BLOC1S4 Gene Summary [Human]
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | BLOC1S4 |
| Official Name | biogenesis of lysosomal organelles complex 1 subunit 4 [Source:HGNC Symbol;Acc:HGNC:24206] |
| Ensembl ID | ENSG00000186222 |
| Bio databases IDs | |
| Aliases | biogenesis of lysosomal organelles complex 1 subunit 4 |
| Synonyms | 2610101N07Rik, BCAS4L, biogenesis of lysosomal organelles complex 1 subunit 4, biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino, BLOS4, CAPPUCCINO, CNO, RGD1306037 |
| 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 BLOC1S4 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
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.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BLOC1S4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- melanosome organization
- anterograde axon cargo transport
- neuron projection development
- platelet aggregation
- neuromuscular process controlling balance
- anterograde synaptic vesicle transport
Cellular Component
Where in the cell the gene product is active
- BLOC-1 complex
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding