AlphaFold predicted structure
NAE1 · Q13564
Mean pLDDT
96.3/ 100
Very high
534 residues
Confidence breakdown
- Very high(≥ 90)94%
- Confident(70–90)6%
- Low(50–70)1%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
NAE1
Chr 16q22.1NEDD8 activating enzyme E1 subunit 1
- Aliases:
- ula-1, APP-BP1
- MANE:
- ENST00000290810.8
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Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
0.58neurodegenerative disease
0.53acute myeloid leukemia
0.35myelodysplastic syndrome
0.35chronic myelomonocytic leukemia
0.29non-small cell lung carcinoma
0.10nasopharyngeal carcinoma
0.08breast carcinoma
0.08breast cancer
0.08intrahepatic cholangiocarcinoma
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
NEDD8-activating enzyme E1 regulatory subunit
Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8 conjugation. The covalent attachment of NEDD8 to target proteins is known as 'neddylation' and the process is involved in the regulation of cell growth, viability and development