BLOC1S3 Gene Summary [Human]
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | BLOC1S3 |
| Official Name | biogenesis of lysosomal organelles complex 1 subunit 3 [Source:HGNC Symbol;Acc:HGNC:20914] |
| Ensembl ID | ENSG00000189114 |
| Bio databases IDs | |
| Aliases | biogenesis of lysosomal organelles complex 1 subunit 3, BLOC-1 subunit 3, Biogenesis of Lysosome-related Organelles complex-1 Subunit 3, Hermansky-Pudlak syndrome 8 |
| Synonyms | biogenesis of lysosomal organelles complex 1 subunit 3, biogenesis of lysosomal organelles complex-1, subunit 3, BLOS3, E230011O18, HPS8, LOC686812, RP |
| 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 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 human 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