Mus musculus Gene: Slc12a1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-203493.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | Slc12a1 | ||||||||||||||||||
Gene Name | solute carrier family 12, member 1 | ||||||||||||||||||
Synonyms | AI788571; D630042G03Rik; mBSC1; Nkcc2; urehr3 | ||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||
Ensembl Gene | ENSMUSG00000027202 | ||||||||||||||||||
Encoded Proteins |
solute carrier family 12, member 1
solute carrier family 12, member 1
solute carrier family 12, member 1
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000074803:
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 2:125152505-125230002 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | F1 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 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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Orthologs | |||||||||||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathway Predictions based on Human Orthology Data | |||||||||||||||||||
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 | |||||||||||||||||||
TrEMBL | A2AQ50 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 20495 | ||||||||||||||||||
UniGene | Mm.3914 Mm.406567 | ||||||||||||||||||
RefSeq | NM_183354 NM_001079690 | ||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS50693 CCDS50694 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
MGI ID | MGI:103150 | ||||||||||||||||||
MGI Symbol | Slc12a1 | ||||||||||||||||||
EMBL | AL844547 AL929451 CH466519 | ||||||||||||||||||
GenPept | EDL28132 | ||||||||||||||||||
RNA Seq Atlas | 20495 | ||||||||||||||||||