Homo sapiens Protein: SLC22A12 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-54115.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | SLC22A12 | ||||||||||||||||||
Protein Name | solute carrier family 22 (organic anion/urate transporter), member 12 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000366797 | ||||||||||||||||||
InnateDB Gene | IDBG-54113 (SLC22A12) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
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}. | ||||||||||||||||||
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. | ||||||||||||||||||
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. | ||||||||||||||||||
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}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR005828
General substrate transporter IPR011701 Major facilitator superfamily IPR016196 Major facilitator superfamily domain, general substrate transporter IPR020846 Major facilitator superfamily domain |
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PFAM |
PF00083
PF07690 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q96S37 | ||||||||||||||||||
PhosphoSite | PhosphoSite- | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 116085 | ||||||||||||||||||
UniGene | Hs.742477 | ||||||||||||||||||
RefSeq | NP_653186 | ||||||||||||||||||
HUGO | HGNC:17989 | ||||||||||||||||||
OMIM | 607096 | ||||||||||||||||||
CCDS | CCDS8075 | ||||||||||||||||||
HPRD | 06160 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB050269 AB071863 AC044790 AK315061 AP001092 AY358183 BC053348 CH471076 DQ514593 DQ514594 DQ514595 DQ514596 | ||||||||||||||||||
GenPept | AAH53348 AAK68156 AAQ88550 ABF74570 ABF74571 ABF74572 ABF74573 BAB68364 BAB96750 EAW74273 EAW74274 | ||||||||||||||||||