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 doma... See more...

Aliases for SLC22A1 Gene

Aliases for SLC22A1 Gene

  • Solute Carrier Family 22 Member 1 2 3 4 5
  • Organic Cation Transporter 1 2 3 4
  • OCT1 2 3 4
  • Solute Carrier Family 22 (Organic Cation Transporter), Member 1 2 3
  • HOCT1 3 4
  • Oct1_cds 3
  • SLC22A1 5

External Ids for SLC22A1 Gene

Previous GeneCards Identifiers for SLC22A1 Gene

  • GC06P159982
  • GC06P160416
  • GC06P160452
  • GC06P160513
  • GC06P160462
  • GC06P158013
  • GC06P160542

Summaries for SLC22A1 Gene

Entrez Gene Summary for SLC22A1 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC22A1 Gene

SLC22A1 (Solute Carrier Family 22 Member 1) is a Protein Coding gene. Diseases associated with SLC22A1 include Leukemia, Chronic Myeloid and Chromosome 17Q23.1-Q23.2 Deletion Syndrome. Among its related pathways are Lamotrigine Pathway, Pharmacokinetics and Pharmacodynamics and Atenolol Pathway, Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transmembrane transporter activity. An important paralog of this gene is SLC22A2.

UniProtKB/Swiss-Prot Summary for SLC22A1 Gene

  • Translocates a broad array of organic cations with various structures and molecular weights including the model compounds 1-methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1-methylnicotinamide (NMN), 4-(4-(dimethylamino)styryl)-N-methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine, epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine, NMDA receptor antagonists, atropine, prazosin, cimetidine, TEA and NMN, guanidine, cimetidine, choline, procainamide, quinine, tetrabutylammonium, and tetrapentylammonium. Translocates organic cations in an electrogenic and pH-independent manner. Translocates organic cations across the plasma membrane in both directions. Transports the polyamines spermine and spermidine. Transports pramipexole across the basolateral membrane of the proximal tubular epithelial cells. The choline transport is activated by MMTS. Regulated by various intracellular signaling pathways including inhibition by protein kinase A activation, and endogenously activation by the calmodulin complex, the calmodulin-dependent kinase II and LCK tyrosine kinase.

Gene Wiki entry for SLC22A1 Gene

PharmGKB "VIP" Summary for SLC22A1 Gene

No data available for CIViC Summary , Tocris Summary , Rfam classification and piRNA Summary for SLC22A1 Gene

Genomics for SLC22A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC22A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J160121 Promoter 0.7 EPDnew 250.7 -0.2 -153 0.1 YY1 RXRA HNF4A MAX REST TAF1 ATF3 SP1 SLC22A1 lnc-SLC22A2-1 IGF2R
GH06J160122 Promoter 0.7 EPDnew 250.7 +0.1 59 0.1 YY1 RXRA HNF4A REST MAX ATF3 SP1 SLC22A1 HSALNG0054805 SLC22A2
GH06J160101 Enhancer 1.1 Ensembl ENCODE 21.5 -20.7 -20707 3 IKZF1 MYC NCOR1 ZNF592 CEBPA ATF3 NFIC YY1 NONO HES1 SLC22A1 MAP3K4 IGF2R lnc-SLC22A1-2 lnc-SLC22A1-3
GH06J160088 Enhancer 0.8 Ensembl ENCODE 21.6 -31.8 -31838 3.7 REST CTCF RXRA RAD21 SMC3 HNF4A HLF ZNF143 XRCC5 FOS HSALNG0054802 SLC22A1 CHP1P2 ENSG00000236823 MAS1 piR-46389-018 IGF2R
GH06J160137 Enhancer 1.1 Ensembl ENCODE 11.5 +16.7 16712 3 ZNF654 MYC SSRP1 JUND ZMYM3 KLF9 CEBPA YY1 MXD4 REST HSALNG0054806 SLC22A1 SLC22A3 NONHSAG045311.2 SLC22A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC22A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC22A1

Top Transcription factor binding sites by QIAGEN in the SLC22A1 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for SLC22A1 Gene

