NBEAL1 Gene Summary [Human]
Predicted to enable protein kinase binding activity. Predicted to be involved in protein localization. Predicted to be active in cytosol and membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | NBEAL1 |
| Official Name | neurobeachin like 1 [Source:HGNC Symbol;Acc:HGNC:20681] |
| Ensembl ID | ENSG00000144426 |
| Bio databases IDs | |
| Aliases | neurobeachin like 1 |
| Synonyms | 2310076G13Rik, A530050O19Rik, A530083I02RIK, ALS2CR16, ALS2CR17, LOC689240, Nbeal1-ps1, neurobeachin-like 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 NBEAL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- WD40 repeats
- Domain of unknown function (DUF4800)
- Neurobeachin beta propeller domain
- WD domain, G-beta repeat
- WD40
- Pleckstrin homology-like domain
- Beach
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- coronary artery disease
- neuroticism
- small vessel disease stroke
- headache
- Alzheimer disease
- myocardial infarction
- nonlobar intracerebral hemorrhage
- hypertension
- respiratory disorder
- white matter hyperintensities
regulated by
- 5-hydroxytryptamine
role in cell
- expression in
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
- Golgi Apparatus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NBEAL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization
Cellular Component
Where in the cell the gene product is active
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein kinase binding