SLC9A9 Gene Summary [Human]
This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]
Details
| Type | Protein Coding |
| Official Symbol | SLC9A9 |
| Official Name | solute carrier family 9 member A9 [Source:HGNC Symbol;Acc:HGNC:20653] |
| Ensembl ID | ENSG00000181804 |
| Bio databases IDs | |
| Aliases | solute carrier family 9 member A9 |
| Synonyms | 5730527A11RIK, 9930105B05, AI854429, AUTS16, NHE-9, RGD1560736, solute carrier family 9 member A9, solute carrier family 9 (sodium/hydrogen exchanger), member 9 |
| 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 SLC9A9 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
- Na+/H+ antiporter, bacterial form
- potassium:hydrogen antiporter
- sodium/hydrogen exchanger 3
- protein binding
- transporter
- sodium:hydrogen antiporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute myeloid leukemia
- rheumatoid arthritis
- non-insulin-dependent diabetes mellitus
- sarcoidosis
- coronary artery disease
- early missed abortion
- colorectal cancer
- pervasive developmental disorder
- myocardial infarction
- nonalcoholic fatty liver disease
role in cell
- expression in
- function
- excitatory postsynaptic potential
- maturation
- pH
- transmission
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
- cell periphery
- cellular membrane
- Plasma Membrane
- endosomal membrane
- recycling endosomes
- early endosomes
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC9A9 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
- phagosome maturation
- defense response to bacterium
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- late endosome membrane
- early phagosome
- early endosome
- phagocytic vesicle membrane
- recycling endosome
- recycling endosome membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- potassium:hydrogen antiporter activity
- sodium:hydrogen antiporter activity