Solute carrier family 12

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	== Structural highlights ==		== Structural highlights ==
-	This is a sample scene created with SAT to <scene name="/12/3456/Sample/1">color</scene> by Group, and another to make <scene name="/12/3456/Sample/2">a transparent representation</scene> of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes.	+	'''NKCC 2''' cotransports Na+, K+, Cl- in the molar ration of 1:1:2. The 3D structure of NKCC 2 complex with these ions show only K+ and one Cl- ion. K+ interacts with sidechain of Y383, 4 main chain carbonyl atoms and with Cl- ion <ref>PMID:36306558</ref>.
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	==3D structures of solute carrier family 12==		==3D structures of solute carrier family 12==

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Revision as of 09:08, 17 April 2024

spinqualitylabelsall models Dimer of human solute carrier family 12 member 2 complex with K+ (purple) and Cl- (green) ions (PDB code 7mxo) Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image Contents 1 Function 2 Disease 3 Structural highlights 4 3D structures of solute carrier family 12 Function The Solute carrier family 12 consists of 9 members which encode electroneutral cation-coupled chloride cotransporters. Solute carrier family 12 member 2 (NKCC 2) is a Na+/K+/Cl- cotransporter across membranes, involved in chloride transport, metal ion transport and positive regulation of cell volume. NKCCs play a vial role in the regulation of ionic balance. NKCCs utilize the existing Na+ and K+ gradients to move Cl- into or out of cells[1]. NKCC 4 mediates the couple movement of K+ and Cl- ions across the plasma membrane. Disease Mutations in NKCC 2 cause neurodevelopmental disorder non-syndromic hearing loss[2]. Mutations in NKCC 3 play pathogenic effects in Gitelman syndrome[3]. Polymorphism in NKCC 3 contribute to genetic susceptibility to diabetic nephropathy and essential hypertension[4]. Mutations in NKCC 6 are associated with severe sensorimotor neuropathy (ACCPN)[5]. Structural highlights NKCC 2 cotransports Na+, K+, Cl- in the molar ration of 1:1:2. The 3D structure of NKCC 2 complex with these ions show only K+ and one Cl- ion. K+ interacts with sidechain of Y383, 4 main chain carbonyl atoms and with Cl- ion [6]. 3D structures of solute carrier family 12 Solute carrier family 12 3D structures

References

1. ↑ . PMID:320819471
2. ↑ Li N, Gu HF. Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease. Front Genet. 2022 May 3;13:799224. PMID:35591852 doi:10.3389/fgene.2022.799224
3. ↑ . Correction to: SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. Brain. 2023 Apr 19;146(4):e26. PMID:36670515 doi:10.1093/brain/awad012
4. ↑ Kim JH, Shin HD, Park BL, Moon MK, Cho YM, Hwang YH, Oh KW, Kim SY, Lee HK, Ahn C, Park KS. SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy. Diabetes. 2006 Mar;55(3):843-8. PMID:16505253 doi:10.2337/diabetes.55.03.06.db05-1013
5. ↑ Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002 Nov;32(3):384-92. PMID:12368912 doi:10.1038/ng1002
6. ↑ Liang S, Zhou Z, Zhou Z, Liang J, Lin W, Zhang C, Zhou C, Zhao H, Meng X, Zou F, Yu C, Cai S. Blockade of CBX4-mediated β-catenin SUMOylation attenuates airway epithelial barrier dysfunction in asthma. Int Immunopharmacol. 2022 Dec;113(Pt A):109333. PMID:36306558 doi:10.1016/j.intimp.2022.109333