Property Summary

NCBI Gene PubMed Count 75
Grant Count 18
R01 Count 16
Funding $2,328,899.46
PubMed Score 281.10
PubTator Score 187.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.340 0.000
medulloblastoma, large-cell 1.300 0.001
ovarian cancer 1.300 0.000

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
More...

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.
More...