Property Summary

NCBI Gene PubMed Count 75
PubMed Score 281.10
PubTator Score 187.69

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Hyperuricemia 35
Chronic gouty arthritis 4
Disease Target Count P-value
ovarian cancer 8491 1.4e-07
osteosarcoma 7933 3.5e-06
medulloblastoma, large-cell 6234 5.8e-04
Disease Target Count Z-score Confidence
Gout 93 6.264 3.1
Disease Target Count Z-score Confidence
Kidney disease 397 3.908 2.0
Neurotic disorder 9 3.176 1.6
Disease Target Count
Familial renal hypouricemia 2
Disease Target Count
Hypouricemia renal 1 1

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.340 3.5e-06
medulloblastoma, large-cell 1.300 5.8e-04
ovarian cancer 1.300 1.4e-07

Gene RIF (61)

PMID Text
26418379 not only loss-of-function mutation of URAT1 but also the dominant-negative effect cause RHUC through loss of UA absorption, partly due to protein misfolding caused by accumulation of URAT1 protein in the endoplasmic reticulum
26290326 Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males.
26086348 These results suggest that URAT1 rs3825016 and rs1529909 polymorphisms influence the uricosuric action of losartan
26033041 c.1245_1253del and c.1400C>T variants present in the Czech and Slovak Roma population at unexpectedly high frequencies
25739858 Depletion of UA due to SLC22A12/URAT1 loss-of-function mutations causes endothelial dysfunction in hypouricemia patients.
25275768 There was no significant mutation found in SLC22A12 and SLC2A9 in this familial aggregation of Chinese female premenopausal gout.
25268603 Genetic polymorphisms in the urate transporters SLC2A9, SLC22A12 and non-synonymous allelic variants of GLUT9 showed no evidence of the effect on hyperuricemia and gout in the Czech population.
24723238 protein expression of URAT1 and GLUT9 in renal tissues of patients with uric acid (UA) nephrolithiasis
24360580 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.
24107611 analysis of mutations in genes SLC22A12 and SLC2A9 urate transporter genes in patients with exercise-induced acute kidney injury
23981340 Our study suggests that the URAT1 rs559946 polymorphism is associated with increased hyperuricemia risk and may also contribute to gout development in Han Chinese men.
23544272 Report no association between serum uric acid and MTHFR C677T genotype, after the influences of ABCG2 Q126X and SLC22A12 W258X were removed.
23386035 The findings suggest that loss-of-function mutations in URAT1 cause renal hypouricemia via loss of uric acid absorption partly by protein misfolding.
23238572 The strongest association was detected at SLC22A12 rs505802 for genetic loci and uric acid (p=2.4x10(-50)).
23129426 Our study is the first one in Turkish population and suggests that there is no association between primary gout disease and SLC22A12 gene polymorphisms.
23043931 This report identifies a novel loss-of-function URAT1 mutations (c.151delG)which cause renal hypouricemia and renal dysfunction in two independent renal hypouricemia pedigrees.
22942308 Genetic analysis detected no mutations in the SLC22A12/URAT1 gene, except for the previously reported silent polymorphisms rs 3825016, 11231825, 1630320, 7932775, and the intronic polymorphism rs 79866595.
22688828 SLC22A12 polymorphisms are associated with obesity and metabolic syndrome in Caucasian hypertensive subjects.
22564045 present study confirmed the existence of OAT1-4 and URAT1 in the salivary gland
22194875 This data highlights the importance of the URAT1 renal urate transporter in determining serum urate concentrations and the clinical phenotypes.
21768215 we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele.
21722610 two cases with the URAT1 gene, encoded by SLC22A12, found a homozygous mutation in exon 4
21614936 SLC22A12 258WX was more common among those with a lower serum uric acid concentration; this allele is known to cause hypouricemia
21544634 The novel G109T polymorphism of the SLC22A12 gene is related to serum uric acid level, but not to the development of metabolic syndrome.
21366895 Although SLC22A12 W258X was a determining genetic factor on SUA, SUA of those with WX genotype distributed widely from 0.8 mg/dL to 7.8 mg/dL.
