SLC9A6 Gene Summary [Human]
This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Details
| Type | Protein Coding |
| Official Symbol | SLC9A6 |
| Official Name | solute carrier family 9 member A6 [Source:HGNC Symbol;Acc:HGNC:11079] |
| Ensembl ID | ENSG00000198689 |
| Bio databases IDs | |
| Aliases | solute carrier family 9 member A6 |
| Synonyms | 3732426M05, 6430520C02Rik, mKIAA0267, MRSA, MRXSCH, NHE-6, RGD1563582, Slc9a6 predicted, solute carrier family 9 member A6, solute carrier family 9 (sodium/hydrogen exchanger), member 6 |
| 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 SLC9A6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sodium/hydrogen exchanger family
- cytoplasmic domain
- Na+/H+ antiporter, bacterial form
- potassium:hydrogen antiporter
- sodium/hydrogen exchanger 3
- protein binding
- cytosolic tail domain
- identical protein binding
- transporter
- sodium:hydrogen antiporter
Pathways
Biological processes and signaling networks where the SLC9A6 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- X linked mental retardation syndromic christianson type
- Alzheimer disease
- hereditary disorder
- mental retardation
- alkalinization
- productive infection by HIV-1
role in cell
- apoptosis
- production in
- phosphorylation in
- quantity
- acidification
- activation
- morphogenesis
- extension
- arborization
- organization
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
- glutaminergic synapse
- intracellular membrane-bounded organelle
- presynaptic regions
- cell surface
- endosomes
- Golgi Apparatus
- endoplasmic reticulum membrane
- mitochondrial membrane
- endosomal membrane
- synaptic vesicles
- neurites
- synapse
- recycling endosomes
- early endosomes
- late endosomes
- cytoplasmic vesicles
- microsomal membrane
- axons
- dendrites
- axon terminals
- sorting endosomes
- perinuclear recycling endosome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC9A6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of intracellular pH
- ion transport
- potassium ion transmembrane transport
- axon extension
- neuron projection morphogenesis
- establishment of cell polarity
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- early endosome membrane
- late endosome membrane
- intracellular membrane-bounded organelle
- mitochondrion
- recycling endosome
- recycling endosome membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- potassium:hydrogen antiporter activity
- sodium:hydrogen antiporter activity