Homo sapiens Gene: SLC12A1 | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Gene | IDBG-10865.6 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | SLC12A1 | ||||||||||||||||||||||||
Gene Name | solute carrier family 12 (sodium/potassium/chloride transporters), member 1 | ||||||||||||||||||||||||
Synonyms | BSC1; NKCC2 | ||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Gene | ENSG00000074803 | ||||||||||||||||||||||||
Encoded Proteins |
solute carrier family 12 (sodium/potassium/chloride transporters), member 1
solute carrier family 12 (sodium/potassium/chloride transporters), member 1
solute carrier family 12 (sodium/potassium/chloride transporters), member 1
solute carrier family 12 (sodium/potassium/chloride transporters), member 1
solute carrier family 12 (sodium/potassium/chloride transporters), member 1
solute carrier family 12 (sodium/potassium/chloride transporters), member 1
solute carrier family 12 (sodium/potassium/chloride transporters), member 1
solute carrier family 12 (sodium/potassium/chloride transporters), member 1
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Protein Structure | |||||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||
Summary |
This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010] This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle\'s loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010] |
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Gene Information | |||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||
Genomic Location | Chromosome 15:48191664-48304078 | ||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||
Band | q21.1 | ||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||
REACTOME |
Cation-coupled Chloride cotransporters pathway
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
Transmembrane transport of small molecules pathway
SLC-mediated transmembrane transport pathway
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KEGG | |||||||||||||||||||||||||
INOH | |||||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | Q13621 | ||||||||||||||||||||||||
TrEMBL | H0YLJ2 O76029 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 6557 | ||||||||||||||||||||||||
UniGene | Hs.123116 Hs.605373 | ||||||||||||||||||||||||
RefSeq | NM_000338 NM_001184832 XM_005254606 | ||||||||||||||||||||||||
HUGO | HGNC:10910 | ||||||||||||||||||||||||
OMIM | 600839 | ||||||||||||||||||||||||
CCDS | CCDS10129 CCDS53940 | ||||||||||||||||||||||||
HPRD | 02908 | ||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AB032525 AC023355 AC066612 AJ005332 EF559316 U58130 | ||||||||||||||||||||||||
GenPept | AAB07364 ABU69043 BAA84574 CAA06479 | ||||||||||||||||||||||||
RNA Seq Atlas | 6557 | ||||||||||||||||||||||||