InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Slc12a1

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

IDBP-203495

solute carrier family 12, member 1

IDBP-260153

solute carrier family 12, member 1

IDBP-260155

solute carrier family 12, member 1

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:125152505-125230002

Strand

Forward strand

Band

Transcripts

ENSMUST00000028630	ENSMUSP00000028630
ENSMUST00000110495	ENSMUSP00000106121
ENSMUST00000110494	ENSMUSP00000106120
ENSMUST00000147095

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0015377	cation:chloride symporter activity

Biological Process

GO:0001822	kidney development
GO:0006810	transport
GO:0006811	ion transport
GO:0007588	excretion
GO:0048878	chemical homeostasis
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000074803

View Gene Order

ENSBTAG00000010145

Not yet available

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

REACT_19315

Cation-coupled Chloride cotransporters pathway

REACT_19397

Transport of inorganic cations/anions and amino acids/oligopeptides pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_19118

SLC-mediated transmembrane transport pathway

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