SLC22A1
Solute Carrier Family 22 Member 1
Gene Information Card
| Symbol | SLC22A1 |
|---|---|
| Full Name | Solute Carrier Family 22 Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 6580 ncbi.nlm.nih.gov/gene/6580 |
| Ensembl ID | ENSG00000175003 |
| UniProt ID | O15245 |
| OMIM ID | 602521 |
| HGNC ID | 10963 |
| Aliases | OCT1, HOCT1, OCT1A, OCT1B |
Description
SLC22A1 encodes the organic cation transporter 1 (OCT1), a polyspecific transporter primarily expressed in the liver. OCT1 mediates the uptake of endogenous compounds and xenobiotics, including the antidiabetic drug metformin, antiviral agents, and neurotransmitters. Genetic variants in SLC22A1 can alter transporter activity, affecting drug pharmacokinetics and response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metformin response variability | Reduced hepatic uptake due to loss-of-function variants | ClinVar, PMID: 25994071 |
| Imatinib-induced hepatotoxicity | Impaired drug transport leading to accumulation | PMID: 23486447 |
| Chronic myeloid leukemia (CML) | Altered imatinib uptake in leukemic cells | COSMIC, PMID: 18668183 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 32.5 | High |
| Kidney | 8.2 | Medium |
| Small intestine | 6.1 | Medium |
| Skeletal muscle | 1.3 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma line |
| Caco-2 | 4.7 | Colorectal adenocarcinoma |
| HEK293 | 0.2 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12208357 (R61C) | Missense | 5-10% (European) | Reduced transport activity |
| rs34130495 (G401S) | Missense | 1-2% (European) | Loss of function |
| rs34059508 (G465R) | Missense | <1% | Severely reduced function |
| rs622342 (intronic) | Intronic variant | 20-30% | Associated with altered metformin response |
Mutation functional classification
Loss of Function (LOF)
R61C, G401S, G465R reduce or abolish metformin and imatinib uptake.
Gain of Function (GOF)
No well-characterized gain-of-function variants reported.
Dominant Negative (DN)
Not described for SLC22A1.
View complete mutation data：
Gene Ontology (GO)
| • organic cation transmembrane transporter activity (GO:0015205) | • drug transmembrane transporter activity (GO:0015238) |
| • integral component of membrane (GO:0016021) | • transmembrane transport (GO:0055085) |
| • organic cation transport (GO:0015695) |
Pathways
• Metformin pharmacokinetics pathway (Reactome: R-HSA-975298)
• Transport of organic cations (Reactome: R-HSA-549127)
• Drug ADME (PharmGKB: PA165108541)
Protein Summary
OCT1 is a 554-amino acid polyspecific organic cation transporter with 12 transmembrane domains. It localizes to the basolateral membrane of hepatocytes and facilitates the uptake of cationic drugs. OCT1 function is critical for the hepatic clearance of metformin and is modulated by genetic polymorphisms affecting drug efficacy and toxicity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC22A1 Knockout HEK293 Cell Line | EDJ-KQ5796 | Human | 6580 | Details Get a Quote |
| SLC22A13 Knockout HEK293 Cell Line | EDJ-KQ5909 | Human | 9390 | Details Get a Quote |
| SLC22A14 Knockout HEK293 Cell Line | EDJ-KQ6571 | Human | 9389 | Details Get a Quote |
| SLC22A10 Knockout HEK293 Cell Line | EDJ-KQ7446 | Human | 387775 | Details Get a Quote |
| SLC22A12 Knockout HEK293 Cell Line | EDJ-KQ7545 | Human | 116085 | Details Get a Quote |
| SLC22A16 Knockout HEK293 Cell Line | EDJ-KQ9593 | Human | 85413 | Details Get a Quote |
| SLC22A17 Knockout HEK293 Cell Line | EDJ-KQ11039 | Human | 51310 | Details Get a Quote |
| SLC22A15 Knockout HEK293 Cell Line | EDJ-KQ14511 | Human | 55356 | Details Get a Quote |
| SLC22A11 Knockout HEK293 Cell Line | EDJ-KQ15302 | Human | 55867 | Details Get a Quote |
| SLC22A1 Knockout A-549 Cell Line | EDJ-KQ29210 | Human | 6580 | Details Get a Quote |
| SLC22A17 Knockout HCT 116 Cell Line | EDJ-KQ38941 | Human | 51310 | Details Get a Quote |
| SLC22A15 Knockout A-549 Cell Line | EDJ-KQ45999 | Human | 55356 | Details Get a Quote |
| SLC22A15 Knockout HCT 116 Cell Line | EDJ-KQ46000 | Human | 55356 | Details Get a Quote |
| SLC22A15 Knockout HeLa Cell Line | EDJ-KQ46001 | Human | 55356 | Details Get a Quote |
| SLC22A17 Knockout A-549 Cell Line | EDJ-KQ37633 | Human | 51310 | Details Get a Quote |
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