SLC22A12

Solute carrier family 22 (organic anion/cation transporter), member 12, also known as SLC22A12 and URAT1, is a protein which in humans is encoded by the SLC22A12 gene.^[5][6]

SLC22A12
Identifiers
Aliases	SLC22A12, solute carrier family 22 (organic anion/urate transporter), member 12, OAT4L, RST, URAT1, solute carrier family 22 member 12
External IDs	OMIM: 607096; MGI: 1195269; HomoloGene: 56442; GeneCards: SLC22A12; OMA:SLC22A12 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.1 Start 64,590,641 bp[1] End 64,602,353 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 A Start 6,585,875 bp[2] End 6,593,062 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal cortex renal medulla mammary gland female breast human kidney lactiferous gland adipose tissue liver subcutaneous adipose tissue serous sac Top expressed in renal cortex human kidney right kidney proximal tubule outer renal medulla proximal convoluted tubule proximal straight tubule distal tubule primary visual cortex hypothalamus More reference expression data BioGPS n/a
Gene ontology Molecular function sodium-independent organic anion transmembrane transporter activity PDZ domain binding inorganic anion exchanger activity urate transmembrane transporter activity transmembrane transporter activity Cellular component integral component of plasma membrane extracellular exosome apical plasma membrane membrane plasma membrane integral component of membrane brush border membrane Biological process sodium-independent organic anion transport urate transport cellular homeostasis ion transport urate metabolic process transmembrane transport organic acid transmembrane transport inorganic anion transport transport organic anion transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 116085 20521 Ensembl ENSG00000197891 ENSMUSG00000061742 UniProt Q96S37 Q8CFZ5 RefSeq (mRNA) NM_001276326 NM_001276327 NM_144585 NM_153378 NM_009203 RefSeq (protein) NP_001263255 NP_001263256 NP_653186 NP_700357 NP_033229 Location (UCSC) Chr 11: 64.59 – 64.6 Mb Chr 19: 6.59 – 6.59 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The protein encoded by this gene is a urate transporter and urate-anion exchanger which regulates the level of urate in the blood. This protein is an integral membrane protein primarily found in kidney. Two transcript variants encoding different isoforms have been found for this gene.^[5]

Clinical significance

Numerous single nucleotide polymorphisms of this gene are significantly associated with altered (increased or decreased) reabsorption of uric acid by the kidneys.^[7][8] Respectively, these altered rates of reabsorption contribute to hyperuricemia and hypouricemia.

Interactions

SLC22A12 has been shown to have a protein-protein interaction with PDZK1.^[9]

Inhibition

Lesinurad, ruzinurad, darbinurad, verinurad, epaminurad, lingdolinurad, xininurad, puliginurad and dotinurad are urate transporter inhibitors that have been approved to treat gout.^[10][11] Lesinurad enhances urate excretion by inhibition the tubular re-absorption. Probenecid also facilitates uric acid secretion.^[12][13]

See also

• Solute carrier family