SLC22A5 - solute carrier family 22 member 5 Gene

Also Known as CDSP; OCTN2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6584

About SLC22A5

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,369,710-132,395,612 (from NCBI)

This gene has 22 transcripts (splice variants), 445 orthologues, 22 paralogues and is associated with 4 phenotypes. Broad expression in kidney (RPKM 17.3), small intestine (RPKM 11.3) and 23 other tissues.

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. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

SLC22A5 Products (2)

mRNA	Protein	Name
NM_001308122.2	NP_001295051.1	solute carrier family 22 member 5 isoform a
NM_003060.4	NP_003051.1	solute carrier family 22 member 5 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables (R)-carnitine transmembrane transporter activity	IDA IDA: Inferred from direct assay	17509700	GOA
enables (R)-carnitine transmembrane transporter activity	IDA IDA: Inferred from direct assay	17509700	GOA
enables (R)-carnitine transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	23877104	GOA
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	15523054	GOA
enables amino-acid betaine transmembrane transporter activity	IDA IDA: Inferred from direct assay	33124720	GOA
enables carnitine transmembrane transporter activity	EXP EXP: Inferred from Experiment	9685390	GOA
enables carnitine transmembrane transporter activity	IDA IDA: Inferred from direct assay	9685390	GOA
enables carnitine transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	9916797	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15523054	GOA
enables quaternary ammonium group transmembrane transporter activity	IDA IDA: Inferred from direct assay	9618255	GOA
enables quaternary ammonium group transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	10454528	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in (R)-carnitine transmembrane transport	IDA IDA: Inferred from direct assay	10454528	GOA
involved in (R)-carnitine transmembrane transport	IMP IMP: Inferred from mutant phenotype	23877104	GOA
NOT involved in (R)-carnitine transport	IDA IDA: Inferred from direct assay	17509700	GOA
involved in (R)-carnitine transport	IDA IDA: Inferred from direct assay	17509700	GOA
involved in carnitine transport	IDA IDA: Inferred from direct assay	9685390	GOA
involved in carnitine transport	IMP IMP: Inferred from mutant phenotype	9916797	GOA
involved in positive regulation of intestinal epithelial structure maintenance	IMP IMP: Inferred from mutant phenotype	18005709	GOA
involved in quaternary ammonium group transport	IDA IDA: Inferred from direct assay	9618255	GOA
involved in quaternary ammonium group transport	IMP IMP: Inferred from mutant phenotype	10454528	GOA
involved in response to symbiotic bacterium	IMP IMP: Inferred from mutant phenotype	18005709	GOA
involved in response to tumor necrosis factor	IDA IDA: Inferred from direct assay	20722056	GOA
involved in response to type II interferon	IDA IDA: Inferred from direct assay	20722056	GOA
involved in sodium-dependent organic cation transport	IDA IDA: Inferred from direct assay	9685390	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	17274673	GOA
located in basal plasma membrane	IDA IDA: Inferred from direct assay	35307651	GOA
located in brush border membrane	IDA IDA: Inferred from direct assay	15238359	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	17509700	GOA
NOT located in plasma membrane	IDA IDA: Inferred from direct assay	17509700	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17509700	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC22A5 Protein Structure

Sugar_tr

0
100
200
300
400
500
557 a.a.

Protein Preferred Names	Protein Names
solute carrier family 22 member 5	high-affinity sodium dependent carnitine cotransporter