Latest Assembly
chr6:160,121,808-160,160,590
(GRCh38/hg38)
Size:
38,783 bases
Orientation:
Plus strand

Previous Assembly
chr6:160,542,847-160,579,750
(GRCh37/hg19 by Entrez Gene)
Size:
36,904 bases
Orientation:
Plus strand

chr6:160,542,821-160,579,750
(GRCh37/hg19 by Ensembl)
Size:
36,930 bases
Orientation:
Plus strand

Genomic View for SLC22A1 Gene

Genes around SLC22A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC22A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC22A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC22A1 Gene

Proteins for SLC22A1 Gene

  • Protein details for SLC22A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15245-S22A1_HUMAN
    Recommended name:
    Solute carrier family 22 member 1
    Protein Accession:
    O15245
    Secondary Accessions:
    • A6NFF3
    • A8K1H2
    • C9JSU6
    • O15395
    • Q9NQD4

    Protein attributes for SLC22A1 Gene

    Size:
    554 amino acids
    Molecular mass:
    61154 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for SLC22A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC22A1 Gene

Post-translational modifications for SLC22A1 Gene

No data available for DME Specific Peptides for SLC22A1 Gene

Domains & Families for SLC22A1 Gene

Gene Families for SLC22A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLC22A1 Gene

GenScript: Design optimal peptide antigens:
  • Organic cation transporter 1 (S22A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15245

UniProtKB/Swiss-Prot:

S22A1_HUMAN :
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
Family:
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
genes like me logo Genes that share domains with SLC22A1: view

Function for SLC22A1 Gene

Molecular function for SLC22A1 Gene

UniProtKB/Swiss-Prot Function:
Translocates a broad array of organic cations with various structures and molecular weights including the model compounds 1-methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1-methylnicotinamide (NMN), 4-(4-(dimethylamino)styryl)-N-methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine, epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine, NMDA receptor antagonists, atropine, prazosin, cimetidine, TEA and NMN, guanidine, cimetidine, choline, procainamide, quinine, tetrabutylammonium, and tetrapentylammonium. Translocates organic cations in an electrogenic and pH-independent manner. Translocates organic cations across the plasma membrane in both directions. Transports the polyamines spermine and spermidine. Transports pramipexole across the basolateral membrane of the proximal tubular epithelial cells. The choline transport is activated by MMTS. Regulated by various intracellular signaling pathways including inhibition by protein kinase A activation, and endogenously activation by the calmodulin complex, the calmodulin-dependent kinase II and LCK tyrosine kinase.
UniProtKB/Swiss-Prot Induction:
In the liver activated by HNF4A and suppressed by bile acids via NR0B2. Increased by cholesterol treatment in hepatocyte cells.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.47 mM for metformin {ECO:0000269|PubMed:16272756, ECO:0000269|PubMed:9187257, ECO:0000269|PubMed:9655880}; KM=229 uM for TEA {ECO:0000269|PubMed:16272756, ECO:0000269|PubMed:9187257, ECO:0000269|PubMed:9655880}; KM=14.6 uM for MPP {ECO:0000269|PubMed:16272756, ECO:0000269|PubMed:9187257, ECO:0000269|PubMed:9655880}; Vmax=396 pmol/min/mg enzyme for metformin uptake {ECO:0000269|PubMed:16272756, ECO:0000269|PubMed:9187257, ECO:0000269|PubMed:9655880}; Vmax=2.89 nmol/min/mg enzyme for TEA uptake {ECO:0000269|PubMed:16272756, ECO:0000269|PubMed:9187257, ECO:0000269|PubMed:9655880};
GENATLAS Biochemistry:
solute carrier family 22,member A1,polyspecific transporter for organic cations,mainly expressed in liver

Phenotypes From GWAS Catalog for SLC22A1 Gene

Gene Ontology (GO) - Molecular Function for SLC22A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005277 acetylcholine transmembrane transporter activity IEA --
GO:0005326 neurotransmitter transporter activity IDA 24688079
GO:0005330 dopamine:sodium symporter activity IEA --
GO:0005334 norepinephrine:sodium symporter activity IEA --
GO:0005515 protein binding IPI 11543633
genes like me logo Genes that share ontologies with SLC22A1: view
genes like me logo Genes that share phenotypes with SLC22A1: view

