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  4. Recombinant Human Solute carrier family 12 member 3 (SLC12A3), partial

Recombinant Human Solute carrier family 12 member 3 (SLC12A3), partial

  • 中文名稱：
    人SLC12A3重組蛋白
  • 貨號：
    CSB-YP021384HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SLC12A3重組蛋白
  • 貨號：
    CSB-EP021384HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SLC12A3重組蛋白
  • 貨號：
    CSB-EP021384HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人SLC12A3重組蛋白
  • 貨號：
    CSB-BP021384HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SLC12A3重組蛋白
  • 貨號：
    CSB-MP021384HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    SLC12A3
  • Uniprot No.：
  • 別名：
    FLJ96318; Na Cl cotransporter; Na Cl symporter; Na-Cl symporter; NaCl electroneutral thiazide sensitive cotransporter; NCC; NCCT; S12A3_HUMAN; slc12a3; Solute carrier family 12 (sodium/chloride transporters) member 3; Solute carrier family 12 member 3; Thiazide sensitive Na Cl cotransporter; Thiazide sensitive sodium chloride cotransporter; Thiazide-sensitive sodium-chloride cotransporter; TSC
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評價

靶點詳情

  • 功能：
    Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption. Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1.
  • 基因功能參考文獻：
    1. This is the first report of two novel pathogenic variants of SLC12A3 and their contribution to Gitelman syndrome. PMID: 29378538
    2. the results demonstrated a close relationship between SLC12A3 polymorphisms and LDL-C level. PMID: 29661184
    3. The SLC12A3-Arg913Gln variation may be associated with increased blood pressure and UAER and, therefore, could be used to predict the development and progression of end-stage renal disease in Chinese T2DM patients undergoing hemodialysis. PMID: 28744814
    4. The mutations of both Gitelman syndrome pedigrees can be defined as compound heterozygous mutations in SLC12A3, most of which are known as missense mutations. PMID: 26825084
    5. Allelic and genotypic frequencies of single nucleotide polymorphism rs11643718 of solute carrier family 12 (sodium-chloride transporters), member 3 protein (SLC12A3) gene are associated with the onset of disease hypertension. PMID: 29419876
    6. A new recessive mutation in KLHL3 (S553L) was identified in familial hyperkalemia and hypertension. Increased urinary NCC was found in affected members (heterozygous) with dominant KLHL3 Q309R, and in affected members (homozygous) of the recessive form. PMID: 28511177
    7. Case Report: SLC12A3 gene heterozygous mutation causing Gitelman syndrome in a primary Sjogren syndrome patient. PMID: 28685938
    8. These findings have implications in providing appropriate genetic counseling to the family with regard to the risk associated with inbreeding, the detection of carrier/presymptomatic relatives. It further expands the known spectrum of genotypic and phenotypic characteristics of Gitelman syndrome. PMID: 28446151
    9. 2 novel heterozygous mutations: c.35_36insA and c.1095+5G>A were found in transcript NM_000339.2 in SLC12A3 gene were found in a patient with Gitelman syndrome. The first mutation was also found in patient's motherand the second in father. Only one of the two mutations iden-tified in our patient c.35 36insA was found in his sister. PMID: 26306968
    10. Sixteen novel SLC12A3 pathogenic mutations were identified in a cohort of Chinese patients with Gitelman syndrome. PMID: 27454426
    11. two novel mutations, a S546G substitution in exon 13, and insertion of AGCCCC at c.1930 in exon 16, were found to cause Gitelman syndrome in a South African family. PMID: 28125972
    12. Report novel SLC12A3 mutations in Chinese patients with Gitelman syndrome. PMID: 27216017
    13. we identified a novel SLC12A3 mutation in a Chinese GS pedigree, leading to the substitution of leucine by proline at codon 700 of the NCCT transporter. The proband and his elder sister had a homozygous mutation, while his mother and daughter carried one mutated allele. Because only the proband suffered from bilateral lower limb weakness, we inferred that the same genotype manifests as diverse phenotypes. PMID: 27783806
    14. MDCKI cells can be used to assess the activity, cellular localization, and abundance of wild-type or mutant NCC. PMID: 28515174
    15. In wild-type, total (tNCC) and phosphorylated (pNCC) NCC protein expressions were 1.8- and 4.6-fold higher in females compared with males, consistent with the larger response to HCTZ. In AT1a receptor knockout mice, tNCC and pNCC increased significantly in males to levels not different from those in females. PMID: 28566500
    16. NCC1/2, NCC1-3, and pNCC1-3-T55/T60 are upregulated by hydrochlorothiazide, and the increase in NCC abundance in urinary extracellular vesicles of essential hypertensive patients correlates with the blood pressure response to hydrochlorothiazide. PMID: 28274929
    17. Data show that WNK lysine deficient protein kinase 3 protein (WNK3) interacts with NCC and increases the Na-Cl cotransporter (NCC) expression on the cell membrane and in cytoplasm together. PMID: 27378340
    18. variants of the SLC12A3 gene confer susceptibility to the abnormal serum LDL-c level in the Mongolian population. PMID: 28166833
    19. A significant association of the SLC12A3 rs11643718 and ELMO1 rs741301 (Single nucleotide Polymorphism) SNPs with diabetic nephropathy in south Indians. PMID: 27699784
    20. This paper identified a novel SLC12A3 allele in Gitelman syndrome that activates a cryptic exon flanked by interspersed repeats deep in intron 12. PMID: 27784896
