SLC22A4 - solute carrier family 22 member 4 Gene

Homo sapiens

Also known as OCTN1; DFNB60

Gene ID: 6583 | Gene type: protein coding

About SLC22A4

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,294,394-132,344,190 (from NCBI)

This gene has 3 transcripts (splice variants), 449 orthologues, 22 paralogues and is associated with 1 phenotype. Broad expression in bone marrow (RPKM 7.1), small intestine (RPKM 3.8) and 16 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 an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]

SLC22A4 Products(1)

mRNA	Protein	Name
NM_003059.3	NP_003050.2	solute carrier family 22 member 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	15523054	GOA
enables acetylcholine transmembrane transporter activity	IDA IDA: Inferred from direct assay	22569296	GOA
enables amino acid transmembrane transporter activity	IDA IDA: Inferred from direct assay	23567998	GOA
enables amino-acid betaine transmembrane transporter activity	IDA IDA: Inferred from direct assay	33124720	GOA
enables carnitine transmembrane transporter activity	IDA IDA: Inferred from direct assay	16729965	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	9426230	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in amino acid import across plasma membrane	IDA IDA: Inferred from direct assay	23567998	GOA
acts upstream of or within carnitine transport	IDA IDA: Inferred from direct assay	16729965	GOA
involved in quaternary ammonium group transport	IDA IDA: Inferred from direct assay	9426230	GOA
involved in xenobiotic transport	IDA IDA: Inferred from direct assay	23567998	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	18641280	GOA
located in basal plasma membrane	IDA IDA: Inferred from direct assay	35307651	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	16729965	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	16729965	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

SLC22A4 Protein Structure

Sugar_tr

0
100
200
300
400
500
551 a.a.

Protein Preferred Names

Protein Names

solute carrier family 22 member 4

ET transporter

Related Diseases

Diseases

Alias

Rheumatoid Arthritis

RA	Arthritis, Rheumatoid
Rheumatoid Arthritis, Susceptibility To	Arthritis Or Polyarthritis, Rheumatic
Atrophic Arthritis	Rheumatism Arthritis
Rheumatoid Polyarthritis

Hereditary Hearing Loss And Deafness

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Inflammatory Bowel Disease 5

IBD5

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

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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

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

Crohn'S Disease

Crohn Disease	Pediatric Crohn'S Disease
Regional Enteritis	Crohn'S Disease Of Large Bowel
Granulomatous Colitis	Enteritis, Granulomatous
Enteritis	Crohn'S Disease Of Colon
Colitis, Granulomatous	Crohn'S Enteritis
Enteritis, Regional	Ileitis
Adenoviral Enteritis	Acute Gastroenteropathy Due To Norwalk Agent
Viral Gastroenteritis Due To Norwalk Agent	Winter Vomiting
Epidemic Winter Vomiting Disease	Small Round Structured Virus Enteritis
Epidemic Vomiting Syndrome	Epidemic Vomiting
Epidemic Nausea	Epidemic Viral Gastroenteritis Due To Norwalk Virus
Noroviral Enteritis	Crohn Disease Nos
Crohns	Cd - [Crohn'S Disease]
Regional Enteritis Of Bowel	Crohn'S Regional Enteritis
Cobble-Stone Appearance Of Intestine	Intestinal Ulcer And Erosion Due To Crohn Disease
Granulomatous Enteritis

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

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B2246A	D-Carnitine hydrochloride		/	Unkown

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13076	SLC22A4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC22A4	VGNC	VGNC:51760
Rattus norvegicus	SLC22A4	RGD	RGD:621149
Mus musculus	SLC22A4	MGD	MGI:1353479
Bos taurus	SLC22A4	VGNC	VGNC:34729
Macaca mulatta	SLC22A4	VGNC	VGNC:77419

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