BLOC1S1 Gene Summary [Human]
BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | BLOC1S1 |
| Official Name | biogenesis of lysosomal organelles complex 1 subunit 1 [Source:HGNC Symbol;Acc:HGNC:4200] |
| Ensembl ID | ENSG00000135441 |
| Bio databases IDs | |
| Aliases | biogenesis of lysosomal organelles complex 1 subunit 1, GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1, BLOC-1 Subunit 1, Biogenesis of Lysosome-related Organelles complex-1 Subunit 1 |
| Synonyms | biogenesis of lysosomal organelles complex 1 subunit 1, biogenesis of lysosomal organelles complex-1, subunit 1, BLOC-1 subunit 1, BLOS1, BORCS1, GCN5L1, GCN5-like protein 1, MICoA, RT14 |
| 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 BLOC1S1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- N-acetyltransferase
- GCN5-like protein 1 (GCN5L1)
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- nonalcoholic steatohepatitis
role in cell
- fragmentation in
- production in
- phosphorylation in
- expression in
- degradation in
- accumulation in
- acetylation in
- formation
- migration
- fragmentation
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
- mitochondrial matrix
- mitochondrial intermembrane space
- lysosome membrane
- early endosomes
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BLOC1S1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome localization
- platelet dense granule organization
- organelle transport along microtubule
- melanosome organization
- regulation of endosome size
- peptidyl-lysine acetylation
- anterograde axon cargo transport
- neuron projection development
- endosomal transport
- aerobic respiration
- anterograde synaptic vesicle transport
Cellular Component
Where in the cell the gene product is active
- BLOC-1 complex
- early endosome
- mitochondrial intermembrane space
- extracellular space
- mitochondrial matrix
- cytosol
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding