InnateDB Protein
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IDBP-54121.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC22A12
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Protein Name
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solute carrier family 22 (organic anion/urate transporter), member 12
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000366795
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InnateDB Gene
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IDBG-54113 (SLC22A12)
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Protein Structure
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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. {ECO:0000269PubMed:12024214}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:12024214}; Multi-pass membrane protein {ECO:0000269PubMed:12024214}. Note=Detected in the luminal membrane of the epithelium of renal proximal tubules.
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Disease Associations |
Hypouricemia renal 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. {ECO:0000269PubMed:12024214, ECO:0000269PubMed:14694169, ECO:0000269PubMed:15327384, ECO:0000269PubMed:15634722, ECO:0000269PubMed:15912381, ECO:0000269PubMed:16837472}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex. {ECO:0000269PubMed:12024214, ECO:0000269PubMed:15304510}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR016196
Major facilitator superfamily domain, general substrate transporter
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96S37
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
116085
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UniGene |
Hs.742477
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RefSeq |
NP_001263256
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HUGO |
HGNC:17989
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OMIM |
607096
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CCDS |
CCDS60836
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HPRD |
06160
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IMGT |
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EMBL |
AB050269
AB071863
AC044790
AK315061
AP001092
AY358183
BC053348
CH471076
DQ514593
DQ514594
DQ514595
DQ514596
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GenPept |
AAH53348
AAK68156
AAQ88550
ABF74570
ABF74571
ABF74572
ABF74573
BAB68364
BAB96750
EAW74273
EAW74274
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