Solute Carrier Family 12 (Sodium/potassium/chloride Transporters), Member 1 Proteine (SLC12A1)

Human Solute Carrier Family 12 (Sodium/potassium/chloride Transporters), Member 1 (SLC12A1) Interaktionspartner

1. We replicated the methods in a previous study to detect rare and potentially loss-of-function variants in SLC12A3 (zeige SLC12A3 Proteine), SLC12A1, and KCNJ1 (zeige KCNJ1 Proteine) reducing blood pressure in variant carriers as compared with noncarriers using whole exome sequencing data. Our study confirmed that SLC12A3 (zeige SLC12A3 Proteine), SLC12A1, and KCNJ1 (zeige KCNJ1 Proteine) are indeed genes protective of hypertension in the general population.

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 (zeige CASR Proteine) at the level of the kidney, is reported.

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.

4. Low SLC12A1 urine levels were associated with Bartter syndrome.

5. Mutations in SLC12A1 gene is associated with Bartter syndrome.

6. Urinary NKCC2 increased in chronic kidney disease patients and decreased in controls in response to hypertonic saline.

7. The association between polymorphisms in KCNJ1 (zeige KCNJ1 Proteine), SLC12A1, and 7 other genes and calcium intake and colorectal neoplasia risk was studied.

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.

9. 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)

10. Data show that intracellular association between WNK1 (zeige WNK1 Proteine) and oxidative stress-responsive 1 (OSR1 (zeige OXSR1 Proteine)) is required for stimulation of OSR1 (zeige OXSR1 Proteine) and Na(+), K(+), Cl(-)-Cotransporter NKCC1 (zeige SLC12A2 Proteine) and NKCC2 activities by osmotic stress.

Cow (Bovine) Solute Carrier Family 12 (Sodium/potassium/chloride Transporters), Member 1 (SLC12A1) Interaktionspartner

1. SLC12A1 (g.62382825G>A, p.Pro372Leu) is a hypomorphic or loss-of-function mutation and the hydrallantois with this mutation shows incomplete penetrance in Japanese Black cattle.

Mouse (Murine) Solute Carrier Family 12 (Sodium/potassium/chloride Transporters), Member 1 (SLC12A1) Interaktionspartner

1. The differential regulation of ROMK (zeige KCNJ1 Proteine), large-conductance Ca(2 (zeige CA2 Proteine)+)-activated K(+) (BK) channel (zeige KCNMA1 Proteine), BK-alpha and NKCC2 between female and male mice, at least, were partly mediated via WNK1 (zeige WNK1 Proteine) pathway, which may contribute to the sexual dimorphism of plasma K(+) and blood pressure control.

2. VAMP3 (zeige VAMP3 Proteine) is required for normal NKCC2 expression, renal function, and blood pressure.

3. IL-1 (zeige IL1A Proteine) receptor (IL-1R1) deficiency or blockade limits blood pressure elevation in this model by mitigating sodium reabsorption via the NKCC2 co-transporter in the nephron.

4. Data suggest renal cell lines exhibit an OS9- (osteosarcoma amplified 9 protein-)mediated ERAD (endoplasmic reticulum-associated degradation) pathway that degrades Nkcc2/Slc12a1 prior to glycosylation/processing.

5. The findings demonstrated a substantial role of mitochondrial dysfunction in mediating the downregulation of NKCC2 and ENaCalpha in obstructive kidney disease, possibly via iNOS-derived nitric oxide and BNP.

6. our results suggest that NKCCs are involved in insulin (zeige INS Proteine) secretion and that a single Slc12a2 (zeige SLC12A2 Proteine) allele may protect beta-cells from failure due to increased homeostatic expression of Slc12a1.

7. Vasopressin (zeige AVP Proteine) plays an important role in the colonic epithelia by stimulating NKCC2 trafficking to the apical membrane and inducing NKCC2-mediated ion transport.

8. In this systemic analysis no clear primary effects of the Slc12a1I299F mutation appeared for the organs other than the kidneys where Slc12a1 expression has been described.

9. increased phosphorylation of Na(+)-K(+)-2Cl(-) cotransporter in obesity and identifies a new role for AMP-activated protein kinase in regulating the activity of oxidative stress responsive 1 kinase-related proline-alanine-rich protein kinase

10. Differential splicing of NKCC2 contributes to the adaptive capacity of the kidney to cope with changes in reabsorptive needs.