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Slc12a1 solute carrier family 12, member 1 [ Mus musculus (house mouse) ]

Gene ID: 20495, updated on 18-Sep-2024

Summary

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Official Symbol
Slc12a1provided by MGI
Official Full Name
solute carrier family 12, member 1provided by MGI
Primary source
MGI:MGI:103150
See related
Ensembl:ENSMUSG00000027202 AllianceGenome:MGI:103150
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Nkcc2; mBSC1; urehr3; D630042G03Rik
Summary
Enables sodium:potassium:chloride symporter activity. Acts upstream of or within several processes, including cellular hyperosmotic salinity response; excretion; and positive regulation of calcineurin-NFAT signaling cascade. Located in apical plasma membrane. Is expressed in several structures, including alimentary system and urinary system. Used to study Bartter disease type 1. Human ortholog(s) of this gene implicated in Bartter disease and Bartter disease type 1. Orthologous to human SLC12A1 (solute carrier family 12 member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward kidney adult (RPKM 70.5) See more
Orthologs
human all
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Genomic context

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See Slc12a1 in Genome Data Viewer
Location:
2 F1; 2 61.23 cM
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (124994430..125071922)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (125152510..125230002)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene myelin basic protein expression factor 2, repressor Neighboring gene predicted gene, 46759 Neighboring gene cortexin 2 Neighboring gene STARR-positive B cell enhancer mm9_chr2:125014961-125015261 Neighboring gene predicted gene, 46760 Neighboring gene predicted gene 14002 Neighboring gene STARR-seq mESC enhancer starr_05586 Neighboring gene STARR-positive B cell enhancer mm9_chr2:125073047-125073348 Neighboring gene STARR-seq mESC enhancer starr_05587 Neighboring gene deoxyuridine triphosphatase Neighboring gene STARR-seq mESC enhancer starr_05588 Neighboring gene fibrillin 1 Neighboring gene STARR-seq mESC enhancer starr_05589

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Impaired glucose tolerance, glucagon, and insulin responses in mice lacking the loop diuretic-sensitive Nkcc2a transporter. Kelly L, et al. Am J Physiol Cell Physiol, 2019 Oct 1. PMID 31365295, Free PMC Article
  2. Renal-Specific Silencing of TNF (Tumor Necrosis Factor) Unmasks Salt-Dependent Increases in Blood Pressure via an NKCC2A (Na(+)-K(+)-2Cl(-) Cotransporter Isoform A)-Dependent Mechanism. Hao S, et al. Hypertension, 2018 Jun. PMID 29735631, Free PMC Article
  3. Internalization of NKCC2 is impaired in thick ascending limb of Henle in moesin knockout mice. Kawaguchi K, et al. Pflugers Arch, 2018 Jul. PMID 29541861
  4. Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice. Kemter E, et al. J Biomed Sci, 2014 Aug 2. PMID 25084970, Free PMC Article
  5. Localization and vasopressin regulation of the Na⁺-K⁺-2Cl⁻ cotransporter in the distal colonic epithelium. Xue H, et al. World J Gastroenterol, 2014 Apr 28. PMID 24782621, Free PMC Article

See all (126) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dysregulation of the WNK4-SPAK/OSR1 pathway has a minor effect on baseline NKCC2 phosphorylation.
    Title: Dysregulation of the WNK4-SPAK/OSR1 pathway has a minor effect on baseline NKCC2 phosphorylation.
  2. Tubular-specific CDK12 knockout causes a defect in urine concentration due to premature cleavage of the slc12a1 gene.
    Title: Tubular-specific CDK12 knockout causes a defect in urine concentration due to premature cleavage of the slc12a1 gene.
  3. Renal NKCC2 Is Dual Regulated by the Synergy of 20-HETE and High-Fat Diet in CYP4F2 Transgenic Mice.
    Title: Renal NKCC2 Is Dual Regulated by the Synergy of 20-HETE and High-Fat Diet in CYP4F2 Transgenic Mice.
  4. Upregulation of renal Na-K-2Cl cotransporter 2 in obese diabetes mellitus via a vasopressin receptor 2-dependent pathway.
    Title: Upregulation of renal Na-K-2Cl cotransporter 2 in obese diabetes mellitus via a vasopressin receptor 2-dependent pathway.
  5. Collectively, these findings demonstrate that downregulation of renal TNF-alpha production in response to low-salt conditions contributes to the regulation of NaCl reabsorption via an NKCC2B-dependent mechanism.
    Title: Regulation of NKCC2B by TNF-α in response to salt restriction.
  6. that WNK4 increases the abundance of phosphorylated NKCC2
    Title: With no lysine kinase 4 modulates sodium potassium 2 chloride cotransporter activity in vivo.
  7. Moesin regulates the internalization of NKCC2.
    Title: Internalization of NKCC2 is impaired in thick ascending limb of Henle in moesin knockout mice.
  8. the decrease in urine volume and NaCl excretion induced by renal TNF silencing was abolished when NKCC2A was concurrently silenced, suggesting that this isoform contributes to the transition from a salt-resistant to salt-sensitive phenotype.
    Title: Renal-Specific Silencing of TNF (Tumor Necrosis Factor) Unmasks Salt-Dependent Increases in Blood Pressure via an NKCC2A (Na(+)-K(+)-2Cl(-) Cotransporter Isoform A)-Dependent Mechanism.
  9. The differential regulation of ROMK, large-conductance Ca(2+)-activated K(+) (BK) channel, BK-alpha and NKCC2 between female and male mice, at least, were partly mediated via WNK1 pathway, which may contribute to the sexual dimorphism of plasma K(+) and blood pressure control.
    Title: Involvement of WNK1-mediated potassium channels in the sexual dimorphism of blood pressure.
  10. VAMP3 is required for normal NKCC2 expression, renal function, and blood pressure.
    Title: Vesicle-associated Membrane Protein 3 (VAMP3) Mediates Constitutive Trafficking of the Renal Co-transporter NKCC2 in Thick Ascending Limbs: ROLE IN RENAL FUNCTION AND BLOOD PRESSURE.
Submit: New GeneRIF Correction See all GeneRIFs (39)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables chloride:monoatomic cation symporter activity IEA
Inferred from Electronic Annotation
more info
  