SLC22A5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC22A5	O76082	KRT34	Homo sapiens	O76011	Y2H Prey Pooling	32296183
Intra	SLC22A5	O76082	KRT34	Homo sapiens	O76011	Y2H Array	32296183
Intra	SLC22A5	O76082	HMGCS1	Homo sapiens	Q01581	Anti Tag CoIP	28514442
Intra	SLC22A5	O76082	HMGCS1	Homo sapiens	Q01581	Anti Tag CoIP	33961781
Intra	SLC22A5	O76082	MTUS2	Homo sapiens	Q5JR59-3	Y2H Prey Pooling	32296183
Intra	SLC22A5	O76082	MTUS2	Homo sapiens	Q5JR59-3	Validated Y2H	32296183
Intra	SLC22A5	O76082	MTUS2	Homo sapiens	Q5JR59-3	Y2H Array	32296183
Intra	SLC22A5	O76082	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Array	32296183
Intra	SLC22A5	O76082	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Prey Pooling	32296183
Intra	SLC22A5	O76082	NOTCH2NLC	Homo sapiens	P0DPK4	Validated Y2H	32296183
Intra	SLC22A5	O76082	KRTAP6-3	Homo sapiens	Q3LI67	Y2H Array	32296183
Intra	SLC22A5	O76082	KRTAP6-3	Homo sapiens	Q3LI67	Y2H Prey Pooling	32296183
Intra	SLC22A5	O76082	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
Intra	SLC22A5	O76082	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
Intra	SLC22A5	O76082	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Carnitine Deficiency, Systemic Primary	Carnitine Uptake Defect Renal Carnitine Transport Defect Systemic Primary Carnitine Deficiency CDSP Systemic Carnitine Deficiency Carnitine Transporter Deficiency Cud Primary Carnitine Deficiency Carnitine Uptake Deficiency Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine Carnitine Deficiency, Primary Systemic Primary Carnitine Deficiency Disease Deficiency Of Plasma-Membrane Carnitine Transporter Scd Carnitine Transporter, Plasma-Membrane, Deficiency Of Carnitine Transport Defect Carnitine Plasma-Membrane Transporter Deficiency Carnitine Transporter Defect Spcd
Visceral Steatosis, Congenital	Fatty Metamorphosis Of Viscera Steatosis Of Liver White Liver Disease Visceral Steatosis Fatty Liver Disease, Congenital Fatal Neonatal Hepatic Steatosis Steatohepatitis
Cardiomyopathy, Dilated, 1a	Dilated Cardiomyopathy 1a Cdcd1 CMD1A Cardiomyopathy, Familial Idiopathic Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation Cardiomyopathy, Dilated, With Conduction Defect 1 Cardiomyopathy, Idiopathic Dilated Cardiomyopathy, Congestive Dilated Cardiomyopathy With Conduction Defect 1 Cardiomyopathy Dilated With Conduction Defect Type 1 Cardiomyopathy, Dilated 1a Cardiomyopathy Dilated With Conduction Defect 1 Cardiomyopathy, Dilated, Type 1a
Cardiomyopathy, Dilated, 1h	Dilated Cardiomyopathy 1h Dilated Cardiomyopathy With Conduction Defect CMD1H Cardiomyopathy, Dilated, With Conduction Defect
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Myopathy	Muscular Diseases Myopathies
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Inflammatory Bowel Disease 5	IBD5
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Carnitine-Acylcarnitine Translocase Deficiency	Cact Deficiency Carnitine Acylcarnitine Translocase Deficiency CACTD Carnitine-Acylcarnitine Carrier Deficiency
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Scad Deficiency Acads Deficiency Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency Scadh Deficiency Short-Chain Acyl-Coa Dehydrogenase Deficiency Deficiency Of Butyryl-Coa Dehydrogenase Short Chain Acyl-Coa Dehydrogenase Deficiency ACADSD Scadd Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of Acyl-Coa Dehydrogenase Short-Chain Deficiency
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Mcad Deficiency Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency Acadm Deficiency Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of Medium Chain Acyl-Coa Dehydrogenase Deficiency ACADMD Mcadh Deficiency Mcadd Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Acyl-Coa Dehydrogenase Medium-Chain Deficiency Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Medium Chain Acyl Dehydrogenase Deficiency
Reye Syndrome	Reye'S Syndrome Rasmussen Encephalitis Fatty Liver With Encephalopathy Rasmussen'S Encephalitis Re Rs Rasmussen Syndrome Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome Reye Encephalopathy