21350910 hURAT1 mediated a time- and dose-dependent uptake of orotate (K (m) 5.2 muM).
21211204 The SNP of 11G > A in the intron 3 of hURAT1 gene was apparently associated with hyperuricemia in Han Chinese.
21154327 polymorphisms of the SLC22A12 gene were associated with primary hyperuricemia
21148271 URAT1 mutations cause renal hypouricemia type 1.
20714133 replicated the associations of the SLC2A9 and ABCG2 polymorphisms with serum UA and clarified the prognostic significance of the SLC22A12, SLC2A9 and ABCG2 genotypes for the development of hyperuricemia
20714133 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20162743 Observational study of gene-disease association. (HuGE Navigator)
20162742 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19890391 Observational study of gene-disease association. (HuGE Navigator)
19833602 There are multiple genetic variants within or near hURAT1 that are associated with susceptibility to hyperuricaemia in Han Chinese, including a novel SNP located in intron 3.
19762362 Single nucleotide polymorphism rs475688 within SLC22A12 gene contributed to the development of gout under the hypothesis of common disease/common variant.
19762362 Observational study of gene-disease association. (HuGE Navigator)
19503597 Meta-analysis of gene-disease association. (HuGE Navigator)
19019168 Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.
19019168 Observational study of gene-disease association. (HuGE Navigator)
18936980 Serial changes in serum levels of reactive oxygen species and antioxidant potentials were demonstrated after exercise stress testing in a girl with idiopathic renal hypouricemia due to a mutation in SLC22A12.
18824160 polymorphism of the SLC22A12 gene may be involved in renal urate handling and the concentration of serum uric acid
18824160 Observational study of gene-disease association. (HuGE Navigator)
18701466 The in vivo role of GLUT9 is supported by the fact that a renal hypouricemia patient without any mutations in SLC22A12 was found to have a missense mutation in SLC2A9, which reduced urate transport activity in vitro.
18670416 losartan inhibited URAT1 and thereby it lowered Sur levels in hypertensive patients.
18492088 The G774A mutation in the SLC22A12 gene encoding URAT1 ( urate anion exchanger 1 ) predominates in Japanese renal hypouricemia.
18409511 is a urate anion exchanger regulating blood urate levels and proposed to be involved in the multimolecular complex "transportsome" that allows the cooperation of multiple transporters.
17891652 This study was undertaken to elucidate whether SLC22A12 gene mutations are responsible for low serum uric acid levels in Greek people. No previously reported mutation of URAT1 was associated with primary renal hypouricaemia in Greek subjects.
17891408 Functioning as an antiporter, hURAT1 mediates the uptake of urate from the lumen into proximal tubule cells in exchange for organic and inorganic anions.
17445045 Report of patients with heterozygous and homozygous mutations in the hURAT1 gene in a family with renal hypouricemia associated with exercise-induced acute renal failure.
16920156 Observational study of gene-disease association. (HuGE Navigator)
16920156 A single nucleotide polymorphism (SNP) in the urate transporter gene SLC22CA12 was found to be associated with elevated serum uric acid levels
16837472 Observational study of gene-disease association. (HuGE Navigator)
16385546 Observational study of gene-disease association. (HuGE Navigator)
16059895 G774A mutation in SCL22A12 gene serves as a suppressing factor for development of gout. Mutation decreased uric acid levels.
15772829 heterozygous mutations of the URAT1 gene (Q297X and IVS2+1G>A) may be recurrent mutations of the URAT1 gene in a Japanese population
15338274 Observational study of gene-disease association. (HuGE Navigator)
15327384 Observational study of gene-disease association. (HuGE Navigator)
15327384 SLC22A12 is a major gene for hypouricemia but not hyperuricemia in Japanese.
15304510 PDZK1 plays a role in regulating the functional activity of URAT1-mediated urate transport in the apical membrane of renal proximal tubules.
12024214 Molecular identification of a renal urate anion exchanger that regulates blood urate levels

