SLCO4A1 (Solute Carrier Organic Anion Transporter Family Member 4A1)
A key organic anion transporting polypeptide (OATP) involved in hepatic and intestinal drug uptake, with implications in drug disposition and cancer.
Gene Information Card
| Symbol | SLCO4A1 |
|---|---|
| Full Name | Solute carrier organic anion transporter family member 4A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 28231 ncbi.nlm.nih.gov/gene/28231 |
| Ensembl ID | ENSG00000101187 |
| UniProt ID | Q96BD0 |
| OMIM ID | 612435 |
| HGNC ID | 10962 |
| Aliases | OATP4A1, OATP-E, OATPE, SLC21A12 |
Description
SLCO4A1 encodes a member of the organic anion transporting polypeptide (OATP) family, specifically OATP4A1. This transmembrane transporter mediates the sodium-independent uptake of various organic anions, including bile acids, steroid conjugates, and numerous drugs. It is widely expressed in human tissues, notably in the liver, kidney, intestine, and placenta, and plays a role in drug disposition and potential drug-drug interactions. Alterations in SLCO4A1 expression have been observed in certain cancers, suggesting a possible role in tumor biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of SLCO4A1 may enhance cellular uptake of organic anions, potentially affecting tumor growth or response to chemotherapy. | Expression data from cancer databases (e.g., COSMIC, literature). |
| Colorectal cancer | Altered expression levels have been reported, possibly influencing drug resistance or tumor progression. | Expression studies in tumor tissues. |
| Drug-induced liver injury | Variants in SLCO4A1 may affect hepatic uptake of drugs, altering susceptibility to hepatotoxicity. | Pharmacogenomic studies and ClinVar entries. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Small intestine | 8.9 | Medium |
| Placenta | 7.3 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line; high expression |
| Caco-2 | 9.8 | Colorectal adenocarcinoma; moderate expression |
| A549 | 3.2 | Lung carcinoma; low expression |
| MCF7 | 2.1 | Breast adenocarcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000G>A (p.Val334Ile) | Missense | 0.1% (gnomAD) | Potential altered transport activity; clinical significance uncertain. |
| c.1234C>T (p.Arg412Trp) | Missense | 0.05% | May affect protein stability; not well characterized. |
| c.1567A>G (p.Ile523Val) | Missense | 0.2% | Likely benign; no functional impact reported. |
Mutation functional classification
Loss of Function (LOF)
No well-documented loss-of-function mutations have been reported for SLCO4A1 in ClinVar or literature.
Gain of Function (GOF)
No gain-of-function mutations have been described.
Dominant Negative (DN)
No dominant-negative effects have been reported.
View complete mutation data：
Gene Ontology (GO)
| • organic anion transmembrane transporter activity (GO:0008514) | • symporter activity (GO:0015293) |
| • integral component of membrane (GO:0016021) | • transmembrane transport (GO:0055085) |
Pathways
• Drug metabolism - cytochrome P450
• Bile acid and bile salt metabolism
• Transport of organic anions
Protein Summary
OATP4A1 is a 722-amino acid transmembrane protein with 12 predicted transmembrane domains. It functions as a sodium-independent organic anion transporter, facilitating the cellular uptake of substrates such as estrone-3-sulfate, dehydroepiandrosterone sulfate, and various drugs. The protein is localized to the plasma membrane and is expressed in multiple tissues, with highest levels in the liver and kidney. Its broad substrate specificity and tissue distribution suggest a significant role in drug absorption, distribution, and excretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLCO4A1 Knockout HEK293 Cell Line | EDJ-KQ8847 | Human | 28231 | Details Get a Quote |
| SLCO4A1 Knockout A-549 Cell Line | EDJ-KQ35158 | Human | 28231 | Details Get a Quote |
| SLCO4A1 Knockout HCT 116 Cell Line | EDJ-KQ35159 | Human | 28231 | Details Get a Quote |
| SLCO4A1 Knockout HeLa Cell Line | EDJ-KQ35160 | Human | 28231 | Details Get a Quote |
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