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

Gene ID: 55867, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64555941..64572875)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64548682..64565616)
105.20220307 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

Expression

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  • 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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Related articles in PubMed

  1. 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
  2. Organic anion transporter 4 (OAT 4) modifies placental transfer of perfluorinated alkyl acids PFOS and PFOA in human placental ex vivo perfusion system. Kummu M, et al. Placenta, 2015 Oct. PMID 26303760
  3. Role of OAT4 in Uptake of Estriol Precursor 16α-Hydroxydehydroepiandrosterone Sulfate Into Human Placental Syncytiotrophoblasts From Fetus. Tomi M, et al. Endocrinology, 2015 Jul. PMID 25919187
  4. A common variant of organic anion transporter 4 (OAT4/SLC22A11) gene is associated with renal underexcretion type gout. Sakiyama M, et al. Drug Metab Pharmacokinet, 2014. PMID 24025986
  5. 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

See all (52) 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)

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

  • 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_2023_10

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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