Bloc1s5 Gene Summary [Mouse]
Involved in anterograde synaptic vesicle transport. Acts upstream of or within developmental pigmentation; otolith morphogenesis; and vesicle-mediated transport. Part of BLOC-1 complex. Is active in microvesicle. Used to study Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 1; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome. Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Bloc1s5 |
| Official Name | biogenesis of lysosomal organelles complex-1, subunit 5, muted [Source:MGI Symbol;Acc:MGI:2178598] |
| Ensembl ID | ENSMUSG00000038982 |
| Bio databases IDs | |
| Aliases | biogenesis of lysosomal organelles complex-1, subunit 5, muted |
| Synonyms | 1810074A19Rik, biogenesis of lysosomal organelles complex 1 subunit 5, biogenesis of lysosomal organelles complex-1, subunit 5, muted, BLOS5, HPS11, MU, MUTED |
| 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 Bloc1s5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Organelle biogenesis, Muted-like protein
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.
- Extracellular Space
- microvesicles
- transport vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bloc1s5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- melanosome organization
- vesicle-mediated transport
- anterograde axon cargo transport
- neuron projection development
- endosome to melanosome transport
- otolith morphogenesis
- positive regulation of pigment cell differentiation
- anterograde synaptic vesicle transport
- melanosome transport
Cellular Component
Where in the cell the gene product is active
- BLOC-1 complex
- transport vesicle
Molecular Function
What the gene product does at the molecular level
- protein binding