| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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. SUBUNIT: Interacts with PDZK1. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Note=Detected in the luminal membrane of the epithelium of renal proximal tubules. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96S37-1; Sequence=Displayed; Name=2; IsoId=Q96S37-2; Sequence=VSP_028879; TISSUE SPECIFICITY: Detected in kidney (at protein level). Detected in fetal and adult kidney. Detected in epithelial cells of proximal tubules in renal cortex. DISEASE: 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. SIMILARITY: Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. SEQUENCE CAUTION: Sequence=BAB68364.1; Type=Frameshift; Positions=84, 136; GENE SYNONYMS:SLC22A12 OATL4 URAT1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 553 AA; 59630 MW; E3F29F38129BAD61 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:17989,
urn:biopax:RelationshipXref:NCBI GENE_116085,
urn:biopax:RelationshipXref:REFSEQ_NP_653186,
urn:biopax:RelationshipXref:REFSEQ_NP_700357,
urn:biopax:UnificationXref:UNIPROT_B7WPG1,
urn:biopax:UnificationXref:UNIPROT_Q19PF7,
urn:biopax:UnificationXref:UNIPROT_Q19PF8,
urn:biopax:UnificationXref:UNIPROT_Q19PF9,
urn:biopax:UnificationXref:UNIPROT_Q19PG0,
urn:biopax:UnificationXref:UNIPROT_Q6UXW3,
urn:biopax:UnificationXref:UNIPROT_Q96DT2,
urn:biopax:UnificationXref:UNIPROT_Q96S37
|
| biopax3:displayName |
S22AC_HUMAN
|
| biopax3:name |
Organic anion transporter 4-like protein,
RST,
Renal-specific transporter,
SLC22A12,
Urate anion exchanger 1
|
| biopax3:organism | |
| biopax3:sequence |
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAAACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLLMEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF
|
| biopax3:standardName |
Solute carrier family 22 member 12
|