Recombinant Human Solute carrier family 12 member 1 (SLC12A1), partial

1. We replicated the methods in a previous study to detect rare and potentially loss-of-function variants in SLC12A3, SLC12A1, and KCNJ1 reducing blood pressure in variant carriers as compared with noncarriers using whole exome sequencing data. Our study confirmed that SLC12A3, SLC12A1, and KCNJ1 are indeed genes protective of hypertension in the general population. PMID: 30113482
2. an association between primary hyperparathyroidism and loss of function mutation of SLC12A1, which may result in an aberrant threshold of the calcium sensing receptor at the level of the kidney, is reported. PMID: 28095294
3. A novel variant in the SLC12A1 gene, c.1614T>A, which predicts a change from a tyrosine codon to a stop codon (p.Tyr538Ter) was found in two families with Bartter syndrome type I. PMID: 27748541
4. Low SLC12A1 urine levels were associated with Bartter syndrome. PMID: 25422309
5. Mutations in SLC12A1 gene is associated with Bartter syndrome. PMID: 25741940
6. Urinary NKCC2 increased in chronic kidney disease patients and decreased in controls in response to hypertonic saline. PMID: 24970686
7. The association between polymorphisms in KCNJ1, SLC12A1, and 7 other genes and calcium intake and colorectal neoplasia risk was studied. PMID: 25165391
8. overexpression of mammalian plasma-membrane Na+-K+-2Cl- co-transporter NKCC2 in yeast cells complements the phenotypes resulting from the deletion of the VHC1 gene. PMID: 24251329
9. Review summarizes three human disorders that have been linked to the mutation/dysfunction of Na-Cl, Na-K-2Cl, and K-Cl cotransporters (Bartter's, Gitleman's, and Andermann's syndromes). PMID: 23325410
10. NKCC2 mutations result in impaired apical targeting and function of NKCC2 transporter and give rise to a pathological phenotype known as type I Bartter syndrome. (Review) PMID: 22211456
11. Data show that intracellular association between WNK1 and oxidative stress-responsive 1 (OSR1) is required for stimulation of OSR1 and Na(+), K(+), Cl(-)-Cotransporter NKCC1 and NKCC2 activities by osmotic stress. PMID: 22989884
12. NKCC1 and NKCC2 were expressed in the gastric mucosa of rat, mouse and human. PMID: 22388656
13. The Wnk3 protein isoforms have a similar effect on SLC12 cotransporters. NKCC1/2 and NCC were inhibited, even in hypertonicity, while KCCs were activated, even in isotonic conditions. PMID: 21613606
14. two mutations in the SLC12A1 among patients suffering from bartter and Gitelman syndromes PMID: 21631963
15. NKCC2 is expressed widely in the colonic epithelium in thecolon, especially in the apical membrane. It involves the process of colonic Cl(-) absorption coupled with HCO(3)(-) secretion. PMID: 21867980
16. Data demonstrate that hypotonic low-chloride conditions that activate the WNK1-SPAK and OSR1 pathway promote phosphorylation of NKCC2 isoforms. PMID: 21321328
17. Investigated functional consequences of nine rare independed mutations in NKCC2 gene. defects in NKCC2 processing, transport turnover rate, regulation, and ion affinity contribute to impaired transport function in six of the nine identified mutants. PMID: 21209010
18. In schizophrenia, increased expression levels of OXSR1 and WNK3 may shift the balance of chloride transport by NKCC1 and KCC2 and alter the nature of gamma-aminobutyric acid neurotransmission in the prefrontal cortex. PMID: 20819979
19. SLC12A1 mutations are associated with Bartter syndrome. PMID: 20219833
20. he human NKCC2 is an example of how differential splicing forms the basis for a diversification of transporter protein function PMID: 20146722
21. Screened glioblastomas and oligodendrogliomas for fusion genes by identifying aberrant 5'-3' expression of genes that lie over regions of a copy number change. A fusion gene between exon 11 of LEO1 and exon 10 of SLC12A1 was identified. PMID: 20196086
22. Presence of a functional NKCC cotransporter in human airway smooth muscle. Basis for defining role of this ion cotransporter in airway smooth muscle function. PMID: 12471046
23. Mutations in hNKCC2 identified in type I Bartter syndrome, when expressed in Xenopus oocytes, result in low expression of normally routed but functionally impaired transporters. Mutations in hNKCC2 are underlying cause of clinical abnormalities. PMID: 12761241
24. Inhibitors for the Na+,K+-ATPase and the Na+-K+-2Cl- cotransporter indicated that rapid increases in in potassium levels upon incubation of resting RBCs PMID: 14528028
25. Review. Based on racial differences in urinary potassium excretion & responses to diuretics, we suggest that a major cause of sodium sensitivity in blacks is an augmented activity of the Na-K-2Cl cotransport in the thick ascending limb of Henle's loop. PMID: 14967834
26. Late-onset manifestation of Bartter syndrome resulted from residual function of the mutated renal SLC12A1. PMID: 16807401
27. odd-skipped related 1 and sterile20-related, proline-, alanine-rich kinase are likely links between WNK lysine deficient protein kinase 1 and NKCC in a pathway that contributes to volume regulation and blood pressure homeostasis in mammals PMID: 16832045
28. Four novel SLC12A1 mutations were found in two Bartter syndrome type 1 patients. PMID: 17998760
29. Members of the Framingham Heart Study were screened for variation in three genes-SLC12A3, SLC12A1 and KCNJ1 causing rare recessive diseases featuring large reductions in blood pressure. PMID: 18391953
30. phenotypic variability in this disease, and the presence of nephropathy suggested that focal segmental glomerulosclerosis might be one of the lesions causing end-stage renal failure in Bartter type I syndrome PMID: 18830715
31. Nephrocalcinosis was constant in KCNJ1 and SLC12A1 mutations. PMID: 19096086
32. Intronic mutation in the SLC12A1 gene is associated with antenatal salt-losing tubulopathy. PMID: 19513753

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HGNC: 10910

OMIM: 600839

KEGG: hsa:6557

STRING: 9606.ENSP00000370381

UniGene: Hs.123116