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Methylcrotonylglycinuria Mcc Deficiency Methylcrotonyl-Coa Carboxylase Deficiency Bmcc Deficiency 3-Mcc Deficiency 3mcc Mccd 3mcc Deficiency Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 3-Mcc 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Deficiency Of Methylcrotonoyl-Coa Carboxylase 3-Methyl Crotonyl-Coa Carboxylase Deficiency 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Carnitine Palmitoyltransferase Ii Deficiency Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular Cpt Ii Deficiency, Hepatic Cpt2 Deficiency, Infantile Cpt Ii Deficiency, Infantile Cpt Ii Deficiency Carnitine Palmitoyltransferase 2 Deficiency Cpt2 Carnitine Palmitoyltransferase Deficiency Type 2 Carnitine Palmitoyl Transferase 2 Deficiency Cpt-Ii Infantile Carnitine Palmitoyltransferase Ii Deficiency Late-Onset Carnitine Palmitoyltransferase Ii Deficiency Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency Carnitine Palmitoyltransferase Ii Deficiency Cpt2 Deficiency Cptii Cpt2, Hepatocardiomuscular Form Cpt2, Severe Infantile Form Cptii, Hepatocardiomuscular Form Cptii, Severe Infantile Form Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form Carnitine Palmitoyltransferase 2 Deficiency, Infantile CPT2DI Cpt Deficiency, Hepatic, Type Ii Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Vlcad Deficiency Very Long Chain Acyl-Coa Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lcad Deficiency Very Long-Chain Acyl-Coa Dehydrogenase Deficiency Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVLD Acadl Deficiency Vlcadd Long-Chain Acyl-Coa Dehydrogenase Deficiency Acadvl Acyl-Coa Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Vlcad-C Vlcad-H Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of Acyl-Coa Dehydrogenase Very Long-Chain Deficiency Acyl-Coa Dehydrogenase Long-Chain Deficiency Deficiency, Very Long Chain Acyl-Coa Dehydrogenase Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Psoriatic Arthritis	Psoriatic Arthritis, Susceptibility To Psoriatic Arthropathy Arthropathic Psoriasis Arthritis, Psoriatic Arthritis Psoriatica PSORAS Arthritic Psoriasis Psoriasis Arthropathica Arthritis Psoriatic Arthritis, Psoriatic, Susceptibility To
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Carnitine Palmitoyltransferase I Deficiency	Carnitine Palmitoyl Transferase 1a Deficiency Cpt1a Deficiency Cpt I Deficiency Carnitine Palmitoyl Transferase Ia Deficiency Hepatic Carnitine Palmitoyl Transferase 1 Deficiency Hepatic Carnitine Palmitoyl Transferase I Deficiency L-Cpt1 Deficiency Carnitine Palmitoyltransferase 1a Deficiency Carnitine Palmitoyltransferase Ia Deficiency Cpt Deficiency, Hepatic, Type I Cpt Deficiency, Hepatic, Type Ia Hepatic Carnitine Palmitoyltransferase 1 Deficiency L-Cpti Deficiency Hepatic Cpt Deficiency Type I Hepatic Cpt1 L-Cpt 1 Deficiency Cpt 1a Deficiency Liver Form Of Carnitine Palmitoyltransferase Deficiency CPT1AD Cpt-I Deficiency
Glutaric Acidemia I	Glutaryl-Coa Dehydrogenase Deficiency GA1 Glutaric Acidemia Type 1 Glutaric Aciduria 1 Glutaric Aciduria Type 1 Glutaric Acidemia Type I Glutaric Aciduria, Type 1 Glutaric Aciduria I Ga I Glutaricaciduria, Type I Glutaryl-Coenzyme A Dehydrogenase Deficiency Glutaric Academia Type 1 Glutaric Aciduria Type I Ga-1 Gcdh Deficiency Ga 1 Glutaric Acidemia 1 Gcdhd Glutaric Aciduria, Type I Glutaricaciduria I Ga-I Glutaricaciduria, Type 1
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Inflammatory Bowel Disease 1	Inflammatory Bowel Disease 1 IBD1 Crohn Disease-Associated Growth Failure Crohn Disease Regional Enteritis Ulcerative Colitis Crohn Disease-Associated Growth Failure, Susceptibility To Inflammatory Bowel Disease 1, Crohn Disease Bowel Disease, Inflammatory, Type 1
Mitochondrial Trifunctional Protein Deficiency	Tfp Deficiency MTPD Trifunctional Protein Deficiency Trifunctional Protein Deficiency With Myopathy And Neuropathy Tfpd Familial Hypertrophic Cardiomyopathy Cardiomyopathy Familial Hypertrophic Familial Hcm Heritable Hypertrophic Cardiomyopathy Mtp Deficiency Tpa Deficiency Trifunctional Protein Deficiency, Type 2 Abetalipoproteinemia
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13077	SLC22A5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20645	Slc22a5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27155	Slc22a5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC22A5	VGNC	VGNC:77420
Canis familiaris	SLC22A5	VGNC	VGNC:46279
Rattus norvegicus	SLC22A5	RGD	RGD:3702
Mus musculus	SLC22A5	MGD	MGI:1329012
Bos taurus	SLC22A5	VGNC	VGNC:34730
Others	SLC22A5	NCBI