SLC9A3 Gene Summary [Human]
The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
Details
| Type | Protein Coding |
| Official Symbol | SLC9A3 |
| Official Name | solute carrier family 9 member A3 [Source:HGNC Symbol;Acc:HGNC:11073] |
| Ensembl ID | ENSG00000066230 |
| Bio databases IDs | |
| Aliases | solute carrier family 9 member A3 |
| Synonyms | 9030624O13RIK, DIAR8, NHE-3, solute carrier family 9 member A3, solute carrier family 9 (sodium/hydrogen exchanger), member 3 |
| 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 SLC9A3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Regulatory region of Na+/H+ exchanger NHE binds to calmodulin
- Sodium/hydrogen exchanger family
- Na+/H+ antiporter, bacterial form
- sodium/hydrogen exchanger 3
- Pka phosphorylation site
- protein binding
- identical protein binding
- calcineurin B binding domain
- ion channel
- phosphatidylinositol binding
- PDZ-domain binding
- sodium:hydrogen antiporter
Pathways
Biological processes and signaling networks where the SLC9A3 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
- hypotension
- end stage renal disease
- chronic kidney disease
- hyperplasia
- congenital secretory sodium diarrhea type 8
- irritable bowel syndrome characterized by constipation
- ischemic acute renal failure
- diarrhea
- hyperoxaluria
- hyperphosphatemia
role in cell
- differentiation
- morphology
- acidification
- pH
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
- membrane fraction
- cell surface
- cell borders
- intracellular space
- perinuclear region
- membrane surface
- cellular membrane
- vesicles
- cytosol
- intermicrovillar membranes
- apical membrane
- endosomal membrane
- early endosomes
- microsomal membrane
- brush border
- microvilli
- brush border membrane vesicles
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC9A3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ion transport
- regulation of intracellular pH
- potassium ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- early endosome
- brush border membrane
- extracellular vesicular exosome
- brush border
- recycling endosome membrane
- plasma membrane
- apical plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- potassium:hydrogen antiporter activity
- sodium:hydrogen antiporter activity
- PDZ domain binding
- phosphatidylinositol binding