    21. SLC12A3 gene homozygous mutation is associated with Gitelman syndrome. PMID: 26260218
    22. SNPs in the SLC12A3 gene confer susceptibility to hypertension in the Mongolian population. PMID: 26751802
    23. Compared with patients with 1 mutant SLC12A3 allele, patients with 2 mutant SLC12A3 alleles had more severe hypomagnesemia, but did not have more severe hypokalemia. PMID: 26770037
    24. the results of this study support that the SLC12A3 gene is a susceptibility gene for hypertension in the Mongolian population. PMID: 26345939
    25. Suggest NCC1/2 is a fully functional thiazide-sensitive NaCl-transporting protein in the kidney. PMID: 26561651
    26. Low SLC12A3 urine levels were associated with Gitelman syndrome. PMID: 25422309
    27. association between thiazide-sensitive Na(+)-Cl(-) cotransporter mutants and human hypertension as well as Gitelman's syndrome (review). PMID: 25841442
    28. Data from two families in China suggest two homozygous mutations in SLC12A3 (Arg928Cys or Ser710X) can be associated with Gitelman syndrome; members of two families exhibit additional mutations and heterogenicity of clinical phenotype. [CASE STUDY] PMID: 25273610
    29. SLC12A3 Arg913Gln polymorphism was associated with Type 2 diabetes and diabetic nephropathy in the Malaysian cohort. The meta-analysis confirmed the protective effects of SLC12A3 913Gln allele in diabetic nephropathy. PMID: 25401745
    30. the SLC12A3 34372 AA genotype is associated with a reduced risk of diabetes. PMID: 24433479
    31. Identification of candidate mutations in the SLC12A3 gene that may induce exon skipping. PMID: 25060058
    32. findings demonstrate a predominant role played by SLC12A3 gene rs5804 in determining hypertension risk among northeastern Han Chinese PMID: 24430698
    33. These results suggest that WNK4 attenuates plasma membrane targeting of NCC proteins through regulation of syntaxin 13 SNARE complex formation with VAMP2 in recycling and sorting endosome. PMID: 23993962
    34. Mutation in the SLC12A3 gene is associated with gitelman syndrome and glomerular proteinuria. PMID: 25165177
    35. Association with SNP rs999662 indicates a potential role for the region containing the solute carrier family 12 member 3 (SLC12A3) gene in transcranial Doppler vasospasm following sub-arachnoid hemorrhage. PMID: 22568564
    36. a model where NCC is constitutively cycled to the plasma membrane, and upon stimulation, it can be phosphorylated to both increase NCC activity and decrease NCC endocytosis, together increasing NaCl transport in the DCT. PMID: 24668812
    37. Highly increased excretion of total urinary NCC and phosphorylated NCC is observed in type II pseudohypoaldosteronism patients. PMID: 24026181
    38. Total urine NCC excretion is diminished in a cohort of Gitelman's syndrome patients with homozygous NCC mutations. PMID: 23833262
    39. Hsp70 and Hsp90 comprise two functionally distinct ER quality control checkpoints that sequentially monitor NCC biogenesis. PMID: 23482560
    40. The TSC gene Arg904Gln polymorphism is not associated with essential hypertension risk. PMID: 23079845
    41. Analysis of SNP databases of Japanese patuients with diabetic nephropathy revealed SLC12A3 as a gene related to the above-cited diabetic complication. PMID: 23156397
    42. The NCC mutation p.Thr60Met carriers in Han populations have markedly lower blood pressure and slightly higher fasting plasma glucose compared with normal controls. PMID: 22627394
    43. Forty different SLC12A3 mutations were identified PMID: 22679066
    44. The study shows the identification of 38 novel mutations in the SLC12A3 gene and provides insight into the mechanisms that regulate the thiazide-sensitive NaCl cotransporter. PMID: 22009145
    45. Mutation leads to a failure of the thiazide-sensitive sodium-2-chloride-cotransporter, the so called Gitelman syndrome, which presents similar to a chronic thiazide therapy PMID: 21161146
    46. NCC exhibits distinct ERAD requirements, which correlate with its transmembrane topology and distinguish it from other clients PMID: 22027832
    47. Data show that K1169E lost its inhibitory effect on NCC surface expression compared to wild-type WNK4 when expressed in HEK293 cells, while it did not change NCC total protein expression. PMID: 21196779
    48. findings suggest that rs7204044 of TSC is a genetic factor for essential hypertension (EH) in Mongolian and Han populations and that rs13306673 is a genetic factor for EH in the Han population PMID: 21644207
    49. there was no significant association between the SLC12A3 R904Q variant and the ClC-Kb-T481S variant and essential hypertension in Mongolian and Han populations in Inner Mongolia PMID: 21644212
    50. In adult patients referred for renal hypokalaemia, we confirmed the presence of mutations of the SLC12A3 gene in 80% of cases PMID: 21753071

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  • 相關疾病：
    Gitelman syndrome (GTLMNS)
  • 亞細胞定位：
    Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    SLC12A transporter family
  • 組織特異性：
    Predominantly expressed in the kidney (at protein level). Localizes to the distal convoluted tubules (at protein level)(PubMed:29993276). Not detected in normal aorta, but abundantly expressed in fatty streaks and advanced atherosclerotic lesions (at prot
  • 數(shù)據(jù)庫鏈接：

    HGNC: 10912

    OMIM: 263800

    KEGG: hsa:6559

    STRING: 9606.ENSP00000402152

    UniGene: Hs.669115