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    SLC22A11 solute carrier family 22 member 11 [ Homo sapiens (human) ]

    Gene ID: 55867, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC22A11provided by HGNC
    Official Full Name
    solute carrier family 22 member 11provided by HGNC
    Primary source
    HGNC:HGNC:18120
    See related
    Ensembl:ENSG00000168065 MIM:607097; AllianceGenome:HGNC:18120
    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
    OAT4; hOAT4
    Summary
    The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Expression
    Biased expression in placenta (RPKM 19.0) and kidney (RPKM 17.4) See more
    Orthologs
    all
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    Genomic context

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    See SLC22A11 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64555941..64572875)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64548682..64565616)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64323413..64340347)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64217054-64217249 Neighboring gene long intergenic non-protein coding RNA 2724 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64257463-64257964 Neighboring gene uncharacterized LOC124902690 Neighboring gene MPRA-validated peak1297 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64307456-64307994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64325867-64326380 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64327331-64327499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64332286-64333255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64338776-64339380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64350049-64350932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64350933-64351815 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64352037-64352222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64372269-64373070 Neighboring gene solute carrier family 22 member 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387298-64387914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387915-64388530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4905 Neighboring gene neurexin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64404690-64405258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414407-64414908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414909-64415408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64415526-64416494 Neighboring gene NRXN2 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Functional characterization of nonsynonymous single nucleotide polymorphisms in the human organic anion transporter 4 (hOAT4). Zhou F, et al. Br J Pharmacol, 2010 Jan 1. PMID 20015291, Free PMC Article
    2. Perfluoroalkyl substances (PFASs) are substrates of the renal human organic anion transporter 4 (OAT4). Louisse J, et al. Arch Toxicol, 2023 Mar. PMID 36436016, Free PMC Article
    3. Genetic variants of human organic anion transporter 4 demonstrate altered transport of endogenous substrates. Shima JE, et al. Am J Physiol Renal Physiol, 2010 Oct. PMID 20668102, Free PMC Article
    4. The role of glycine residues in the function of human organic anion transporter 4. Zhou F, et al. Mol Pharmacol, 2004 May. PMID 15102942
    5. Mutational analysis of histidine residues in human organic anion transporter 4 (hOAT4). Zhou F, et al. Biochem J, 2004 Nov 15. PMID 15291761, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout.
      Title: Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout.
    2. The regulation of human organic anion transporter 4 by insulin-like growth factor 1 and protein kinase B signaling.
      Title: The regulation of human organic anion transporter 4 by insulin-like growth factor 1 and protein kinase B signaling.
    3. Perfluoroalkyl substances (PFASs) are substrates of the renal human organic anion transporter 4 (OAT4).
      Title: Perfluoroalkyl substances (PFASs) are substrates of the renal human organic anion transporter 4 (OAT4).
    4. our study discovered 3 novel population-specific functional genetic variants (rs6913677, rs2078267, rs8100011) in 2 novel (SLC22A11 and ZNF45) and 1 earlier reported gene (BAI3) for BMI in Indians. Our study decodes key genomic loci underlying obesity phenotype in Indians that may serve as prospective drug targets in future
      Title: Multifaceted genome-wide study identifies novel regulatory loci in SLC22A11 and ZNF45 for body mass index in Indians.
    5. The first genome-wide association study for serum uric acid level in Indians revealed association of SLC2A9, SLC22A11 and ABCG2 gene variants at genome wide significance level in Type 2 diabetes patients.
      Title: Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes.
    6. modifies placental passage of perfluorinated alkyl acids, may decrease fetal exposure
      Title: Organic anion transporter 4 (OAT 4) modifies placental transfer of perfluorinated alkyl acids PFOS and PFOA in human placental ex vivo perfusion system.
    7. The regulation of hOAT4 activity was mediated by sgk2 acting through Nedd4-2.
      Title: Serum- and glucocorticoid-inducible kinase SGK2 regulates human organic anion transporters 4 via ubiquitin ligase Nedd4-2.
    8. SLC22A11 at the basal plasma membrane of human placental syncytiotrophoblasts plays a predominant role in the uptake of 16alpha-OH DHEAS for placental estriol synthesis.
      Title: Role of OAT4 in Uptake of Estriol Precursor 16α-Hydroxydehydroepiandrosterone Sulfate Into Human Placental Syncytiotrophoblasts From Fetus.
    9. A common variant of OAT4/SLC22A11 is associated with renal underexcretion type gout in Japanese men.
      Title: A common variant of organic anion transporter 4 (OAT4/SLC22A11) gene is associated with renal underexcretion type gout.
    10. Our analysis provides evidence for multiple ancestral-specific effects across the SLC22A11/SLC22A12 locus that presumably influence the activity of OAT4 and URAT1 and risk of gout.
      Title: Association analysis of the SLC22A11 (organic anion transporter 4) and SLC22A12 (urate transporter 1) urate transporter locus with gout in New Zealand case-control sample sets reveals multiple ancestral-specific effects.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    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
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
    EBI GWAS Catalog
    Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    • MGC34282

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables organic anion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sodium-independent organic anion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables solute:inorganic anion antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inorganic anion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion 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 prostaglandin transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in urate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basal plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  

    General protein information

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    Preferred Names
    solute carrier family 22 member 11
    Names
    organic anion transporter 4
    organic anion:dicarboxylate exchanger OAT4
    solute carrier family 22 (organic anion/cation transporter), member 11
    solute carrier family 22 (organic anion/urate transporter), member 11

    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_001307985.2 → NP_001294914.1  solute carrier family 22 member 11 isoform 2

      See identical proteins and their annotated locations for NP_001294914.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AA331094, AK129930, AP001092, BI051409, BX094958
      Consensus CDS
      CCDS76425.1
      UniProtKB/Swiss-Prot
      Q9NSA0
      Related
      ENSP00000366809.3, ENST00000377585.7
      Conserved Domains (2) summary
      cd06174
      Location:119 → 277
      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 → 351
      2A0119; cation transport protein

    2. NM_018484.4 → NP_060954.1  solute carrier family 22 member 11 isoform 1

      See identical proteins and their annotated locations for NP_060954.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA331094, AP001092, BC034384, BI051409, BX094958
      Consensus CDS
      CCDS8074.1
      UniProtKB/Swiss-Prot
      A8K426, Q53GR2, Q6ZP72, Q8NBU4, Q9NSA0
      UniProtKB/TrEMBL
      A6NCG2
      Related
      ENSP00000301891.4, ENST00000301891.9
      Conserved Domains (1) summary
      cl26863
      Location:11 → 523
      Sugar_tr; Sugar (and other) transporter

    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
      64555941..64572875
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545167.2 → XP_011543469.1  solute carrier family 22 member 11 isoform X1

      Conserved Domains (1) summary
      cd06174
      Location:33 → 378
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64548682..64565616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369353.1 → XP_054225328.1  solute carrier family 22 member 11 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NSA0.1 GenPept UniProtKB/Swiss-Prot:Q9NSA0

    Gene LinkOut

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

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