NAE1
entrez
8883
canonical
uniprot
Q13564
canonical
ensembl
ENSG00000159593
resolver
ensp
ENSP00000290810
resolver
ensp
ENSP00000351990
resolver
ensp
ENSP00000368776
resolver
ensp
ENSP00000377637
resolver
genesymbol
NAE1
resolver
genesymbol_syn
APPBP1
resolver
hgnc
HGNC:621
resolver
uniprot
A6NCK0
resolver
uniprot
A6NFN4
resolver
uniprot
A8MU28
resolver
uniprot
B2R700
resolver
uniprot
B3KUP9
resolver
uniprot_entry
ULA1_HUMAN
resolver
uniprot_sec
A6NCK0
resolver
uniprot_sec
A6NFN4
resolver
uniprot_sec
A8MU28
resolver
uniprot_sec
B2R700
resolver
uniprot_sec
B3KUP9
resolver
activity_regulation
ACTIVITY REGULATION: Binding of TP53BP2 to the regulatory subunit NAE1 decreases neddylation activity.
uniprot
proteins
amino_acid_sequence
MAQLGKLLKEQKYDRQLRLWGDHGQEALESAHVCLINATATGTEILKNLVLPGIGSFTIIDGNQVSGEDAGNNFFLQRSSIGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYGLVGYMRIIIKEHPVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTYKEKEDFRDLIRQGILKNENGAPEDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAKEGQGNLPVRGTIPDMIADSGKYIKLQNVYREKAKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRSLAEEYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQGRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDDYVHEFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTSATFQL
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (NEDFIH) [MIM:620210]: 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. {ECO:0000269|PubMed:36608681}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:10207026, ECO:0000269|PubMed:10722740, ECO:0000269|PubMed:12740388, ECO:0000269|PubMed:36608681}.
uniprot
proteins
mass_dalton
60246
uniprot
proteins
mutagenesis
MUTAGEN 331; /note="D->A: Impairs the formation of the NEDD8-UBA3 thioester."; /evidence="ECO:0000269|PubMed:12646924
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein neddylation.
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by TRIP12, leading to its degradation by the proteasome. {ECO:0000269|PubMed:18627766}.
uniprot
proteins
protein_family
ULA1 subfamily
uniprot
proteins
protein_family
Ubiquitin-activating E1 family
uniprot
proteins
pubmed
10207026
uniprot
proteins
pubmed
10493829
uniprot
proteins
pubmed
10722740
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12646924
uniprot
proteins
pubmed
12694406
uniprot
proteins
pubmed
12740388
uniprot
proteins
pubmed
14557245
uniprot
proteins
pubmed
14690597
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15361859
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
18627766
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
36608681
uniprot
proteins
pubmed
8626687
uniprot
proteins
sequence_length
534
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14557245}. Note=Colocalizes with APP in lipid rafts.
uniprot
proteins