SLC10A6 (Solute Carrier Family 10 Member 6) - Sodium-Dependent Bile Acid Transporter
A key membrane transporter involved in bile acid and steroid sulfate homeostasis, with implications in metabolic and endocrine disorders.
Gene Information Card
| Symbol | SLC10A6 |
|---|---|
| Full Name | Solute carrier family 10 member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.1 |
| NCBI Gene ID | 345274 ncbi.nlm.nih.gov/gene/345274 |
| Ensembl ID | ENSG00000145284 |
| UniProt ID | Q3KNW5 |
| OMIM ID | 611458 |
| HGNC ID | 22906 |
| Aliases | SOAT, solute carrier family 10 (sodium/bile acid cotransporter family), member 6 |
Description
SLC10A6 encodes a sodium-dependent bile acid transporter that also mediates the transport of steroid sulfates, such as dehydroepiandrosterone sulfate (DHEAS) and estrone sulfate. It is expressed in various tissues, including the adrenal gland, testis, and placenta, and plays a role in bile acid and steroid hormone metabolism. The protein is a member of the SLC10 family of transporters, characterized by multiple transmembrane domains. SLC10A6 has been implicated in the regulation of steroid hormone signaling and may be involved in the pathophysiology of certain endocrine and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Prostate cancer | SLC10A6 expression may influence androgen signaling by transporting DHEAS, a precursor for androgen synthesis, potentially affecting tumor progression. | Expression studies in prostate cancer cell lines and tissues (PMID: 21900203). |
| Breast cancer | Transport of estrogen sulfates (e.g., estrone sulfate) by SLC10A6 may contribute to estrogen-dependent tumor growth. | Expression in breast cancer cell lines and correlation with hormone receptor status (PMID: 21900203). |
| Adrenal disorders | Altered SLC10A6 function could affect adrenal steroid sulfate transport, impacting adrenal hormone production and metabolism. | Expression in adrenal gland and functional studies (UniProt). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Adrenal gland | 12.5 | Medium |
| Testis | 8.2 | Low |
| Placenta | 6.1 | Low |
| Liver | 3.4 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HepG2 | 5.2 | Hepatocellular carcinoma cell line; moderate expression. |
| MCF7 | 7.8 | Breast cancer cell line; expression may be hormone-responsive. |
| LNCaP | 6.5 | Prostate cancer cell line; androgen-responsive. |
| A549 | 2.1 | Lung carcinoma cell line; low expression. |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| rs11569679 (c.511A>G, p.Ile171Val) | SNV | Minor allele frequency ~0.05 (1000 Genomes) | Missense variant; functional impact not fully characterized, may affect transport activity. |
| rs61742512 (c.1003G>A, p.Ala335Thr) | SNV | Minor allele frequency ~0.02 (ExAC) | Missense variant; predicted benign by in silico tools, but functional studies lacking. |
| c.124C>T (p.Arg42*) | Nonsense | Rare (not observed in large population databases) | Premature stop codon; likely loss-of-function, but no clinical association reported. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SLC10A6 are rare and not well-documented. A nonsense variant (p.Arg42*) would likely result in a truncated non-functional protein, but no clinical phenotype has been associated. Reduced transport activity due to missense variants may affect steroid sulfate uptake, but evidence is limited.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLC10A6. Overexpression in certain cancers may lead to increased steroid sulfate uptake, but this is not due to mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for SLC10A6. As a transporter, dominant-negative effects are unlikely unless the protein forms oligomers, which has not been established.
View complete mutation data:
Gene Ontology (GO)
| • bile acid:sodium symporter activity (GO:0008508) | • symporter activity (GO:0015293) |
| • integral component of plasma membrane (GO:0005887) | • integral component of membrane (GO:0016021) |
| • cholesterol metabolic process (GO:0008203) | • bile acid and bile salt transport (GO:0015721) |
Pathways
• Bile acid and bile salt metabolism
• Transport of organic anions
• Steroid hormone biosynthesis (via DHEAS transport)
Protein Summary
SLC10A6 is a 377-amino acid transmembrane protein with 7-10 predicted transmembrane domains. It functions as a sodium-dependent transporter for bile acids and steroid sulfates, coupling sodium influx to substrate uptake. The protein is localized to the plasma membrane and is expressed in tissues involved in steroid metabolism, such as adrenal gland and testis. Its transport activity is pH-dependent and substrate-specific, with a preference for sulfated steroids. SLC10A6 may play a role in the cellular uptake of DHEAS, providing precursors for local androgen and estrogen synthesis in peripheral tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC10A6 Knockout HEK293 Cell Line | EDJ-KQ15292 | Human | 345274 | Details Get a Quote |
| SLC10A6 Knockout HeLa Cell Line | EDJ-KQ59787 | Human | 345274 | Details Get a Quote |
| SLC10A6 Knockout A-549 Cell Line | EDJ-KQ68255 | Human | 345274 | Details Get a Quote |
| SLC10A6 Knockout HCT 116 Cell Line | EDJ-KQ76630 | Human | 345274 | Details Get a Quote |