Mouse anti-Human/Rat sapiens (Human) NAE1 Monoclonal Antibody

Function

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

Subcellular Location

Cell membrane

Disease Association

Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (NEDFIH) : An autosomal recessive disorder characterized by moderate to severe global developmental delay, facial dysmorphism, and ischiopubic synchondrosis hypoplasia. Affected individuals show infection-triggered lymphopenia, and loss of developmental milestones associated with epileptic spasms. Diminished white matter volume, enlarged ventricles, and thin corpus callosum are visible on brain imaging. [The disease may be caused by variants affecting the gene represented in this entry]

Tissue Specificity

Ubiquitous in fetal tissues. Expressed throughout the adult brain

Subunit

Heterodimer of UBA3 and NAE1. The complex binds NEDD8 and UBE2M. Binds APP and TP53BP2

Pathway

Protein modification; protein neddylation

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