Animal Models for SLC22A1 Gene

MGI Knock Outs for SLC22A1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC22A1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC22A1 Gene

Localization for SLC22A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC22A1 Gene

Basolateral cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC22A1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC22A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9187257
GO:0016020 membrane IEA,TAS 9187257
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC22A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC22A1 Gene

Pathways & Interactions for SLC22A1 Gene

genes like me logo Genes that share pathways with SLC22A1: view

Gene Ontology (GO) - Biological Process for SLC22A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006836 neurotransmitter transport IDA 24688079
GO:0006855 drug transmembrane transport TAS --
GO:0010248 establishment or maintenance of transmembrane electrochemical gradient IEA --
genes like me logo Genes that share ontologies with SLC22A1: view

No data available for SIGNOR curated interactions for SLC22A1 Gene

Drugs & Compounds for SLC22A1 Gene

(111) Drugs for SLC22A1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amantadine Approved Pharma Transporter, substrate, inhibitor 88
imatinib Approved Pharma Transporter, substrate Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Metformin Approved Pharma Transporter, substrate AMP-activated protein kinase (AMPK) activator 2304
Cimetidine Approved, Investigational Pharma Transporter, substrate, inhibitor H2 receptor antagonist 113
Desipramine Approved, Investigational Pharma Transporter, inhibitor 42

(11) Additional Compounds for SLC22A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-desmethylimatinib
  • CGP74588
  • N-Desmethylimatinib
O-Desmethylverapamil (D-702)
genes like me logo Genes that share compounds with SLC22A1: view

Transcripts for SLC22A1 Gene

mRNA/cDNA for SLC22A1 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC22A1

Alternative Splicing Database (ASD) splice patterns (SP) for SLC22A1 Gene

No ASD Table

Relevant External Links for SLC22A1 Gene

GeneLoc Exon Structure for
SLC22A1

Expression for SLC22A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC22A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC22A1 Gene

This gene is overexpressed in Liver (x50.5).

Protein differential expression in normal tissues from HIPED for SLC22A1 Gene

This gene is overexpressed in Gallbladder (28.4), Liver (22.3), and Plasma (18.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC22A1 Gene



Protein tissue co-expression partners for SLC22A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC22A1

SOURCE GeneReport for Unigene cluster for SLC22A1 Gene:

Hs.117367

mRNA Expression by UniProt/SwissProt for SLC22A1 Gene:

O15245-S22A1_HUMAN
Tissue specificity: Widely expressed with high level in liver. Isoform 1 and isoform 2 are expressed in liver. Isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in glial cell lines.

Evidence on tissue expression from TISSUES for SLC22A1 Gene

  • Liver(4.8)
  • Nervous system(4.3)
  • Kidney(2.4)
  • Blood(2.3)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with SLC22A1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC22A1 Gene

Orthologs for SLC22A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC22A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC22A1 29 30
  • 95.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC22A1 29 30
  • 82.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC22A1 29 30
  • 82.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc22a1 29
  • 80.57 (n)
Mouse
(Mus musculus)
Mammalia Slc22a1 29 16 30
  • 80.57 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC22A1 30
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC22A1 30
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 64 (a)
ManyToMany
-- 30
  • 63 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 63 (a)
ManyToMany
-- 30
  • 61 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii slc22a2 30
  • 47 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Orct 31
  • 34 (a)
CG8654 31
  • 33 (a)
CG13610 31
  • 31 (a)
CG6600 31
  • 31 (a)
CG4630 30 31
  • 30 (a)
ManyToMany
CG3790 31
  • 30 (a)
CG9317 31
  • 30 (a)
CG6126 31
  • 29 (a)
CG7442 30 31
  • 28 (a)
ManyToMany
CG7458 30 31
  • 27 (a)
ManyToMany
CG6231 31
  • 27 (a)
CG7084 31
  • 26 (a)
Worm
(Caenorhabditis elegans)
Secernentea oct-1 31
  • 29 (a)
F52F12.1a 31
  • 29 (a)
B0252.3 31
  • 29 (a)
K05F1.6 31
  • 26 (a)
ZK455.8a 31
  • 26 (a)
ZK455.8b 31
  • 26 (a)
Y82E9BR.16 31
  • 26 (a)
Species where no ortholog for SLC22A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for SLC22A1 Gene

