SLCO4C1
Solute Carrier Organic Anion Transporter Family Member 4C1
Gene Information Card
| Symbol | SLCO4C1 |
|---|---|
| Full Name | Solute Carrier Organic Anion Transporter Family Member 4C1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q21.1 |
| NCBI Gene ID | 353189 ncbi.nlm.nih.gov/gene/353189 |
| Ensembl ID | ENSG00000145675 |
| UniProt ID | Q6ZQN7 |
| OMIM ID | 612435 |
| HGNC ID | 29337 |
| Aliases | OATP4C1, OATP-H, OATP4C1 variant |
Description
SLCO4C1 (Solute Carrier Organic Anion Transporter Family Member 4C1) encodes OATP4C1, a transmembrane protein belonging to the organic anion transporting polypeptide (OATP) family. It mediates the sodium-independent transport of organic anions, including thyroid hormones (T3, T4), and various drugs. OATP4C1 is predominantly expressed in the kidney and plays a role in renal clearance of endogenous and exogenous compounds.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Kidney Disease | Altered transporter expression may affect uremic toxin clearance | PMID: 22956769 |
| Thyroid Hormone Resistance | Impaired cellular uptake of thyroid hormones | PMID: 18434304 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 1.2 | Low |
| Testis | 0.8 | Low |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Overexpressed in recombinant studies |
| HepG2 | 2.1 | Low endogenous expression |
| HK-2 | 8.5 | Kidney proximal tubule cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced transport activity in vitro |
| c.1456G>A (p.Val486Met) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg34Trp reduces thyroid hormone uptake in cellular assays.
Gain of Function (GOF)
No reported gain-of-function mutations.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008514 – organic anion transmembrane transporter activity | • GO:0015347 – sodium-independent organic anion transport |
| • GO:0015886 – thyroid hormone transport | • GO:0016324 – apical plasma membrane |
| • GO:0005887 – integral component of plasma membrane |
Pathways
• Transport of organic anions (REACTOME: R-HSA-879518)
• Thyroid hormone synthesis and transport (KEGG: hsa04918)
Protein Summary
OATP4C1 is a 724-amino acid membrane protein with 12 transmembrane domains. It functions as a sodium-independent organic anion transporter, facilitating cellular uptake of thyroid hormones (T3, T4), cyclic nucleotides, and various drugs. It is highly expressed in the kidney (proximal tubule) and contributes to renal secretion of uremic toxins and xenobiotics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLCO4C1 Knockout HEK293 Cell Line | EDJ-KQ15350 | Human | 353189 | Details Get a Quote |
| SLCO4C1 Knockout HeLa Cell Line | EDJ-KQ59867 | Human | 353189 | Details Get a Quote |
| SLCO4C1 Knockout A-549 Cell Line | EDJ-KQ68331 | Human | 353189 | Details Get a Quote |
| SLCO4C1 Knockout HCT 116 Cell Line | EDJ-KQ76706 | Human | 353189 | Details Get a Quote |
| SLCO4C1 Knockout Huh-7 Cell Line | EDC08661 | Human | 353189 | Details Get a Quote |
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