LYST Gene Summary [Human]
This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
Details
| Type | Protein Coding |
| Official Symbol | LYST |
| Official Name | lysosomal trafficking regulator [Source:HGNC Symbol;Acc:HGNC:1968] |
| Ensembl ID | ENSG00000143669 |
| Bio databases IDs | |
| Aliases | lysosomal trafficking regulator |
| Synonyms | Beige, bg, CHS, CHS1, D13Sfk13, Lysosomal trafficking regulator, LYST-IT1, Mauve |
| 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 LYST often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- WD40 repeats
- WD domain, G-beta repeat
- WD40
- protein binding
- Pleckstrin homology-like domain
- transporter
- Beach
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- Chédiak-Steinbrinck-Higashi syndrome
- hereditary cancer-predisposing syndrome
- hereditary disorder
- adult type Chediak-Higashi syndrome
- epithelial neoplasia
- systemic lupus erythematosus
- multiple sclerosis
- hereditary spastic ataxia
- epithelial cancer
role in cell
- phosphorylation in
- activation in
- quantity
- disruption
- activation
- organization
- morphology
- chemotaxis by
- recruitment in
- trafficking in
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
- microtubule cytoskeleton
- microtubules
- cytosol
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LYST gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mast cell secretory granule organization
- protein transport
- protein localization
- natural killer cell mediated cytotoxicity
- defense response to bacterium
- defense response to protozoan
- melanosome organization
- pigmentation
- phagocytosis
- endosome to lysosome transport via multivesicular body sorting pathway
- defense response to virus
- leukocyte chemotaxis
Cellular Component
Where in the cell the gene product is active
- microtubule cytoskeleton
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding