SLCO1C1
Solute Carrier Organic Anion Transporter Family Member 1C1
Gene Information Card
| Symbol | SLCO1C1 |
|---|---|
| Full Name | Solute Carrier Organic Anion Transporter Family Member 1C1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p12.2 |
| NCBI Gene ID | 53919 ncbi.nlm.nih.gov/gene/53919 |
| Ensembl ID | ENSG00000139155 |
| UniProt ID | Q9NYB5 |
| OMIM ID | 609672 |
| HGNC ID | 10958 |
| Aliases | OATP1C1, OATP-F, OATP14, SLC21A14 |
Description
SLCO1C1 encodes a member of the organic anion transporting polypeptide (OATP) family, specifically OATP1C1. This transporter is highly expressed in the brain and thyroid, mediating the cellular uptake of thyroid hormones (T4 and T3) and other organic anions. It plays a critical role in thyroid hormone transport across the blood-brain barrier and into target tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thyroid hormone metabolism disorder | Impaired T4 transport due to SLCO1C1 deficiency | Case reports, functional studies |
| Intellectual disability | Reduced brain T4 uptake leading to hypothyroidism in CNS | Case reports, animal models |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Thyroid | 8.2 | Medium |
| Liver | 3.1 | Low |
| Testis | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.1 | Neuronal cell line |
| HepG2 | 4.5 | Hepatocellular carcinoma |
| MCF7 | 1.2 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.757C>T (p.Arg253Trp) | Missense | <0.01% | Reduced T4 transport activity |
| c.1204G>A (p.Gly402Ser) | Missense | <0.01% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
p.Arg253Trp reduces T4 uptake
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • transmembrane transport | • thyroid hormone transport |
| • organic anion transport | • integral component of membrane |
Pathways
• Thyroid hormone synthesis and transport
• Organic anion transporters
Protein Summary
OATP1C1 is a 12-transmembrane domain protein that functions as a sodium-independent organic anion transporter. It specifically transports thyroid hormones (T4, T3) and is essential for brain thyroid hormone homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLCO1C1 Knockout HEK293 Cell Line | EDJ-KQ11370 | Human | 53919 | Details Get a Quote |
| SLCO1C1 Knockout HeLa Cell Line | EDJ-KQ39560 | Human | 53919 | Details Get a Quote |
| SLCO1C1 Knockout A-549 Cell Line | EDJ-KQ64881 | Human | 53919 | Details Get a Quote |
| SLCO1C1 Knockout HCT 116 Cell Line | EDJ-KQ73324 | Human | 53919 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
