway.
PMID: 39019009
Cell Rep Med Β· 2024
0.60