Bloc1s3 Gene Summary [Mouse]
Enables protein transmembrane transporter activity. Involved in anterograde synaptic vesicle transport. Acts upstream of or within several processes, including positive regulation of natural killer cell activation; secretion of lysosomal enzymes; and vesicle organization. Located in cytosol. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome 8. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 8. Orthologous to human BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Bloc1s3 |
| Official Name | biogenesis of lysosomal organelles complex-1, subunit 3 [Source:MGI Symbol;Acc:MGI:2678952] |
| Ensembl ID | ENSMUSG00000057667 |
| Bio databases IDs | |
| Aliases | biogenesis of lysosomal organelles complex-1, subunit 3 |
| Synonyms | biogenesis of lysosomal organelles complex 1 subunit 3, biogenesis of lysosomal organelles complex-1, subunit 3, BLOS3, E230011O18, HPS8, LOC686812, RP |
| 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 Bloc1s3 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 carrier
- Biogenesis of lysosome-related organelles complex 1 subunit 3
- protein binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gastroesophageal reflux
- Alzheimer disease
- cutaneous melanoma
- cutaneous melanoma cancer
- hermansky-pudlak syndrome type 8
- peptic ulcer disease
- Hermansky-Pudlak syndrome
- hyperopia
regulates
- lysosomal enzyme
role in cell
- formation
- activation
- organization
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
- cytosol
- transport vesicles
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bloc1s3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein transmembrane transport
- platelet dense granule organization
- anterograde axon cargo transport
- neuron projection development
- response to xenobiotic stimulus
- melanosome organization
- eye development
- pigmentation
- positive regulation of natural killer cell activation
- endosome to melanosome transport
- secretion of lysosomal enzymes
- platelet activation
- anterograde synaptic vesicle transport
- melanosome transport
Cellular Component
Where in the cell the gene product is active
- BLOC-1 complex
- cytosol
- transport vesicle
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein transmembrane transporter activity