NAE1

Chr 16AR

NEDD8 activating enzyme E1 subunit 1

Also known as: A-116A10.1, APPBP1, HPP1, NEDFIH, ula-1

NCBI Gene: 8883 ENSG00000159593 UniProt: Q13564 OMIM: 603385

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.941 OMIM phenotype

Clinical Summary— NAE1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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