SLC22A1 (solute carrier family 22 member 1)

2010-05-01 Affiliation

Identity

HGNC

SLC22A1

LOCATION

6q25.3

LOCUSID

6580

ALIAS

HOCT1,OCT1,oct1_cds

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6580
MIM: 602607
HGNC: 10963
Ensembl: ENSG00000175003

Variants:

dbSNP: 6580
ClinVar: 6580
TCGA: ENSG00000175003
COSMIC: SLC22A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000175003	ENST00000324965	O15245
ENSG00000175003	ENST00000366963	O15245
ENSG00000175003	ENST00000457470	O15245
ENSG00000175003	ENST00000460902	O15245
ENSG00000175003	ENST00000539263	F5H5P3
ENSG00000175003	ENST00000540443	F5GY86

Expression (GTEx)

100

150

200

250

300

350

400

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Bile secretion	KEGG	ko04976
Bile secretion	KEGG	hsa04976
Choline metabolism in cancer	KEGG	hsa05231
Choline metabolism in cancer	KEGG	ko05231
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Release Cycle	REACTOME	R-HSA-112310
Norepinephrine Neurotransmitter Release Cycle	REACTOME	R-HSA-181430
Neurotransmitter Clearance In The Synaptic Cleft	REACTOME	R-HSA-112311
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	REACTOME	R-HSA-425366
Na+/Cl- dependent neurotransmitter transporters	REACTOME	R-HSA-442660
Organic cation/anion/zwitterion transport	REACTOME	R-HSA-549132
Organic cation transport	REACTOME	R-HSA-549127
Metabolism	REACTOME	R-HSA-1430728
Abacavir transport and metabolism	REACTOME	R-HSA-2161522
Abacavir transmembrane transport	REACTOME	R-HSA-2161517

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA10804	imatinib	Chemical	ClinicalAnnotation, VipGene	associated	PK	PD	19584153, 23223357, 18398725, 24589908, 28762371, 29427770, 30237583, 30713339
PA151958383	Gastrointestinal Stromal Tumors	Disease	ClinicalAnnotation	associated		PD	28762371
PA161925594	tropisetron	Chemical	VipGene	associated			20921968
PA164712420	Anticholinergics	Chemical	ClinicalAnnotation	associated		PD
PA164712431	Antiemetics And Antinauseants	Chemical	VariantAnnotation	associated	PK	PD	20921968
PA164712697	Dopamine agonists	Chemical	ClinicalAnnotation	associated		PD
PA166129521	sedation	Disease	VariantAnnotation	associated		PD	23835420
PA166131379	o-desmethyltramadol	Chemical	VariantAnnotation	associated	PK		27082504
PA166157178	rs12208357	Variant	VipGene	associated
PA166157196	rs34059508	Variant	VipGene	associated
PA166157197	rs34130495	Variant	VipGene	associated			14576340
PA166157216	rs72552763	Variant	VipGene	associated
PA443886	Diabetes Mellitus	Disease	ClinicalAnnotation	associated		PD	19381165, 19898263
PA443890	Diabetes Mellitus, Type 2	Disease	ClinicalAnnotation	associated	PK	PD	17111267, 22735389
PA443928	Dizziness	Disease	VariantAnnotation	associated		PD	23835420
PA443937	Drug Toxicity	Disease	VariantAnnotation	associated		PD	23835420
PA444065	Epilepsy	Disease	ClinicalAnnotation	associated	PK	PD	27610747
PA444354	Headache	Disease	VariantAnnotation	associated		PD	23835420
PA445048	Nausea	Disease	VariantAnnotation	associated		PD	23835420
PA445062	Neoplasms	Disease	ClinicalAnnotation	associated	PK	PD	29427770, 30237583, 30713339
PA445208	Pain	Disease	VariantAnnotation	associated	PK		27082504
PA445254	Parkinson Disease	Disease	ClinicalAnnotation	associated		PD
PA446171	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	Disease	ClinicalAnnotation	associated	PK	PD	24589908
PA448360	amantadine	Chemical	ClinicalAnnotation	associated		PD
PA449088	codeine	Chemical	VariantAnnotation	ambiguous	PK	PD	23835420
PA450163	lamivudine	Chemical	Pathway	associated
PA450164	lamotrigine	Chemical	ClinicalAnnotation	associated	PK	PD	27610747
PA450213	levodopa	Chemical	ClinicalAnnotation	associated		PD
PA450395	metformin	Chemical	ClinicalAnnotation, Literature, MultilinkAnnotation, Pathway, VipGene	associated	PK	PD	19536068, 19898263, 20690652, 21989078, 17111267, 17609683, 19381165, 19898263, 21989078, 22722338, 22735389, 24624919, 26700958, 27859023, 28380657, 28834135, 29352482
PA450550	morphine	Chemical	VariantAnnotation, VipGene	associated	PK		23835420
PA451124	proguanil	Chemical	VariantAnnotation	associated	PK		29882324
PA451316	selegiline	Chemical	ClinicalAnnotation	associated		PD
PA451735	tramadol	Chemical	ClinicalAnnotation, VipGene	associated	PK		21562485
PA7000	sorafenib	Chemical	MultilinkAnnotation, VipGene	associated			23532667

References

Pubmed ID	Year	Title	Citations
17476361	2007	Effect of genetic variation in the organic cation transporter 1 (OCT1) on metformin action.	225
17609683	2008	Effect of genetic variation in the organic cation transporter 1, OCT1, on metformin pharmacokinetics.	122
19591196	2009	Expression of organic cation transporters OCT1 (SLC22A1) and OCT3 (SLC22A3) is affected by genetic factors and cholestasis in human liver.	97
19591196	2009	Expression of organic cation transporters OCT1 (SLC22A1) and OCT3 (SLC22A3) is affected by genetic factors and cholestasis in human liver.	97
16597591	2006	OCT-1-mediated influx is a key determinant of the intracellular uptake of imatinib but not nilotinib (AMN107): reduced OCT-1 activity is the cause of low in vitro sensitivity to imatinib.	95
20682687	2010	Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.	88
19536068	2009	The effects of genetic polymorphisms in the organic cation transporters OCT1, OCT2, and OCT3 on the renal clearance of metformin.	68
19381165	2009	Genetic variation in the organic cation transporter 1 is associated with metformin response in patients with diabetes mellitus.	66
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18559609	2008	Dasatinib cellular uptake and efflux in chronic myeloid leukemia cells: therapeutic implications.	60

Citation

Dessen P

SLC22A1 (solute carrier family 22 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51461/slc22a1