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    SLC22A6 solute carrier family 22 member 6 [ Homo sapiens (human) ]

    Gene ID: 9356, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC22A6provided by HGNC
    Official Full Name
    solute carrier family 22 member 6provided by HGNC
    Primary source
    HGNC:HGNC:10970
    See related
    Ensembl:ENSG00000197901 MIM:607582; AllianceGenome:HGNC:10970
    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
    OAT1; PAHT; HOAT1; ROAT1
    Summary
    The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward kidney (RPKM 150.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC22A6 in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62976597..62984967, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62965855..62974245, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62744069..62752439, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902683 Neighboring gene uncharacterized LOC105369333 Neighboring gene cholinergic receptor muscarinic 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62689159-62689693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4868 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62692895-62693660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62701569-62702077 Neighboring gene RNA, 7SL, cytoplasmic 259, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62751576-62752126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62765923-62766840 Neighboring gene solute carrier family 22 member 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62782318-62783172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62784863-62785362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62787753-62788334 Neighboring gene PTTG1 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Homocysteine and the renal epithelial transport and toxicity of inorganic mercury: role of basolateral transporter organic anion transporter 1. Zalups RK, et al. J Am Soc Nephrol, 2004 Aug. PMID 15284288
    2. Three ubiquitination sites of organic anion transporter-1 synergistically mediate protein kinase C-dependent endocytosis of the transporter. Li S, et al. Mol Pharmacol, 2013 Jul. PMID 23640180, Free PMC Article
    3. Human organic anion transporter OAT1 is not responsible for glutathione transport but mediates transport of glutamate derivatives. Hagos Y, et al. Am J Physiol Renal Physiol, 2013 Feb 15. PMID 23255614
    4. Putative transmembrane domain 12 of the human organic anion transporter hOAT1 determines transporter stability and maturation efficiency. Hong M, et al. J Pharmacol Exp Ther, 2010 Feb. PMID 19892921, Free PMC Article
    5. Organic anion transporter OAT1 undergoes constitutive and protein kinase C-regulated trafficking through a dynamin- and clathrin-dependent pathway. Zhang Q, et al. J Biol Chem, 2008 Nov 21. PMID 18818201, Free PMC Article

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The kidney drug transporter OAT1 regulates gut microbiome-dependent host metabolism.
      Title: The kidney drug transporter OAT1 regulates gut microbiome-dependent host metabolism.
    2. Drug transporters OAT1 and OAT3 have specific effects on multiple organs and gut microbiome as revealed by contextualized metabolic network reconstructions.
      Title: Drug transporters OAT1 and OAT3 have specific effects on multiple organs and gut microbiome as revealed by contextualized metabolic network reconstructions.
    3. Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort.
      Title: Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort.
    4. Genetic Diversity in Drug Transporters: Impact in African Populations.
      Title: Genetic Diversity in Drug Transporters: Impact in African Populations.
    5. Ubiquitin-specific peptidase 8 regulates the trafficking and stability of the human organic anion transporter 1.
      Title: Ubiquitin-specific peptidase 8 regulates the trafficking and stability of the human organic anion transporter 1.
    6. Estrogen receptor alpha (ERalpha) indirectly induces transcription of human renal organic anion transporter 1 (OAT1).
      Title: Estrogen receptor α (ERα) indirectly induces transcription of human renal organic anion transporter 1 (OAT1).
    7. Coadministration of vindesine with high-dose methotrexate therapy increases acute kidney injury via BCRP, MRP2, and OAT1/OAT3.
      Title: Coadministration of vindesine with high-dose methotrexate therapy increases acute kidney injury via BCRP, MRP2, and OAT1/OAT3.
    8. results indicate an increased alpha-ketoglutarate efflux by OAT1 and OAT3, resulting in a metabolic shift towards an oxidative phenotype
      Title: Organic anion transporters 1 and 3 influence cellular energy metabolism in renal proximal tubule cells.
    9. An OAT1 SNP might be clinically associated with Chronic kidney disease.
      Title: A novel SNP in the 5' regulatory region of organic anion transporter 1 is associated with chronic kidney disease.
    10. Endogenous metabolite-mediated communication between OAT1/OAT3 and OATP1B1 may explain the association between SLCO1B1 SNPs and methotrexate toxicity.
      Title: Endogenous Metabolites-Mediated Communication Between OAT1/OAT3 and OATP1B1 May Explain the Association Between SLCO1B1 SNPs and Methotrexate Toxicity.
    Submit: New GeneRIF Correction See all GeneRIFs (61)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ55736, MGC45260

