NAE1
Chr 16ARNEDD8 activating enzyme E1 subunit 1
Also known as: A-116A10.1, APPBP1, HPP1, NEDFIH, ula-1
The NAE1 protein serves as the regulatory subunit of the UBA3-NAE1 E1 enzyme that activates NEDD8, a ubiquitin-like protein essential for cell cycle progression and neddylation processes involved in cell growth and development. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia. This gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NAE1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools