SLC22A12
| SLC22A12 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 11: 64.59 – 64.6 Mb | Chr 19: 6.59 – 6.59 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/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
Interactions
SLC22A12 has been shown to have a protein-protein interaction with PDZK1.[9]
Inhibition
Lesinurad,Ruzinurad 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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000197891 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000061742 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: SLC22A12 solute carrier family 22 (organic anion/cation transporter), member 12".
- S2CID 4417844.
- PMID 16385546.
- PMID 15634722.
- PMID 14531806.
- ^ "FDA approves Zurampic to treat high blood uric acid levels associated with gout". United States Food and Drug Administration. 22 December 2015.
- ^ "List of Approved Products" (PDF). Pharmaceuticals and Medical Devices Agency.
- PMID 2962517.
- PMID 18596212.
Further reading
- Hediger MA, Johnson RJ, Miyazaki H, Endou H (2005). "Molecular physiology of urate transport". Physiology. 20 (2): 125–33. PMID 15772301.
- 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 (2002). "Molecular identification of a renal urate anion exchanger that regulates blood urate levels". Nature. 417 (6887): 447–52. S2CID 4417844.
- Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (2004). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney Int. 64 (5): 1733–45. PMID 14531806.
- Ichida K, Hosoyamada M, Hisatome I, Enomoto A, Hikita M, Endou H, Hosoya T (2004). "Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion". J. Am. Soc. Nephrol. 15 (1): 164–73. PMID 14694169.
- Anzai N, Miyazaki H, Noshiro R, Khamdang S, Chairoungdua A, Shin HJ, Enomoto A, Sakamoto S, Hirata T, Tomita K, Kanai Y, Endou H (2004). "The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus". J. Biol. Chem. 279 (44): 45942–50. PMID 15304510.
- Iwai N, Mino Y, Hosoyamada M, Tago N, Kokubo Y, Endou H (2004). "A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese". Kidney Int. 66 (3): 935–44. PMID 15327384.
- Takahashi T, Tsuchida S, Oyamada T, Ohno T, Miyashita M, Saito S, Komatsu K, Takashina K, Takada G (2005). "Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese". Pediatr. Nephrol. 20 (5): 576–8. S2CID 12711324.
- Taniguchi A, Urano W, Yamanaka M, Yamanaka H, Hosoyamada M, Endou H, Kamatani N (2005). "A common mutation in an organic anion transporter gene, SLC22A12, is a suppressing factor for the development of gout". Arthritis Rheum. 52 (8): 2576–7. PMID 16059895.
- Shima Y, Teruya K, Ohta H (2006). "Association between intronic SNP in urate-anion exchanger gene, SLC22A12, and serum uric acid levels in Japanese". Life Sci. 79 (23): 2234–7. PMID 16920156.
- Ohtsuka Y, Zaitsu M, Ichida K, Isomura N, Tsuji K, Sato T, Hamasaki Y (2007). "Human uric acid transporter 1 gene analysis in familial renal hypo-uricemia associated with exercise-induced acute renal failure". S2CID 25818777.
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