Human Gene SLC22A6 (uc001nwk.3)
  Description: Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.
RefSeq Summary (NM_004790): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:62,744,069-62,752,495 Size: 8,427 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr11:62,744,266-62,752,162 Size: 7,897 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:62,744,069-62,752,495)mRNA (may differ from genome)Protein (563 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S22A6_HUMAN
DESCRIPTION: RecName: Full=Solute carrier family 22 member 6; AltName: Full=Organic anion transporter 1; Short=hOAT1; AltName: Full=PAH transporter; Short=hPAHT; AltName: Full=Renal organic anion transporter 1; Short=hROAT1;
FUNCTION: Involved in the renal elimination of endogenous and exogenous organic anions. Functions as organic anion exchanger when the uptake of one molecule of organic anion is coupled with an efflux of one molecule of endogenous dicarboxylic acid (glutarate, ketoglutarate, etc). Mediates the sodium-independent uptake of 2,3-dimercapto-1-propanesulfonic acid (DMPS) (By similarity). Mediates the sodium-independent uptake of p- aminohippurate (PAH), ochratoxin (OTA), acyclovir (ACV), 3'-azido- 3-'deoxythymidine (AZT), cimetidine (CMD), 2,4-dichloro- phenoxyacetate (2,4-D), hippurate (HA), indoleacetate (IA), indoxyl sulfate (IS) and 3-carboxy-4-methyl-5-propyl-2- furanpropionate (CMPF), cidofovir, adefovir, 9-(2- phosphonylmethoxyethyl) guanine (PMEG), 9-(2- phosphonylmethoxyethyl) diaminopurine (PMEDAP) and edaravone sulfate. PAH uptake is inhibited by p- chloromercuribenzenesulphonate (PCMBS), diethyl pyrocarbonate (DEPC), sulindac, diclofenac, carprofen, glutarate and okadaic acid (By similarity). PAH uptake is inhibited by benzothiazolylcysteine (BTC), S-chlorotrifluoroethylcysteine (CTFC), cysteine S-conjugates S-dichlorovinylcysteine (DCVC), furosemide, steviol, phorbol 12-myristate 13-acetate (PMA), calcium ionophore A23187, benzylpenicillin, furosemide, indomethacin, bumetamide, losartan, probenecid, phenol red, urate, and alpha-ketoglutarate.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=9.3 uM for PAH (isoform 1); KM=4 uM for PAH (isoform 2); KM=11 uM for edaravone; KM=46 uM for cidofovir; KM=30 uM for adefovir; KM=5.77 uM for 2,4-D; KM=23.5 uM for HA; KM=14 uM for IA; KM=20.5 uM for IS; KM=141 uM for CMPF; Vmax=534 pmol/min/mg enzyme for 2,4-D uptake; Vmax=430 pmol/min/mg enzyme for HA uptake; Vmax=110 pmol/min/mg enzyme for IA uptake; Vmax=216 pmol/min/mg enzyme for IS uptake; Vmax=801 pmol/min/mg enzyme for CMPF uptake;
INTERACTION: Q92624:APPBP2; NbExp=3; IntAct=EBI-749741, EBI-743771;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Strongly expressed in kidney and to a lower extent in liver, skeletal muscle, brain and placenta. Found at the basolateral membrane of the proximal tubule.
DOMAIN: Multiple cysteine residues are necessary for proper targeting to the plasma membrane (By similarity).
PTM: Glycosylated. Glycosylation at Asn-113 may occur at a secondary level. Glycosylation is necessary for proper targeting of the transporter to the plasma membrane.
SIMILARITY: Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/slc22a6/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC22A6
CDC HuGE Published Literature: SLC22A6

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC22A6
Diseases sorted by gene-association score: n-acetylglutamate synthase deficiency (13)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.66 RPKM in Kidney - Cortex
Total median expression: 56.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -145.30333-0.436 Picture PostScript Text
3' UTR -63.40197-0.322 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020846 - MFS_dom
IPR016196 - MFS_dom_general_subst_transpt
IPR004749 - Orgcat_transp
IPR005828 - Sub_transporter

Pfam Domains:
PF00083 - Sugar (and other) transporter
PF07690 - Major Facilitator Superfamily

