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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
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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)

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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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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
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