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-ketoglutarate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chloride ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables organic anion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables organic anion transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables organic anion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables prostaglandin transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sodium-independent organic anion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sodium-independent organic anion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables solute:inorganic anion antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables xenobiotic transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in alpha-ketoglutarate transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inorganic anion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in metanephric proximal tubule development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic anion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in organic anion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in organic anion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in organic anion transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in prostaglandin transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in renal tubular secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in renal tubular secretion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sodium-independent organic anion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sodium-independent organic anion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in basal 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 caveola IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 22 member 6
    Names
    PAH transporter
    hPAHT
    hROAT1
    organic anion transporter 1
    para-aminohippurate transporter
    renal organic anion transporter 1
    solute carrier family 22 (organic anion transporter), member 6

    NCBI Reference Sequences (RefSeq)

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    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_004790.5 → NP_004781.2  solute carrier family 22 member 6 isoform a

      See identical proteins and their annotated locations for NP_004781.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also called hOAT1-1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB009697, AI017670, DA629600
      Consensus CDS
      CCDS31591.1
      UniProtKB/Swiss-Prot
      A8MY93, B2D0R6, O95187, O95742, Q4U2R8, Q7LDA0, Q8N192, Q9NQA6, Q9NQC2, Q9UBG6, Q9UEQ8
      UniProtKB/TrEMBL
      B3KRM3
      Related
      ENSP00000367102.3, ENST00000377871.7
      Conserved Domains (2) summary
      cd06174
      Location:135 → 505
      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:11 → 515
      2A0119; cation transport protein

    2. NM_153276.3 → NP_695008.1  solute carrier family 22 member 6 isoform b

      See identical proteins and their annotated locations for NP_695008.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also called OAT1-2) lacks an alternate in-frame segment compared to variant 1, resulting in a shorter isoform (b) compared to isoform a.
      Source sequence(s)
      BC033682
      Consensus CDS
      CCDS8041.1
      UniProtKB/TrEMBL
      B3KRM3
      Related
      ENSP00000353597.4, ENST00000360421.9
      Conserved Domains (1) summary
      TIGR00898
      Location:11 → 515
      2A0119; cation transport protein

    3. NM_153277.3 → NP_695009.1  solute carrier family 22 member 6 isoform c

      See identical proteins and their annotated locations for NP_695009.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also called OAT1-3) lacks two alternate in-frame segments compared to variant 1, resulting in a shorter isoform (c) compared to isoform a.
      Source sequence(s)
      AI017670, AJ251529, DA628191, DB320467
      Consensus CDS
      CCDS44632.1
      UniProtKB/TrEMBL
      B3KRM3
      Related
      ENSP00000396401.2, ENST00000458333.6
      Conserved Domains (2) summary
      cd06174
      Location:135 → 456
      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:11 → 471
      2A0119; cation transport protein

    4. NM_153278.3 → NP_695010.1  solute carrier family 22 member 6 isoform d

      See identical proteins and their annotated locations for NP_695010.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also called OAT1-4) lacks an alternate in-frame segment compared to variant 1, resulting in a shorter isoform (d) compared to isoform a.
      Source sequence(s)
      AB009697, AI017670, AJ271205, DA628191
      Consensus CDS
      CCDS44631.1
      UniProtKB/TrEMBL
      B3KRM3
      Related
      ENSP00000404441.2, ENST00000421062.2
      Conserved Domains (2) summary
      cd06174
      Location:135 → 456
      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:11 → 471
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      62976597..62984967 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018562.3 → XP_016874051.1  solute carrier family 22 member 6 isoform X1

      UniProtKB/TrEMBL
      B3KRM3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62965855..62974245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370531.1 → XP_054226506.1  solute carrier family 22 member 6 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153279.1: Suppressed sequence

      Description
      NM_153279.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4U2R8.1 GenPept UniProtKB/Swiss-Prot:Q4U2R8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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