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urate anion exchanger 1 (solute carrier family 22 member 12, renal-specific transporter, RST, organic anion transporter 4-like protein, SLC22A12, OATL4, URAT1, UNQ6453/PRO34004)
Function:
- required for efficient urate re-absorption in the kidney
- regulates blood urate levels
- mediates saturable urate uptake by facilitating the exchange of urate against organic anions
- interacts with PDZK1
Structure:
- belongs to the major facilitator superfamily, organic cation transporter family
Compartment:
- cell membrane
- detected in the luminal membrane of the epithelium of renal proximal tubules
Alternative splicing: named isoforms=2
Expression:
- detected in kidney (at protein level)
- detected in fetal & adult kidney
- detected in epithelial cells of proximal tubules in renal cortex
Pathology:
- defects in SLC22A12 are a cause of renal hypouricemia
Pharmacology:
- lesinurad (Zurampic) an inhibitor of URAT1 FDA-approved for treatment of gout in combination with xanthine oxidase inhibitor [2]
General
glycoprotein
major facilitator superfamily (MFS)
membrane protein
solute carrier family 22 (SLC22, SLC22A)
Properties
SIZE: entity length = 553 aa
MW = 60 kD
COMPARTMENT: cellular membrane
MOTIF: transmembrane domain {9-29}
N-glycosylation site {N56}
N-glycosylation site {N102}
transmembrane domain {146-166}
transmembrane domain {174-194}
transmembrane domain {195-215}
transmembrane domain {232-252}
transmembrane domain {260-280}
active site
MOTIF: adenine nucleotide-binding site
ATP-binding site
NAME: ATP-binding site
transmembrane domain {351-371}
transmembrane domain {378-398}
transmembrane domain {407-427}
transmembrane domain {435-455}
transmembrane domain {466-486}
transmembrane domain {495-515}
Database Correlations
OMIM correlations
UniProt Q96S37
Pfam PF07690
References
- UniProt :accession Q96S37
- FDA News Release. December 22, 2015
FDA approves Zurampic to treat high blood uric acid levels
associated with gout.
http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm478791.htm