SLC6A6 Gene Summary [Human]
This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Details
| Type | Processed Transcript |
| Official Symbol | SLC6A6 |
| Official Name | solute carrier family 6 member 6 [Source:HGNC Symbol;Acc:HGNC:11052] |
| Ensembl ID | ENSG00000131389 |
| Bio databases IDs | |
| Aliases | solute carrier family 6 member 6, taurine transporter |
| Synonyms | C80501, HTRDC, solute carrier family 6 member 6, solute carrier family 6 (neurotransmitter transporter, taurine), member 6, Taurine Transporter, TAUT |
| 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 SLC6A6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- carboxylic acid transporter
- beta-alanine transporter
- Sodium:neurotransmitter symporter family
- taurine transporter
- taurine:sodium symporter
- sodium:amino acid transporter
- protein binding
- gamma-aminobutyrate transporter
- GABA:sodium symporter
- neutral amino acid transporter
- organic cation transporter
- binding protein
- Solute carrier families 5 and 6-like; solute binding domain
- amino acid transporter
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetes mellitus
- retinal dystrophy
- hypotaurinemic retinal degeneration and cardiomyopathy
- endometriosis
- exercise intolerance
- retinal degeneration
- major depression
- immunosuppression
- tumorigenesis
- Alzheimer disease
regulates
- reactive oxygen species
- platelet activating factor
- ATF4
- taurine
- bicarbonate
- GABA
- amino acids
- beta-alanine
role in cell
- differentiation
- expression in
- apoptosis
- production in
- quantity
- migration
- ferroptosis
- abnormal morphology
- activation-induced cell death
- diameter
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
- cellular membrane
- apical membrane
- postsynaptic membrane
- basolateral membrane
- synapse
- microvilli
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC6A6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neurotransmitter transport
- alanine transport
- nitrogen compound transport
- gamma-aminobutyric acid import
- regulation of synaptic transmission
- sodium ion transmembrane transport
- positive regulation of cell differentiation
- taurine transport
- amino acid transport
Cellular Component
Where in the cell the gene product is active
- dendrite
- microvillus membrane
- postsynaptic membrane
- membrane
- neuronal cell body
- basolateral plasma membrane
- cell projection
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- alanine transmembrane transporter activity
- L-gamma-aminobutyric acid transmembrane transporter activity
- sodium:amino acid symporter activity
- amino acid transmembrane transporter activity
- gamma-aminobutyric acid:sodium symporter activity
- taurine:sodium symporter activity
- taurine transmembrane transporter activity