Description: Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA. RefSeq Summary (NM_144585): The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. Transcript (Including UTRs) Position: hg19 chr11:64,358,282-64,366,395 Size: 8,114 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr11:64,359,029-64,366,393 Size: 7,365 Coding Exon Count: 5
Hung-Pin Tu , et al. Annals of the rheumatic diseases 2009 Sep, SLC22A12 Gene is Associated with Gout in Han Chinese and Solomon Islanders., Annals of the rheumatic diseases 2009 Sep.
[PubMed 19762362]
gout Vazquez-Mellado, J. et al. 2006, Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout, Rheumatology (Oxford) 2006.
[PubMed 16837472]
We found several mutations in SLC22A12 gene associated with primary gout, the definite role of these mutations in URAT1 activity needs to be further studied.
Gout Adrienne Tin et al. Human molecular genetics 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., Human molecular genetics.
[PubMed 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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 103473 - MFS general substrate transporter
ModBase Predicted Comparative 3D Structure on Q05CF4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