ENSEMBL:
Gene Tree for SLC22A1 (if available)
TreeFam:
Gene Tree for SLC22A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC22A1: view image
Alliance of Genome Resources:
Additional Orthologs for SLC22A1

Paralogs for SLC22A1 Gene

(11) SIMAP similar genes for SLC22A1 Gene using alignment to 3 proteins:

  • S22A1_HUMAN
  • F5GY86_HUMAN
  • F5H5P3_HUMAN
genes like me logo Genes that share paralogs with SLC22A1: view

Variants for SLC22A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC22A1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
403448 Benign: not specified 160,139,865(+) CTGGTAAGT/C
NM_003057.3(SLC22A1):c.1276+9_1276+16del
SPLICE_DONOR
rs16891138 Benign: not provided 160,158,564(+) A/C
NM_003057.3(SLC22A1):c.1647A>C (p.Ser549=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs201942835 Benign: not provided 160,130,185(+) G/T
NM_003057.3(SLC22A1):c.493G>T (p.Gly165Cys)
MISSENSE
rs34134157 Benign: not provided 160,132,274(+) C/T
NM_003057.3(SLC22A1):c.558C>T (p.Asn186=)
SYNONYMOUS
rs35956182 Benign: not provided 160,143,584(+) G/Ap.Met440Ile
NM_003057.3(SLC22A1):c.1320G>A (p.Met440Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC22A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC22A1 Gene

Variant ID Type Subtype PubMed ID
esv1157586 CNV deletion 17803354
esv23905 CNV loss 19812545
esv2733046 CNV deletion 23290073
esv2733047 CNV deletion 23290073
esv2733048 CNV deletion 23290073
esv2733049 CNV deletion 23290073
esv2759484 CNV gain+loss 17122850
esv33283 CNV gain 17666407
esv35098 CNV gain 17911159
esv3611425 CNV gain 21293372
nsv818463 CNV gain 17921354

Variation tolerance for SLC22A1 Gene

Residual Variation Intolerance Score: 95.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.18; 87.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC22A1 Gene

Human Gene Mutation Database (HGMD)
SLC22A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC22A1
Leiden Open Variation Database (LOVD)
SLC22A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC22A1 Gene

Disorders for SLC22A1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC22A1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
leukemia, chronic myeloid
  • cml
chromosome 17q23.1-q23.2 deletion syndrome
  • 17q23.1-q23.2 microdeletion syndrome
type 2 diabetes mellitus
  • t2d
diabetes mellitus
  • diabetes
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC22A1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC22A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC22A1 Gene

Publications for SLC22A1 Gene

  1. Seven novel single nucleotide polymorphisms in the human SLC22A1 gene encoding organic cation transporter 1 (OCT1). (PMID: 15499200) Itoda M … Sawada J (Drug metabolism and pharmacokinetics 2004) 3 4 22 40
  2. Cloning and functional expression of a human liver organic cation transporter. (PMID: 9187257) Zhang L … Giacomini KM (Molecular pharmacology 1997) 3 4 22 25
  3. The effects of genetic polymorphisms in the organic cation transporters OCT1, OCT2, and OCT3 on the renal clearance of metformin. (PMID: 19536068) Tzvetkov MV … Brockmöller J (Clinical pharmacology and therapeutics 2009) 3 22 40
  4. Genetic variation in the organic cation transporter 1 is associated with metformin response in patients with diabetes mellitus. (PMID: 19381165) Becker ML … Stricker BH (The pharmacogenomics journal 2009) 3 22 40
  5. Reduced-function SLC22A1 polymorphisms encoding organic cation transporter 1 and glycemic response to metformin: a GoDARTS study. (PMID: 19336679) Zhou K … Pearson ER (Diabetes 2009) 3 22 40

Products for SLC22A1 Gene

Sources for SLC22A1 Gene