| Gene Symbol | NAE1 |
|---|---|
| Entrez Gene | 8883 |
| Alt Symbol | A-116A10.1, APPBP1, HPP1, ula-1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | NEDD8 activating enzyme E1 subunit 1 |
| Other Description | APP-BP1|NEDD8-activating enzyme E1 regulatory subunit|NEDD8-activating enzyme E1 subunit|amyloid beta precursor protein binding protein 1, 59kDa|amyloid beta precursor protein-binding protein 1, 59 kDa|amyloid beta precursor protein-binding protein 1, 59kD|amyloid protein-binding protein 1|proto-oncogene protein 1|protooncogene protein 1 |
| Swissprots | B3KUP9 A6NFN4 Q13564 B2R700 A8MU28 A6NCK0 |
| Accessions | AAC23784 CCQ43241 CDM22116 EAW83042 EAW83043 Q13564 AK097680 BAG53511 AK298159 BAH12735 AK307677 AK312784 BAG35647 AL136798 CAB66732 AY197612 AAP35030 BC000480 AAH00480 BC013301 AAH13301 BC041323 BM045535 BM785899 DQ892741 ABM83667 DQ895987 ABM86913 U50939 AAC50477 XM_005256215 XP_005256272 XM_011523422 XP_011521724 XM_011523423 XP_011521725 NM_001018159 NP_001018169 NM_001018160 NP_001018170 NM_001286500 NP_001273429 NM_003905 NP_003896 |
| 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. {ECO:0000269|PubMed:10207026, ECO:0000269|PubMed:10722740, ECO:0000269|PubMed:12740388}. |
| Subcellular Location | Cell membrane {ECO:0000269|PubMed:14557245}. Note=Colocalizes with APP in lipid rafts. |
| Tissue Specificity | Ubiquitous in fetal tissues. Expressed throughout the adult brain. {ECO:0000269|PubMed:8626687}. |
| Top Pathways | Alzheimer's disease |