Homo sapiens Gene: SLC12A1
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:48191664-48304078
Strand Forward strand
Band q21.1
Transcripts
ENST00000330289 ENSP00000331550
ENST00000380993 ENSP00000370381
ENST00000396577 ENSP00000379822
ENST00000561127 ENSP00000453602
ENST00000559641 ENSP00000453230
ENST00000558405 ENSP00000453409
ENST00000561031 ENSP00000454178
ENST00000558252
ENST00000560692
ENST00000559723
ENST00000558805 ENSP00000454054
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.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0008511 sodium:potassium:chloride symporter activity
GO:0015377 cation:chloride symporter activity
Biological Process
GO:0001822 kidney development
GO:0006810 transport
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0006814 sodium ion transport
GO:0006821 chloride transport
GO:0007588 excretion
GO:0008219 cell death
GO:0034220 ion transmembrane transport
GO:0048878 chemical homeostasis
GO:0055085 transmembrane transport
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Cation-coupled Chloride cotransporters pathway
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
SLC-mediated transmembrane transport pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q13621
TrEMBL H0YLJ2 H0YNW0 O76029 O76030 Q8IUN5
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
IMGT
EMBL AB032525 AB032527 AC023355 AC066612 AJ005332 AJ005333 BC040138 EF559316 U58130
GenPept AAB07364 AAH40138 ABU69043 BAA84574 BAA84576 CAA06479 CAA06480
RNA Seq Atlas 6557