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

    Gene ID: 6581, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC22A3 in Genome Data Viewer
    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_000006.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:160647818-160648746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160660268-160661163 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160661164-160662058 Neighboring gene solute carrier family 22 member 2 Neighboring gene uncharacterized LOC105378088 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:160694323-160695522 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:160719355-160719855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160720893-160721479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:160724446-160724946 Neighboring gene uncharacterized LOC124901453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:160807441-160807942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25402 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:160907332-160908531 Neighboring gene lipoprotein(a) like 2 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17759 Neighboring gene uncharacterized LOC124901454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17761 Neighboring gene lipoprotein(a)

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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)

    1. NM_021977.4NP_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:149518
      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:12528
      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

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      160348378..160452577
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      cd06174
      Location:18387
      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:13397
      2A0119; cation transport protein
    2. XM_047419262.1XP_047275218.1  solute carrier family 22 member 3 isoform X5

    3. XM_047419261.1XP_047275217.1  solute carrier family 22 member 3 isoform X3

    4. XM_005267107.4XP_005267164.1  solute carrier family 22 member 3 isoform X4

      Conserved Domains (2) summary
      cd06174
      Location:149289
      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:12327
      2A0119; cation transport protein
    5. XM_011536076.4XP_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:4366
      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:1376
      2A0119; cation transport protein
    6. XM_017011203.3XP_016866692.1  solute carrier family 22 member 3 isoform X2

      Conserved Domains (2) summary
      cd06174
      Location:4366
      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:1376
      2A0119; cation transport protein
    7. XM_011536075.3XP_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:4366
      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:1376
      2A0119; cation transport protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      161598508..161702771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356252.1XP_054212227.1  solute carrier family 22 member 3 isoform X1

    2. XM_054356257.1XP_054212232.1  solute carrier family 22 member 3 isoform X5

    3. XM_054356255.1XP_054212230.1  solute carrier family 22 member 3 isoform X3

    4. XM_054356256.1XP_054212231.1  solute carrier family 22 member 3 isoform X4

    5. XM_054356254.1XP_054212229.1  solute carrier family 22 member 3 isoform X2

    6. XM_054356253.1XP_054212228.1  solute carrier family 22 member 3 isoform X2