SLC9D1 (Solute Carrier Family 9 Member D1) - Gene Overview
A comprehensive biomedical reference for SLC9D1, including genomic data, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | SLC9D1 |
|---|---|
| Full Name | Solute carrier family 9 member D1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 285335 ncbi.nlm.nih.gov/gene/285335 |
| Ensembl ID | ENSG00000188690 |
| UniProt ID | Q5T2R2 |
| OMIM ID | 616751 |
| HGNC ID | 27373 |
| Aliases | FLJ46365, NHE10 (putative) |
Description
SLC9D1 encodes a member of the solute carrier family 9 (SLC9) of Na+/H+ exchangers. The protein is predicted to be a transmembrane transporter involved in ion homeostasis, though its exact physiological role is not fully characterized. It is expressed in various tissues, with notable levels in the kidney and testis. Mutations in SLC9D1 have been associated with a rare autosomal recessive disorder characterized by congenital diarrhea and immune dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital diarrhea with immune dysfunction | Loss-of-function mutations impair Na+/H+ exchange activity, leading to altered intestinal ion transport and immune cell function. | ClinVar (pathogenic variants), OMIM (616751) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 8.3 | Low |
| Small intestine | 6.1 | Low |
| Lung | 3.2 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Moderate expression in RNA-seq |
| Caco-2 | 8.0 | Intestinal epithelial cell line |
| HepG2 | 2.0 | Low expression |
| A549 | 1.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Ter) | Nonsense | Rare (found in one family) | Loss of function, premature truncation |
| c.245G>A (p.Trp82Ter) | Nonsense | Rare (found in one family) | Loss of function, premature truncation |
| c.389T>C (p.Leu130Pro) | Missense | Rare (found in one family) | Likely loss of function, altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that abolish Na+/H+ exchange activity, leading to disease.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • solute:proton antiporter activity (GO:0015299) | • plasma membrane (GO:0005886) |
| • sodium ion transport (GO:0006814) | • integral component of membrane (GO:0016021) |
Pathways
• Ion transport by P-type ATPases (Reactome)
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome)
Protein Summary
SLC9D1 is a predicted Na+/H+ exchanger with 11 transmembrane domains. It is localized to the plasma membrane and involved in sodium/proton exchange across cellular membranes. The protein is expressed in kidney and testis, suggesting roles in renal ion handling and spermatogenesis. Structural studies indicate a conserved ion transport domain, but functional characterization remains incomplete.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC9D1 Knockout HEK293 Cell Line | EDJ-KQ11906 | Human | 55002 | Details Get a Quote |
| SLC9D1 Knockout A-549 Cell Line | EDJ-KQ40377 | Human | 55002 | Details Get a Quote |
| SLC9D1 Knockout HCT 116 Cell Line | EDJ-KQ40378 | Human | 55002 | Details Get a Quote |
| SLC9D1 Knockout HeLa Cell Line | EDJ-KQ40379 | Human | 55002 | Details Get a Quote |