SCOP Domains:
103473 - MFS general substrate transporter

ModBase Predicted Comparative 3D Structure on Q4U2R8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005452 inorganic anion exchanger activity
GO:0005515 protein binding
GO:0008514 organic anion transmembrane transporter activity
GO:0015143 urate transmembrane transporter activity
GO:0015301 anion:anion antiporter activity
GO:0015347 sodium-independent organic anion transmembrane transporter activity
GO:0022857 transmembrane transporter activity
GO:0031404 chloride ion binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006820 anion transport
GO:0015698 inorganic anion transport
GO:0015711 organic anion transport
GO:0015742 alpha-ketoglutarate transport
GO:0015747 urate transport
GO:0031427 response to methotrexate
GO:0043252 sodium-independent organic anion transport
GO:0051260 protein homooligomerization
GO:0055085 transmembrane transport
GO:0097254 renal tubular secretion
GO:0098656 anion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005901 caveola
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0032991 macromolecular complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK298374 - Homo sapiens cDNA FLJ55736 complete cds, highly similar to Homo sapiens solute carrier family 22, member 6, transcript variant 2, mRNA.
BC033682 - Homo sapiens solute carrier family 22 (organic anion transporter), member 6, mRNA (cDNA clone MGC:45260 IMAGE:5190748), complete cds.
AB009698 - Homo sapiens mRNA for hOAT1-2, complete cds.
AK091879 - Homo sapiens cDNA FLJ34560 fis, clone KIDNE2001857, highly similar to Homo sapiens solute carrier family 22, member 6, transcript variant 2, mRNA.
AK055764 - Homo sapiens cDNA FLJ31202 fis, clone KIDNE2003188, highly similar to Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 5, mRNA.
AF057039 - Homo sapiens putative renal organic anion transporter 1 (hROAT1) mRNA, complete cds.
AF104038 - Homo sapiens para-aminohippurate transporter mRNA, complete cds.
AF124373 - Homo sapiens organic anion transporter 1 (SLC22A6) mRNA, complete cds.
AB009697 - Homo sapiens mRNA for hOAT1-1, complete cds.
JD038409 - Sequence 19433 from Patent EP1572962.
JD043749 - Sequence 24773 from Patent EP1572962.
JD097098 - Sequence 78122 from Patent EP1572962.
JD121255 - Sequence 102279 from Patent EP1572962.
AF097490 - Homo sapiens organic anion transporter 1 (OAT1) mRNA, complete cds.
AJ251529 - Homo sapiens mRNA for putative organic anion transporter (OAT1 gene, splice variant OAT1-3).
AJ271205 - Homo sapiens mRNA for putative organic anion transporter (OAT1-4 gene).
DQ895273 - Synthetic construct Homo sapiens clone IMAGE:100009733; FLH182966.01L; RZPDo839E03139D solute carrier family 22 (organic anion transporter), member 6 (SLC22A6) gene, encodes complete protein.
KJ892754 - Synthetic construct Homo sapiens clone ccsbBroadEn_02148 SLC22A6 gene, encodes complete protein.
KR710848 - Synthetic construct Homo sapiens clone CCSBHm_00017644 SLC22A6 (SLC22A6) mRNA, encodes complete protein.
DQ892080 - Synthetic construct clone IMAGE:100004710; FLH182970.01X; RZPDo839E03140D solute carrier family 22 (organic anion transporter), member 6 (SLC22A6) gene, encodes complete protein.
CU689694 - Synthetic construct Homo sapiens gateway clone IMAGE:100019841 5' read SLC22A6 mRNA.
JD060333 - Sequence 41357 from Patent EP1572962.
JD204744 - Sequence 185768 from Patent EP1572962.
JD438046 - Sequence 419070 from Patent EP1572962.
JD178056 - Sequence 159080 from Patent EP1572962.
JD304088 - Sequence 285112 from Patent EP1572962.
JD444479 - Sequence 425503 from Patent EP1572962.
JD377819 - Sequence 358843 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q4U2R8 (Reactome details) participates in the following event(s):

R-HSA-561041 OAT1-3 transport organic anions with antiport of dicarboxylic acids
R-HSA-561048 Organic anion transport
R-HSA-549132 Organic cation/anion/zwitterion transport
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A8MY93, B2D0R6, NM_004790, NP_004781, O95187, O95742, OAT1, PAHT, Q4U2R8, Q7LDA0, Q8N192, Q9NQA6, Q9NQC2, Q9UBG6, Q9UEQ8, S22A6_HUMAN
UCSC ID: uc001nwk.3
RefSeq Accession: NM_004790
Protein: Q4U2R8 (aka S22A6_HUMAN)
CCDS: CCDS8041.1, CCDS31591.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004790.4
exon count: 10CDS single in 3' UTR: no RNA size: 2248
ORF size: 1692CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3560.00frame shift in genome: no % Coverage: 98.84
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.