Reps1 Gene Summary [Mouse]
Predicted to enable SH3 domain binding activity. Predicted to be involved in endocytosis and endosomal transport. Predicted to be located in clathrin-coated pit; cytosol; and nucleoplasm. Predicted to be active in cytoplasm and plasma membrane. Is expressed in cranium; lung; nervous system; otic capsule; and thymus primordium. Human ortholog(s) of this gene implicated in neurodegeneration with brain iron accumulation. Orthologous to human REPS1 (RALBP1 associated Eps domain containing 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Reps1 |
| Official Name | RalBP1 associated Eps domain containing protein [Source:MGI Symbol;Acc:MGI:1196373] |
| Ensembl ID | ENSMUSG00000019854 |
| Bio databases IDs | |
| Aliases | RalBP1 associated Eps domain containing protein |
| Synonyms | AB039973, LOC100909392, NBIA7, RALBP1, RALBP1 associated Eps domain containing 1, RalBP1 associated Eps domain containing protein |
| 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 Reps1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EF-hand domain pair
- EFh
- Proline-rich protein
- protein binding
- Eps15 homology domain
- Cytoskeletal-regulatory complex EF hand
- SH3-domain binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- intracellular membrane-bounded organelle
- cytosol
- nucleoplasm
- clathrin-coated pits
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Reps1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endosomal transport
- endocytosis
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- intracellular membrane-bounded organelle
- coated pit
- cytosol
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- SH3 domain binding