AA Sequence

MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPE      1 - 70
ALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCD     71 - 140
SHALKPMAQSIYLAGILVGAAACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAV    141 - 210
AGVMMNTGTLLMEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLA    211 - 280
ESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRT    281 - 350
CISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCI    351 - 420
LANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLG    421 - 490
VHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF           491 - 553
//

Text Mined References (79)

PMID Year Title
26418379 2015 Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.
26290326 2015 Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study.
26086348 2015 URAT1 gene polymorphisms influence uricosuric action of losartan in hypertensive patients with hyperuricemia.
26033041 2015 High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.
25739858 2015 Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia.
25275768 2014 Familial aggregation of a Chinese female premenopausal gout: monogenic, polygenic, or clinical coincidence?
25268603 2014 Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout.
24723238 2014 Protein expression of urate transporters in renal tissue of patients with uric acid nephrolithiasis.
24360580 2013 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.
24107611 2013 Molecular background of urate transporter genes in patients with exercise-induced acute kidney injury.
23981340 2014 The hURAT1 rs559946 polymorphism and the incidence of gout in Han Chinese men.
23544272 2013 No association between MTHFR C677T and serum uric acid levels among Japanese with ABCG2 126QQ and SLC22A12 258WW.
23386035 2013 Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
23291366 2013 Functional cooperation of URAT1 (SLC22A12) and URATv1 (SLC2A9) in renal reabsorption of urate.
23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
23238572 2013 Genetic impact on uric acid concentration and hyperuricemia in the Japanese population.
23152669 2012 Potent human uric acid transporter 1 inhibitors: in vitro and in vivo metabolism and pharmacokinetic studies.
23148994 2013 Simple and rapid detection method for the mutations in SLC22A12 that cause hypouricemia by allele-specific real-time polymerase chain reaction.
23129426 2013 Absence of the SLC22A12 gene mutation in Turkish population with primary gout disease.
23043931 2013 Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia.
22971602 2013 Functional cooperation of SMCTs and URAT1 for renal reabsorption transport of urate.
22942308 2012 Absence of SLC22A12/URAT1 gene mutations in patients with primary gout.
22841915 2012 Drug transport by Organic Anion Transporters (OATs).
22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
22688828 2012 Urate transporter gene SLC22A12 polymorphisms associated with obesity and metabolic syndrome in Caucasians with hypertension.
22564045 2013 Immunohistochemical studies of organic anion transporters and urate transporter 1 expression in human salivary gland.
22194875 2011 Clinical and functional characterization of URAT1 variants.
22132991 2011 Apical voltage-driven urate efflux transporter NPT4 in renal proximal tubule.
22000646 2011 Urate transporters: an evolving field.
21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
21722610 2011 Two cases of nephrotic syndrome (NS)-induced acute kidney injury (AKI) associated with renal hypouricemia.
21614936 2011 SLC22A12 W258X frequency according to serum uric acid level among Japanese health checkup examinees.
21544634 2012 G109T polymorphism of SLC22A12 gene is associated with serum uric acid level, but not with metabolic syndrome.
21366895 2011 Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.
21350910 2011 Human urate transporter 1 (hURAT1) mediates the transport of orotate.
21211204 2010 [The association between single-nucleotide polymorphisms of hURAT1 and hyperuricemia in Han Chinese].
21154327 2010 [Association of the exon 8 and intron 8 polymorphisms of the human urate transporter 1 gene with primary hyperuricemia in Chinese Han population].
21148271 2011 URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.
20714133 2010 Association of four genetic loci with uric acid levels and reduced renal function: the J-SHIPP Suita study.
20162743 2010 Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series.
20162742 2010 Predictive value of 8 genetic loci for serum uric acid concentration.
20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.
19890391 2009 Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.
19833602 2010 Multiple single nucleotide polymorphisms in the human urate transporter 1 (hURAT1) gene are associated with hyperuricaemia in Han Chinese.
19762362 2010 The SLC22A12 gene is associated with gout in Han Chinese and Solomon Islanders.
19503597 2009 Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
19019168 2008 Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.
18936980 2009 Oxidative imbalance in idiopathic renal hypouricemia.
18824160 2008 T6092C polymorphism of SLC22A12 gene is associated with serum uric acid concentrations in Korean male subjects.
18701466 2008 Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans.
18670416 2008 Uricosuric action of losartan via the inhibition of urate transporter 1 (URAT 1) in hypertensive patients.
18492088 2008 Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.
18409511 2008 [Molecular mechanisms of urate transport in renal tubules: localization and function of urate transporters].
17891652 2007 Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia.
17891408 2007 [Molecular basis of primary renal hyperuricemia : role of the human urate transporter hURAT1].
17567994 2007 Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions.
17445045 2007 Human uric acid transporter 1 gene analysis in familial renal hypo-uricemia associated with exercise-induced acute renal failure.
16920156 2006 Association between intronic SNP in urate-anion exchanger gene, SLC22A12, and serum uric acid levels in Japanese.
16837472 2007 Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout.
16775029 2006 Human vascular smooth muscle cells express a urate transporter.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16385546 2006 Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16059895 2005 A common mutation in an organic anion transporter gene, SLC22A12, is a suppressing factor for the development of gout.
15912381 2005 Mutational analysis of idiopathic renal hypouricemia in Korea.
15772829 2005 Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese.
15772301 2005 Molecular physiology of urate transport.
15634722 2005 Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15338274 2004 Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
15327384 2004 A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.
15304510 2004 The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14694169 2004 Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.
14531806 2003 PDZK1: I. a major scaffolder in brush borders of proximal tubular cells.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12024214 2002 Molecular identification of a renal urate anion exchanger that regulates blood urate levels.