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Slc12a1
Gene Detail
Symbol

Name
ID
Slc12a1
solute carrier family 12, member 1
MGI:103150
Synonyms
D630042G03Rik, mBSC1, Nkcc2, urehr3
Feature Type
protein coding gene
Genetic Map
Chromosome 2
61.23 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr2:125152505-125230002 bp, + strand
From VEGA annotation of GRCm38

  77498 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:286  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

HCOP human homology predictions: SLC12A1
Gene Tree: Slc12a1

Human
homologs
SLC12A1, solute carrier family 12 (sodium/potassium/chloride transporter), member 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6557
neXtProt AC: NX_Q13621

Human Synonyms: BSC1, NKCC2

Human Chr (Location): 15q15-q21.1; chr15:48206301-48304078 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SLC12A1

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Chemically induced (ENU)(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations.
 
Human Diseases Modeled in Mice Using Slc12a1 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Slc12a1 interacts with 231 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (36 annotations)
Process cation transmembrane transport, cellular hyperosmotic salinity response, ...
Component apical plasma membrane, cell surface, ...
Function cation:chloride symporter activity, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (24 records)
Data Summary: Results (237)    Tissues (195)    Images (11)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 6
RNA in situ 215
Western blot 16
cDNA source data(110)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase slc12a1 ; ZFIN slc12a1    NEW 
Molecular
reagents
All nucleic(115) Genomic(2) cDNA(110) Primer pair(3)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000015338 (Evidence)
Ensembl Gene Model ENSMUSG00000027202 (Evidence)
Entrez Gene 20495 (Evidence)
UniGene 3914
DFCI TC1592334, TC1577547, TC1675594, TC1596885, TC1650143, TC1614493
DoTS DT.101380168, DT.94131959, DT.60118458, DT.101380169, DT.55282684, DT.489931
NIA Mouse Gene Index U002406
Consensus CDS Project CCDS50693.1, CCDS50694.1
International Mouse Phenotyping Consortium Status Slc12a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015338 VEGA Gene Model | MGI Sequence Detail 77498 C57BL/6J ±  kb
transcript OTTMUST00000036347 VEGA | MGI Sequence Detail 4740 Not Applicable 
polypeptide OTTMUSP00000016333 VEGA | MGI Sequence Detail 1090 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(5) UniProt(4)
Polymorphisms
All PCR and RFLP(3) : PCR(2) RFLP(1) SNPs within 2kb(399 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004841 Amino acid permease domain
InterPro IPR013612 Amino acid permease, N-terminal
InterPro IPR002443 Na/K/Cl co-transporter
InterPro IPR002445 Na/K/Cl co-transporter 2
InterPro IPR004842 Na/K/Cl co-transporter superfamily
Protein Ontology PR:000014924 solute carrier family 12 member 1
References
(Earliest) J:19338 Gamba G, et al., Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. J Biol Chem. 1994 Jul 1;269(26):17713-22
(Latest) J:204689 Park HJ, et al., Regulation of NKCC2 activity by inhibitory SPAK isoforms: KS-SPAK is a more potent inhibitor than SPAK2. Am J Physiol Renal Physiol. 2013 Dec 15;305(12):F1687-96
All references(78)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-24016, MGI:2139049, MGI:2444968, MGI:3712273

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory