NAE1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NAE1 |
| Official Name | NEDD8 activating enzyme E1 subunit 1 [Source:HGNC Symbol;Acc:HGNC:621] |
| Ensembl ID | ENSG00000159593 |
| Bio databases IDs | |
| Aliases | NEDD8 activating enzyme E1 subunit 1 |
| Synonyms | A-116A10.1, APPBP1, HPP1, NEDD8 activating enzyme E1 subunit 1, NEDFIH, RGD1563180, ula-1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NAE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- RUB1 activating enzyme
- enzyme
- protein binding
- E1_enzyme_family
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- heart failure
- diabetes mellitus
- organismal death
- hypoplasia
- neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
- bleeding
- breast cancer
- Alzheimer disease
- Down syndrome
- ventricular noncompaction
role in cell
- expression in
- proliferation
- phosphorylation in
- apoptosis
- number
- mitosis
- accumulation in
- cell cycle progression
- receptor-mediated endocytosis by
- single-stranded DNA break repair
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- endosomes
- cytosol
- early endosomes
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NAE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- protein neddylation
- regulation of apoptotic process
- regulation of neuron apoptotic process
- response to DNA damage stimulus
- neuron apoptotic process
- protein ubiquitination
- mitotic cell cycle DNA replication checkpoint
- ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- macromolecular complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- ubiquitin protein ligase binding
- protein heterodimerization activity
- NEDD8 activating enzyme activity
- ubiquitin activating enzyme activity