SLC22A12
Protein name:
URAT1
Aliases:
RST, OAT4L
Substrates:
urate, organic anions
Transport type:
Exchanger / organic anions
Tissue and cellular expression:
kidney
Subcellular expression:
N/D
Disease:
renal hypo-uricemia, gout
Locus:
11q13.1
Sequence ID:
NP_653186.2,
NM_144585.2
Gene ID:
116085
Splice variants:
2 splice variants
S22AC_HUMAN (UniProt)
Gene names:
SLC22A12, OATL4, URAT1, UNQ6453/PRO34004
Protein names and data:
S22AC_HUMAN, Full=Solute carrier family 22 member 12, Full=Organic anion transporter 4-like protein;Full=Renal-specific transporter;Short=RST;Full=Urate anion exchanger 1;
Length: 553 a.a., Mass: 59630 Da,
fasta formatted sequence
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
Disease:
(OMIM:
220150 607096)
Defects in SLC22A12 are the cause of hypouricemia renal type 1 (RHUC1) [MIM:220150]. A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis
Cellular location:
Cell membrane; Multi-pass membrane protein. Note=Detected in the luminal membrane of the epithelium of renal proximal tubules
Tissue specificity:
Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex
Database cross-references
UniProt:
Q96S37
NextBio:
79751
OMIM:
220150
607096
Ensembl:
ENST00000377574
GeneCard:
GC11P064609
TCDB:
2.A.1.19.11
PharmGenUCSF:
SLC22A12
Guide to Pharmacology:
SLC22A12 (1031)
Urate transporter (1031)
HGNC:
HGNC:17989
Genetic variants
See also Ensembl:ENST00000377574
65 - 65
G -> W (in dbSNP:rs12800450). VAR_036720
12800450
90 - 90
R -> H (in RHUC1; strongly reduced urate transport). VAR_036721
92 - 92
R -> C. VAR_036722
138 - 138
V -> M (in RHUC1; strongly reduced urate transport). VAR_036723
164 - 164
G -> S (in RHUC1; reduced urate transport). VAR_036724
217 - 217
T -> M (in RHUC1; strongly reduced urate transport). VAR_036725
226 - 226
A -> V. VAR_036726
284 - 284
R -> G (in some gout patients; uncertain pathological significance). VAR_036727
290 - 290
G -> C (in some gout patients; uncertain pathological significance). VAR_036728
297 - 297
Q -> E (in some gout patients; uncertain pathological significance). VAR_036729
298 - 298
E -> D (in RHUC1; strongly reduced urate transport). VAR_036730
305 - 305
I -> S (in some gout patients; uncertain pathological significance). VAR_036731
312 - 312
Q -> L. VAR_036732
313 - 333
Missing (affects urate transport). VAR_036733
382 - 382
Q -> L (in RHUC1; strongly reduced urate transport). VAR_036734
418 - 418
L -> R (in RHUC1; strongly reduced urate transport). VAR_036735
430 - 430
M -> T (in RHUC1; reduced urate transport). VAR_036736
477 - 477
R -> H (in RHUC1). VAR_036737
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