BLOC1S6 Gene Summary [Human]
The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
Details
| Type | Processed Transcript |
| Official Symbol | BLOC1S6 |
| Official Name | biogenesis of lysosomal organelles complex 1 subunit 6 [Source:HGNC Symbol;Acc:HGNC:8549] |
| Ensembl ID | ENSG00000104164 |
| Bio databases IDs | |
| Aliases | biogenesis of lysosomal organelles complex 1 subunit 6, BLOC-1 subunit pallidin |
| Synonyms | biogenesis of lysosomal organelles complex 1 subunit 6, biogenesis of lysosomal organelles complex-1, subunit 6, pallidin, BLOC-1, BLOS6, HPS9, PA, PALLID, Pallidin, PLDN, Stx13bp1 |
| 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 BLOC1S6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin filament binding
- protein homodimerization
- Snapin/Pallidin
- protein binding
- identical protein binding
- syntaxin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Hermansky-Pudlak syndrome
- hermansky-pudlak syndrome type 9
role in cell
- activation
- assembly
- differentiation
- fusion
- signaling in
- binding in
- morphogenesis
- docking
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
- ruffle
- organelle
- microvesicles
- cellular membrane
- focal adhesions
- Nucleus
- endosomes
- contractile rings
- actin filaments
- intercellular junctions
- cytosol
- endosomal compartment
- synaptosomes
- transport vesicles
- actin stress fibers
- microsomal membrane
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BLOC1S6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- anterograde axon cargo transport
- nitric oxide homeostasis
- glutamine metabolic process
- hypothalamus development
- vasodilation
- blood coagulation
- response to xenobiotic stimulus
- phospholipid metabolic process
- memory
- endothelium development
- lung alveolus development
- glutamate metabolic process
- adenosine metabolic process
- kidney development
- secretion of lysosomal enzymes
- melanosome transport
- protein transmembrane transport
- circadian sleep/wake cycle
- membrane fusion
- cilium morphogenesis
- neuron projection development
- lipid homeostasis
- intracellular transport
- dentate gyrus development
- respiratory system process
- protein targeting
- synaptic vesicle docking involved in exocytosis
- melanosome organization
- melanocyte differentiation
- positive regulation of natural killer cell activation
- homeostasis of number of cells
- cellular response to epidermal growth factor stimulus
- ATP metabolic process
- endosome to melanosome transport
- gene expression
- response to activity
- positive regulation of pigment cell differentiation
- anterograde synaptic vesicle transport
- actin filament bundle assembly
Cellular Component
Where in the cell the gene product is active
- contractile ring
- BLOC-1 complex
- membrane-bounded organelle
- cell-cell contact zone
- endosome
- focal adhesion
- cytoplasm
- stress fiber
- ruffle
- cytosol
- SNARE complex
- transport vesicle
- filamentous actin
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- identical protein binding
- protein homodimerization activity
- protein binding
- syntaxin binding
- binding, bridging