Introduction of KCNJ1
KCNJ1 is encoded by KCNJ1 gene. It belongs to the Potassium Voltage-Gated Channel Subfamily J which has been extensively studied during the past few decades because it offers numerous possibilities for therapeutic applications. It participates in a wide range of biological functions, such as potassium balance and the protection against hypoxia-induced brain injury. KCNJ1 activity is regulated by a variety of kinases and phosphatases. Recent research shows that KCNJ1 variations are associated with multiple diseases, include antenatal Bartter syndrome, thiazide-induced dysglycemia, and diabetes.
Basic Information of KCNJ1 | |
Protein Name | ATP-sensitive inward rectifier potassium channel 1 |
Gene Name | KCNJ1 |
Aliases | ROMK1 |
Organism | Homo sapiens (Human) |
UniProt ID | P48048 |
Transmembrane Times | 2 |
Length (aa) | 391 |
Sequence | MNASSRNVFDTLIRVLTESMFKHLRKWVVTRFFGHSRQRARLVSKDGRCNIEFGNVEAQSRFIFFVDIWTTVLDLKWRYKMTIFITAFLGSWFFFGLLWYAVAYIHKDLPEFHPSANHTPCVENINGLTSAFLFSLETQVTIGYGFRCVTEQCATAIFLLIFQSILGVIINSFMCGAILAKISRPKKRAKTITFSKNAVISKRGGKLCLLIRVANLRKSLLIGSHIYGKLLKTTVTPEGETIILDQININFVVDAGNENLFFISPLTIYHVIDHNSPFFHMAAETLLQQDFELVVFLDGTVESTSATCQVRTSYVPEEVLWGYRFAPIVSKTKEGKYRVDFHNFSKTVEVETPHCAMCLYNEKDVRARMKRGYDNPNFILSEVNETDDTKM |
Function of KCNJ1 Membrane Protein
KCNJ1, also named renal outer medullary K+ channel (ROMK), is an ATP-dependent potassium channel in apical membranes of kidney tubules. It plays an important role in lymph pump activity, lymph transport, lymph formation, and the functions of lymph nodes. Previous research has indicated that KCNJ1 variants are significantly related to colorectal adenoma, which suggests it may play a crucial role in tumorigenesis. In addition, studies indicate that KCNJ1 regulates channel activity by reducing expression of KCNJ1 at the cell surface.
Fig.1 Basic structure and Kir channel phylogenetic tree.
Application of KCNJ1 Membrane Protein in Literature
This article conducts a high-throughput sequencing in patients who suffer from bartter syndrome (BS) and Gitelman syndrome (GS) to investigate the SNP in BS and GS. The results show that KCNJ1 c.941A> G (p.Tyr314Cys) is likely a target for diagnoses and treatment.
Authors examine the expression level of genes related to Renal cell carcinoma, include (PRKCDBP, EHD2, KCNJ10, ATP1A1, KCNJ1, and EHD2) to identify the prognostic markers and therapeutic targets in RCC. The data indicate that COPS7B may be a biomarker for RCC.
Authors in this group conduct a case report on Bartter syndrome patients, and the result of DNA sequencing demonstrates that KCNJ1 gene mutations, c. 931C >T (p.R311W) and c. 445-446insCCTGAACAC (p.V149Afs, 150X) could be markers for clinical therapy.
This article focuses on the pharmacological role of ERRγ and Kcnj1 in human renal tubular epithelial cells. These results show that ERRγ-Kcnj1 is closely associated with ischemic preconditioning and it is a regulatory factor for protecting the renal ischemia-reperfusion injury.
This article evaluates the relationship between KCNJ1 and clear cell renal cell carcinoma. The data illustrate that KCNJ1 could be a target for ccRCC prognosis and treatment.
KCNJ1 Preparation Options
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