enables potassium ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sodium:potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sodium:potassium:chloride symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sodium:potassium:chloride symporter activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in cell volume homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell volume homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in chloride ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in chloride transport ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within kidney development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in monoatomic ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in potassium ion transport ISO
Inferred from Sequence Orthology
more info
  
involved_in protein insertion into membrane from inner side ISO
Inferred from Sequence Orthology
more info
  
involved_in sodium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transport ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within urea transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in cell surface ISO
Inferred from Sequence Orthology
more info
  
located_in extracellular exosome ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
solute carrier family 12 member 1
Names
BSC1
bumetanide-sensitive cotransporter type 1
bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
kidney-specific Na-K-Cl symporter

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001079690.2 → NP_001073158.2  solute carrier family 12 member 1 isoform F

    Status: VALIDATED

    Source sequence(s)
    AK052750, AL844547, AL929451, BY716143
    Consensus CDS
    CCDS50694.1
    UniProtKB/Swiss-Prot
    O35938, P55014, Q91W55, Q9Z1E0
    UniProtKB/TrEMBL
    A2AQ51
    Related
    ENSMUSP00000106121.3, ENSMUST00000110495.3
    Conserved Domains (1) summary
    TIGR00930
    Location:96 → 1090
    2a30; K-Cl cotransporter

  2. NM_183354.3 → NP_899197.3  solute carrier family 12 member 1 isoform A

    Status: VALIDATED

    Source sequence(s)
    AK052750, AL844547, AL929451, BY716143
    Consensus CDS
    CCDS50693.1
    UniProtKB/Swiss-Prot
    O35938, P55014, Q91W55, Q9Z1E0
    UniProtKB/TrEMBL
    A2AQ50
    Related
    ENSMUSP00000028630.3, ENSMUST00000028630.9
    Conserved Domains (1) summary
    TIGR00930
    Location:96 → 1090
    2a30; K-Cl cotransporter

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    124994430..125071922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030248885.1 → XP_030104745.1  solute carrier family 12 member 1 isoform X1

    UniProtKB/Swiss-Prot
    O35938, P55014, Q91W55, Q9Z1E0
    Conserved Domains (1) summary
    TIGR00930
    Location:96 → 1154
    2a30; K-Cl cotransporter

  2. XM_030248888.1 → XP_030104748.1  solute carrier family 12 member 1 isoform X3

    UniProtKB/Swiss-Prot
    O35938, P55014, Q91W55, Q9Z1E0
    Conserved Domains (1) summary
    TIGR00930
    Location:96 → 1122
    2a30; K-Cl cotransporter

  3. XM_030248890.1 → XP_030104750.1  solute carrier family 12 member 1 isoform X5

    UniProtKB/Swiss-Prot
    O35938, P55014, Q91W55, Q9Z1E0
    UniProtKB/TrEMBL
    A2AQ52
    Related
    ENSMUSP00000106120.3, ENSMUST00000110494.9
    Conserved Domains (1) summary
    TIGR00930
    Location:96 → 1090
    2a30; K-Cl cotransporter

  4. XM_030248887.1 → XP_030104747.1  solute carrier family 12 member 1 isoform X2

    UniProtKB/Swiss-Prot
    O35938, P55014, Q91W55, Q9Z1E0
    Conserved Domains (1) summary
    TIGR00930
    Location:96 → 1122
    2a30; K-Cl cotransporter

  5. XM_030248886.1 → XP_030104746.1  solute carrier family 12 member 1 isoform X1

    UniProtKB/Swiss-Prot
    O35938, P55014, Q91W55, Q9Z1E0
    Conserved Domains (1) summary
    TIGR00930
    Location:96 → 1154
    2a30; K-Cl cotransporter

  6. XM_030248891.1 → XP_030104751.1  solute carrier family 12 member 1 isoform X5

    UniProtKB/Swiss-Prot
    O35938, P55014, Q91W55, Q9Z1E0
    UniProtKB/TrEMBL
    A2AQ52
    Conserved Domains (1) summary
    TIGR00930
    Location:96 → 1090
    2a30; K-Cl cotransporter

  7. XM_030248892.1 → XP_030104752.1  solute carrier family 12 member 1 isoform X6

    UniProtKB/Swiss-Prot
    O35938, P55014, Q91W55, Q9Z1E0
    UniProtKB/TrEMBL
    A2AQ50
    Conserved Domains (1) summary
    TIGR00930
    Location:96 → 1090
    2a30; K-Cl cotransporter

  8. XM_030248889.1 → XP_030104749.1  solute carrier family 12 member 1 isoform X4

    UniProtKB/Swiss-Prot
    O35938, P55014, Q91W55, Q9Z1E0
    UniProtKB/TrEMBL
    A2AQ51
    Conserved Domains (1) summary
    TIGR00930
    Location:96 → 1090
    2a30; K-Cl cotransporter

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_011389.1: Suppressed sequence

    Description
    NM_011389.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P55014.2 GenPept UniProtKB/Swiss-Prot:P55014

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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