SLC51A: Solute Carrier Family 51 Subunit Alpha
Key transporter in bile acid and sterol homeostasis
Gene Information Card
| Symbol | SLC51A |
|---|---|
| Full Name | Solute Carrier Family 51 Subunit Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 200931 ncbi.nlm.nih.gov/gene/200931 |
| Ensembl ID | ENSG00000163902 |
| UniProt ID | Q86UW1 |
| OMIM ID | 612084 |
| HGNC ID | 29995 |
| Aliases | OSTalpha, OST-alpha, SLC51A1 |
Description
SLC51A encodes the alpha subunit of the organic solute transporter (OST), a heterodimeric transporter that mediates the efflux of bile acids and sterols from enterocytes and hepatocytes. It is critical for enterohepatic circulation and cholesterol homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Bile Acid Malabsorption | Impaired bile acid reabsorption due to OST dysfunction | PMID: 25683116 |
| Cholestasis | Reduced bile acid export leads to intrahepatic accumulation | PMID: 26045117 |
| Hypercholanemia | Elevated serum bile acids from defective transport | PMID: 26045117 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small Intestine | 12.5 | High |
| Liver | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Colon | 5.4 | Medium |
| Gallbladder | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte line |
| Caco-2 | 14.8 | Intestinal epithelial line |
| HEK293 | 3.5 | Embryonic kidney line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely null |
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.764G>A (p.Arg255Gln) | Missense | <0.01% | Reduced transport activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants cause truncated or absent protein, impairing bile acid transport.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • bile acid transmembrane transporter activity | • sterol transporter activity |
| • plasma membrane | • integral component of membrane |
| • bile acid transport | • sterol transport |
Pathways
• Bile acid and bile salt metabolism
• Transport of organic anions
Protein Summary
SLC51A (OSTalpha) is a 340-amino acid transmembrane protein that forms a functional heterodimer with SLC51B (OSTbeta). The complex localizes to the basolateral membrane of enterocytes and hepatocytes, exporting bile acids and sterols into the portal circulation. It is essential for maintaining bile acid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC51A Knockout HEK293 Cell Line | EDJ-KQ4632 | Human | 200931 | Details Get a Quote |
| SLC51A Knockout A-549 Cell Line | EDJ-KQ27313 | Human | 200931 | Details Get a Quote |
| SLC51A Knockout HCT 116 Cell Line | EDJ-KQ27314 | Human | 200931 | Details Get a Quote |
| SLC51A Knockout HeLa Cell Line | EDJ-KQ27315 | Human | 200931 | Details Get a Quote |
| SLC51A Knockout Huh-7 Cell Line | EDC08333 | Human | 200931 | Details Get a Quote |
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