SLC17A5 Gene Summary [Human]
This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SLC17A5 |
| Official Name | solute carrier family 17 member 5 [Source:HGNC Symbol;Acc:HGNC:10933] |
| Ensembl ID | ENSG00000119899 |
| Bio databases IDs | |
| Aliases | solute carrier family 17 member 5 |
| Synonyms | 4631416G20RIK, 4732491M05, AST, HP59, ISSD, Lysosomal Sialic Acid Transporter, NSD, SD, SIALIN, SIASD, SLD, solute carrier family 17 (anion/sugar transporter), member 5, solute carrier family 17 member 5, VEAT |
| 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 SLC17A5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphoglycerate transporter family protein
- dileucine internalization motif
- sugar porter
- benzoate transport
- transmembrane domain
- Major Facilitator Superfamily
- sialic acid transporter
- Na(+)-dependent inorganic phosphate cotransporter
- D-glucuronate transporter
- sialic acid permease
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infantile sialic acid storage disorder
- Salla disease
- hereditary disorder
- global developmental delay with intellectual disability
- melanoma
- melanoma cancer
- sialic acid storage disease
- cerebral hemorrhage
regulates
- sialic acids
- neuraminic acid
- nitrate
- 3-iodothyronamine
- anion
- ion
role in cell
- morphology
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- synaptic vesicle membrane
- glutaminergic synapse
- intracellular space
- cellular membrane
- lysosome
- cytosol
- lysosome membrane
- late endosomes
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC17A5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to bacterium
- ion transport
- sialic acid transport
- carbohydrate transmembrane transport
- anion transport
- D-glucuronate transport
- amino acid transport
Cellular Component
Where in the cell the gene product is active
- membrane
- cytosol
- synaptic vesicle membrane
- basolateral plasma membrane
- plasma membrane
- lysosomal membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- sialic acid transmembrane transporter activity
- D-glucuronate transmembrane transporter activity
- sugar:hydrogen symporter activity
- sialic acid:hydrogen symporter activity