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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC22A1
solute carrier family 22 member 1
Chromosome 6 · 6q25.3
NCBI Gene: 6580Ensembl: ENSG00000175003.16HGNC: HGNC:10963UniProt: O15245
177PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acetylcholine transmembrane transporter activityneurotransmitter transmembrane transporter activitycholine transmembrane transporter activityputrescine transmembrane transporter activitycoronary artery diseaseHypercholesterolemiametabolic diseaseMyocardial Ischemia
✦AI Summary

SLC22A1 encodes organic cation transporter 1 (OCT1), a polyspecific membrane transporter that mediates facilitated transport of structurally diverse organic cations including drugs, toxins, and endogenous compounds 1. OCT1 is primarily localized to the basolateral membrane of hepatocytes, enterocytes, and renal proximal tubular cells, playing crucial roles in drug absorption, distribution, and elimination 1. The transporter exhibits classic Michaelis-Menten kinetics with a Km of approximately 14 μM for model substrates in primary human hepatocytes 2. OCT1 is clinically significant as a major determinant of metformin pharmacokinetics, the first-line diabetes medication 3. Genetic polymorphisms in SLC22A1, particularly rs628031, rs683369, and rs12208357, substantially affect drug transport activity and are associated with altered metformin plasma concentrations, therapeutic response, and HbA1c levels 34. These variants also influence response to other medications like imatinib in chr6 myeloid leukemia treatment 5. Additionally, certain SLC22A1 polymorphisms are associated with increased type 2 diabetes risk in Chinese populations 6. The transporter's broad substrate specificity and pharmacogenetic variability make it a critical factor in personalized medicine and drug-drug interactions 7.

Sources cited
1
OCT1 mediates facilitated transport of diverse organic cations and is located in basolateral membranes of hepatocytes, enterocytes, and renal cells
PMID: 14576340
2
OCT1 exhibits Michaelis-Menten kinetics with Km of 14 μM in primary human hepatocytes
PMID: 39068198
3
SLC22A1 polymorphisms significantly affect metformin pharmacokinetics and HbA1c levels
PMID: 37550919
4
Specific SLC22A1 variants influence metformin steady-state concentrations and glycemic response
PMID: 35905099
5
SLC22A1 genetic variants affect imatinib treatment response in chronic myeloid leukemia
PMID: 29427770
6
SLC22A1 polymorphisms are associated with increased type 2 diabetes risk
PMID: 30274012
7
Genetic variation in SLC22A1 contributes to interindividual pharmacokinetic variability
PMID: 19835554
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.54Moderate
HypercholesterolemiaOpen Targets
0.53Moderate
metabolic diseaseOpen Targets
0.52Moderate
Myocardial IschemiaOpen Targets
0.51Moderate
coronary atherosclerosisOpen Targets
0.49Moderate
familial hyperlipidemiaOpen Targets
0.49Moderate
hyperlipidemiaOpen Targets
0.45Moderate
response to statinOpen Targets
0.43Moderate
Disorder of lipid metabolismOpen Targets
0.42Moderate
cardiovascular diseaseOpen Targets
0.40Weak
angina pectorisOpen Targets
0.36Weak
atherosclerosisOpen Targets
0.36Weak
myocardial infarctionOpen Targets
0.34Weak
Abnormal pupillary functionOpen Targets
0.31Weak
essential hypertensionOpen Targets
0.31Weak
vascular diseaseOpen Targets
0.31Weak
intermediate coronary syndromeOpen Targets
0.29Weak
heart valve diseaseOpen Targets
0.26Weak
aortic valve diseaseOpen Targets
0.24Weak
prostate carcinomaOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPNS3Protein interaction89%SLCO1B1Protein interaction89%ABCG2Protein interaction89%SLCO1B3Protein interaction87%SLC28A1Protein interaction87%CERS2Protein interaction86%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Ovary
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
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SLC22A1SPNS3SLCO1B1ABCG2SLCO1B3SLC28A1CERS2
PROTEIN STRUCTURE
Preparing viewer…
PDB8SC1 · 2.92 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.74–1.19]
RankingsWhere SLC22A1 stands among ~20K protein-coding genes
  • #2,471of 20,598
    Most Researched177 · top quartile
  • #12,460of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedSLC22A1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
OCT1 (SLC22A1) transporter kinetics and regulation in primary human hepatocyte 3D spheroids.
PMID: 39068198
Sci Rep · 2024
1.00
2
The SLC22 Transporter Family: A Paradigm for the Impact of Drug Transporters on Metabolic Pathways, Signaling, and Disease.
PMID: 29309257
Annu Rev Pharmacol Toxicol · 2018
0.90
3
Influence of Solute Carrier Family 22 Member 1 (
PMID: 37550919
Curr Diabetes Rev · 2024
0.80
4
Investigating the diagnostic and prognostic significance of genes related to fatty acid metabolism in hepatocellular carcinoma.
PMID: 39548390
BMC Gastroenterol · 2024
0.72
5
Impact of SLC22A1 and CYP3A5 genotypes on imatinib response in chronic myeloid leukemia: A systematic review and meta-analysis.
PMID: 29427770
Pharmacol Res · 2018
0.70