SLC22A3 solute carrier family 22 member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC22A3provided by HGNC
Official Full Name: solute carrier family 22 member 3provided by HGNC
Primary source: HGNC:HGNC:10967
See related: Ensembl:ENSG00000146477 MIM:604842; AllianceGenome:HGNC:10967
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EMT; EMTH; OCT3
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. [provided by RefSeq, Jul 2008]
Expression: Biased expression in liver (RPKM 29.4), prostate (RPKM 6.3) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (160348378..160452577)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (161598508..161702771)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (160769410..160873609)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Polynesian-specific SLC22A3 variant associates with low plasma lipoprotein(a) concentrations independent of apo(a) isoform size in males.
Title: A Polynesian-specific SLC22A3 variant associates with low plasma lipoprotein(a) concentrations independent of apo(a) isoform size in males.
Targeted mutagenesis of negatively charged amino acids outlining the substrate translocation path within the human organic cation transporter 3.
Title: Targeted mutagenesis of negatively charged amino acids outlining the substrate translocation path within the human organic cation transporter 3.
LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population.
Title: LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population.
Genetic preservation of SLC22A3 in the Admixed and Xhosa populations living in the Western Cape.
Title: Genetic preservation of SLC22A3 in the Admixed and Xhosa populations living in the Western Cape.
Repression of SLC22A3 by the AR-V7/YAP1/TAZ axis in enzalutamide-resistant castration-resistant prostate cancer.
Title: Repression of SLC22A3 by the AR-V7/YAP1/TAZ axis in enzalutamide-resistant castration-resistant prostate cancer.
HIST1H2BN induced cell proliferation and EMT phenotype in prostate cancer via NF-kappaB signal pathway.
Title: HIST1H2BN induced cell proliferation and EMT phenotype in prostate cancer via NF-κB signal pathway.
A Single Nucleotide Polymorphism (SNP) in the SLC22A3 Transporter Gene Is Associated With the Severity of Oral Mucositis in Multiple Myeloma Patients Receiving Autologous Stem Cell Transplant Followed by Melphalan Therapy.
Title: A Single Nucleotide Polymorphism (SNP) in the SLC22A3 Transporter Gene Is Associated With the Severity of Oral Mucositis in Multiple Myeloma Patients Receiving Autologous Stem Cell Transplant Followed by Melphalan Therapy.
LncRNA AL592284.1 facilitates proliferation and metastasis of cervical cancer cells via miR-30a-5p/Vimentin/EMT axis.
Title: LncRNA AL592284.1 facilitates proliferation and metastasis of cervical cancer cells via miR-30a-5p/Vimentin/EMT axis.
Serotonin homeostasis in the materno-foetal interface at term: Role of transporters (SERT/SLC6A4 and OCT3/SLC22A3) and monoamine oxidase A (MAO-A) in uptake and degradation of serotonin by human and rat term placenta.
Title: Serotonin homeostasis in the materno-foetal interface at term: Role of transporters (SERT/SLC6A4 and OCT3/SLC22A3) and monoamine oxidase A (MAO-A) in uptake and degradation of serotonin by human and rat term placenta.
Effect of Genetic Polymorphisms of Human SLC22A3 in the 5'-flanking Region on OCT3 Expression and Sebum Levels in Human Skin.
Title: Effect of Genetic Polymorphisms of Human SLC22A3 in the 5'-flanking Region on OCT3 Expression and Sebum Levels in Human Skin.

Submit: New GeneRIF Correction See all GeneRIFs (64)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic and clinical correlates of early-outgrowth colony-forming units. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in PLG, LPA and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants, plasma lipoprotein(a) levels, and risk of cardiovascular morbidity and mortality among two prospective cohorts of type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple newly identified loci associated with prostate cancer susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A007E40 (e-PCR)
- UniSTS:43831

