InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC22A12

Summary

InnateDB Protein

IDBP-54125.7

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

ENSP00000366790

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.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0015143	urate transmembrane transporter activity
GO:0030165	PDZ domain binding

Biological Process

GO:0015747	urate transport
GO:0015849	organic acid transport
GO:0019725	cellular homeostasis
GO:0042493	response to drug
GO:0046415	urate metabolic process
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0031526	brush border membrane
GO:0070062	extracellular vesicular exosome