Gene: SLC22A1
Alternate names for this Gene: HOCT1|OCT1|oct1_cds
Gene Summary: Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter.
Gene is located in Chromosome: 6
Location in Chromosome : 6q25.3
Description of this Gene: solute carrier family 22 member 1
Type of Gene: protein-coding
rs683369 in
SLC22A1 gene and
Arthritis, Gouty
PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.
rs112201728 in
SLC22A1 gene and
Chronic Kidney Diseases
PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
rs9295125 in
SLC22A1 gene and
Coronary heart disease
PMID 22319020 2012 A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.
rs662138 in
SLC22A1 gene and
Glucose measurement
PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.
rs683369 in
SLC22A1 gene and
Gout
PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.
rs112201728 in
SLC22A1 gene and
Kidney Failure, Chronic
PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
rs3798173 in
SLC22A1 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs62440901 in
SLC22A1 gene and
Lipoprotein (a) measurement
PMID 28512139 2017 A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.
rs11753995 in
SLC22A1 gene and
Low density lipoprotein cholesterol measurement
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
rs651164 in
SLC22A1 gene and
Malignant neoplasm of prostate
PMID 21743057 2011 Genome-wide association study identifies new prostate cancer susceptibility loci.
PMID 19767753 2009 Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
rs651164 in
SLC22A1 gene and
Nasopharyngeal carcinoma
PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
rs4646284 in
SLC22A1 gene and
Prostate carcinoma
PMID 26034056 2015 A genome-wide association study (GWAS) of prostate cancer in Kaiser Permanente health plan members (7,783 cases, 38,595 controls; 80.3% non-Hispanic white, 4.9% African-American, 7.0% East Asian, and 7.8% Latino) revealed a new independent risk indel rs4646284 at the previously identified locus 6q25.3 that replicated in PEGASUS (N = 7,539) and the Multiethnic Cohort (N = 4,679) with an overall P = 1.0 × 10(-19) (OR, 1.18).
PMID 21743057 2011 Genome-wide association study identifies new prostate cancer susceptibility loci.
PMID 19767753 2009 Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
rs1564348 in
SLC22A1 gene and
Serum LDL cholesterol measurement
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
rs11753995 in
SLC22A1 gene and
Serum total cholesterol measurement
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
rs12208357 in
SLC22A1 gene and
Triglycerides measurement
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs662138 in
SLC22A1 gene and
elevated blood glucose level
PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.