Nup54 Gene Summary [Mouse]
Predicted to enable identical protein binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in several processes, including nuclear pore organization; protein localization to nucleus; and regulation of protein import into nucleus. Predicted to be located in nuclear envelope. Predicted to be part of nuclear pore central transport channel. Is expressed in pancreas epithelium. Human ortholog(s) of this gene implicated in dystonia 37, early-onset with striatal lesions. Orthologous to human NUP54 (nucleoporin 54). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Nup54 |
| Official Name | nucleoporin 54 [Source:MGI Symbol;Acc:MGI:1920460] |
| Ensembl ID | ENSMUSG00000034826 |
| Bio databases IDs | |
| Aliases | nucleoporin 54 |
| Synonyms | 3110079L04Rik, DYT37, nucleoporin 54 |
| Species | Mouse, Mus musculus |
| 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 mouse Nup54 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- Nucleoporin complex subunit 54
- structural constituent of nuclear pore
- protein binding
- identical protein binding
- Nup54 C-terminal interacting domain
Pathways
Biological processes and signaling networks where the Nup54 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- early-onset dystonia with striatal lesions type 37
- self-abusive behavior
role in cell
- replication in
- survival
- cell death
- dimethylation 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.
- Nucleus
- nuclear pores
- nuclear envelope
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Nup54 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein targeting
- regulation of protein import into nucleus
- nucleocytoplasmic transport
- nuclear pore organization
- NLS-bearing substrate import into nucleus
- mRNA transport
- protein targeting to nuclear inner membrane
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- nuclear membrane
- nuclear pore
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- structural constituent of nuclear pore