RH123894 (e-PCR)
- UniSTS:136269

PLG_3841 (e-PCR)
- UniSTS:462421

D6S2067 (e-PCR)
- UniSTS:19074

NoName (e-PCR)
- UniSTS:480647

EMT_F1R1 (e-PCR)
- UniSTS:241039

EMT_F2R1 (e-PCR)
- UniSTS:241040

EMT_F2R2 (e-PCR)
- UniSTS:241041

RH1524 (e-PCR)
- UniSTS:24737

NoName (e-PCR)
- UniSTS:486829

SHGC-145768 (e-PCR)
- UniSTS:174780

RH121066 (e-PCR)
- UniSTS:132287

SHGC-149174 (e-PCR)
- UniSTS:176844

SHGC-149175 (e-PCR)
- UniSTS:176845

SLC22A3_408 (e-PCR)
- UniSTS:277732

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables monoamine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables monoamine transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables neurotransmitter transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables neurotransmitter transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables organic anion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables organic cation transmembrane transporter activity	EXP Inferred from Experiment more info	PubMed
enables organic cation transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables organic cation transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables organic cation transmembrane transporter activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables quaternary ammonium group transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables spermidine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables toxin transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular detoxification	IDA Inferred from Direct Assay more info	PubMed
involved_in dopamine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in dopamine uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in epinephrine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in epinephrine uptake	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of histamine metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in histamine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in histamine uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in histamine uptake	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoamine transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monocarboxylic acid transport	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter transport	IDA Inferred from Direct Assay more info	PubMed
involved_in norepinephrine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in norepinephrine uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in organic anion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in organic cation transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within organic cation transport	IDA Inferred from Direct Assay more info	PubMed
involved_in organic cation transport	IDA Inferred from Direct Assay more info	PubMed
involved_in purine-containing compound transmembrane transport	TAS Traceable Author Statement more info
acts_upstream_of_or_within quaternary ammonium group transport	IDA Inferred from Direct Assay more info	PubMed
involved_in quaternary ammonium group transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of appetite	IEA Inferred from Electronic Annotation more info
involved_in serotonin transport	IDA Inferred from Direct Assay more info	PubMed
involved_in serotonin uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in spermidine transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in spermidine transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in xenobiotic transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endomembrane system	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nuclear outer membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: solute carrier family 22 member 3

Names: EMT organic cation transporter 3; extraneuronal monoamine transporter; organic cation transporter 3; solute carrier family 22 (extraneuronal monoamine transporter), member 3; solute carrier family 22 (organic cation transporter), member 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_021977.4 → NP_068812.1 solute carrier family 22 member 3

See identical proteins and their annotated locations for NP_068812.1

Status: REVIEWED

Source sequence(s)

AF078749, AK314590

Consensus CDS

CCDS5277.1

UniProtKB/Swiss-Prot

O75751, Q5SYN6, Q9UP02

UniProtKB/TrEMBL

Q96KH7

Related

ENSP00000275300.2, ENST00000275300.3

Conserved Domains (2) summary

cd06174
Location:149 → 518

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00898
Location:12 → 528

2A0119; cation transport protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

160348378..160452577

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005267106.6 → XP_005267163.1 solute carrier family 22 member 3 isoform X1

Conserved Domains (2) summary

cd06174
Location:18 → 387

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00898
Location:13 → 397

2A0119; cation transport protein
XM_047419262.1 → XP_047275218.1 solute carrier family 22 member 3 isoform X5
XM_047419261.1 → XP_047275217.1 solute carrier family 22 member 3 isoform X3
XM_005267107.4 → XP_005267164.1 solute carrier family 22 member 3 isoform X4

Conserved Domains (2) summary

cd06174
Location:149 → 289

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00898
Location:12 → 327

2A0119; cation transport protein
XM_011536076.4 → XP_011534378.1 solute carrier family 22 member 3 isoform X2

See identical proteins and their annotated locations for XP_011534378.1

Conserved Domains (2) summary

cd06174
Location:4 → 366

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00898
Location:1 → 376

2A0119; cation transport protein
XM_017011203.3 → XP_016866692.1 solute carrier family 22 member 3 isoform X2

Conserved Domains (2) summary

cd06174
Location:4 → 366

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00898
Location:1 → 376

2A0119; cation transport protein
XM_011536075.3 → XP_011534377.1 solute carrier family 22 member 3 isoform X2

See identical proteins and their annotated locations for XP_011534377.1

Conserved Domains (2) summary

cd06174
Location:4 → 366

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00898
Location:1 → 376

2A0119; cation transport protein