SLC22A12
Identifiers
AliasesSLC22A12, solute carrier family 22 (organic anion/urate transporter), member 12, OAT4L, RST, URAT1, solute carrier family 22 member 12
External IDsOMIM: 607096 MGI: 1195269 HomoloGene: 56442 GeneCards: SLC22A12
Orthologs
SpeciesHumanMouse
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 MbChr 19: 6.59 – 6.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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 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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000197891 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000061742 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: SLC22A12 solute carrier family 22 (organic anion/cation transporter), member 12".
  6. Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H (May 2002). "Molecular identification of a renal urate anion exchanger that regulates blood urate levels". Nature. 417 (6887): 447–52. Bibcode:2002Natur.417..447E. doi:10.1038/nature742. PMID 12024214. S2CID 4417844.
  7. Graessler J, Graessler A, Unger S, Kopprasch S, Tausche AK, Kuhlisch E, Schroeder HE (January 2006). "Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population". Arthritis Rheum. 54 (1): 292–300. doi:10.1002/art.21499. PMID 16385546.
  8. Wakida N, Tuyen DG, Adachi M, Miyoshi T, Nonoguchi H, Oka T, Ueda O, Tazawa M, Kurihara S, Yoneta Y, Shimada H, Oda T, Kikuchi Y, Matsuo H, Hosoyamada M, Endou H, Otagiri M, Tomita K, Kitamura K (April 2005). "Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia". J. Clin. Endocrinol. Metab. 90 (4): 2169–74. doi:10.1210/jc.2004-1111. PMID 15634722.
  9. Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (November 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney Int. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.
  10. "FDA approves Zurampic to treat high blood uric acid levels associated with gout". United States Food and Drug Administration. 22 December 2015.
  11. "List of Approved Products" (PDF). Pharmaceuticals and Medical Devices Agency.
  12. Hsyu PH, Gisclon LG, Hui AC, Giacomini KM (January 1988). "Interactions of organic anions with the organic cation transporter in renal BBMV". The American Journal of Physiology. 254 (1 Pt 2): F56–61. doi:10.1152/ajprenal.1988.254.1.F56. PMID 2962517.
  13. Silverman W, Locovei S, Dahl G (September 2008). "Probenecid, a gout remedy, inhibits pannexin 1 channels". American Journal of Physiology. Cell Physiology. 295 (3): C761–7. doi:10.1152/ajpcell.00227.2008. PMC 2544448. PMID 18596212.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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