Recombinant Human ATP-sensitive inward rectifier potassium channel 1 (KCNJ1)
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Description
Introduction to Recombinant Human ATP-sensitive Inward Rectifier Potassium Channel 1 (KCNJ1)
The Recombinant Human ATP-sensitive Inward Rectifier Potassium Channel 1, also known as KCNJ1, is a protein that plays a vital role in potassium homeostasis, particularly within the kidneys . Inward rectifier potassium channels, such as KCNJ1, facilitate a greater flow of potassium into the cell compared to its outflow . The KCNJ1 gene encodes for the Kir1.1 protein, also known as the renal outer medullary K (ROMK) channel, found predominantly in the renal tubules .
Gene and Protein Characteristics
The KCNJ1 gene is located on chromosome 11 in humans . The protein encoded by KCNJ1 is an ATP-regulated potassium channel, which is also referred to as an inward rectifier K(+) channel or Kir1.1 . The molecular weight of the recombinant protein is approximately 28.3kDa .
Function and Mechanism
KCNJ1's function is significant in maintaining potassium balance within the body . It is involved in the recycling of potassium into the tubule lumen to energize the Na-K-2Cl co-transporter (NKCC2), which is essential for NaCl reabsorption . In the connecting tubule and collecting duct, KCNJ1 mediates potassium secretion and is electrically coupled with sodium reabsorption . The channel's voltage dependence is regulated by extracellular potassium concentrations; higher external potassium levels shift the channel opening to more positive voltages . The inward rectification is due to the blockage of outward current by internal magnesium . KCNJ1 is activated by internal ATP and can be blocked by external barium .
Clinical Significance
Mutations in the KCNJ1 gene have been associated with Bartter's syndrome, a salt-wasting tubulopathy . KCNJ1 is also considered a gene protective of hypertension in the general population .
Research and Studies
Product Specs
Form
Lyophilized powder
Note: While we prioritize shipping the format currently in stock, please specify your format preference in order remarks for customized preparation.
Note: While we prioritize shipping the format currently in stock, please specify your format preference in order remarks for customized preparation.
Lead Time
Delivery times vary depending on the purchase method and location. Consult your local distributor for precise delivery estimates.
Note: All proteins are shipped with standard blue ice packs. Dry ice shipping requires advance notification and incurs additional charges.
Note: All proteins are shipped with standard blue ice packs. Dry ice shipping requires advance notification and incurs additional charges.
Notes
Avoid repeated freeze-thaw cycles. Store working aliquots at 4°C for up to one week.
Reconstitution
Centrifuge the vial briefly before opening to collect the contents. Reconstitute the protein in sterile, deionized water to a concentration of 0.1-1.0 mg/mL. We recommend adding 5-50% glycerol (final concentration) and aliquoting for long-term storage at -20°C/-80°C. Our default glycerol concentration is 50%, provided as a guideline.
Shelf Life
Shelf life depends on various factors including storage conditions, buffer composition, temperature, and protein stability. Generally, liquid formulations have a 6-month shelf life at -20°C/-80°C, while lyophilized forms have a 12-month shelf life at -20°C/-80°C.
Storage Condition
Upon receipt, store at -20°C/-80°C. Aliquoting is essential for multiple uses. Avoid repeated freeze-thaw cycles.
Tag Info
Tag type is determined during the manufacturing process.
The specific tag type is determined during production. If you require a specific tag, please inform us for prioritized development.
The specific tag type is determined during production. If you require a specific tag, please inform us for prioritized development.
Synonyms
ATP regulated potassium channel ROM K; ATP sensitive inward rectifier potassium channel 1; ATP-regulated potassium channel ROM-K; ATP-sensitive inward rectifier potassium channel 1; Inward rectifier K(+) channel Kir1.1; inwardly rectifying K+ channel ; inwardly rectifying subfamily J member 1; IRK1_HUMAN; KCNJ 1; KCNJ; Kcnj1; Kir 1.1; Kir1.1; OTTHUMP00000045938; Potassium channel; Potassium channel inwardly rectifying subfamily J member 1; potassium inwardly-rectifying channel J1; ROMK 1; ROMK 2; ROMK; ROMK1; ROMK2
Buffer Before Lyophilization
Tris/PBS-based buffer, 6%
Trehalose.
Datasheet
Please contact us to get it.
Expression Region
1-391
Protein Length
Full length protein
Species
Homo sapiens (Human)
Target Names
KCNJ1
Target Protein Sequence
MNASSRNVFDTLIRVLTESMFKHLRKWVVTRFFGHSRQRARLVSKDGRCNIEFGNVEAQS
RFIFFVDIWTTVLDLKWRYKMTIFITAFLGSWFFFGLLWYAVAYIHKDLPEFHPSANHTP
CVENINGLTSAFLFSLETQVTIGYGFRCVTEQCATAIFLLIFQSILGVIINSFMCGAILA
KISRPKKRAKTITFSKNAVISKRGGKLCLLIRVANLRKSLLIGSHIYGKLLKTTVTPEGE
TIILDQININFVVDAGNENLFFISPLTIYHVIDHNSPFFHMAAETLLQQDFELVVFLDGT
VESTSATCQVRTSYVPEEVLWGYRFAPIVSKTKEGKYRVDFHNFSKTVEVETPHCAMCLY
NEKDVRARMKRGYDNPNFILSEVNETDDTKM
Uniprot No.
Target Background
Function
In the kidney, KCNJ1 (ROMK) likely plays a crucial role in potassium homeostasis. Inward rectifier potassium channels, such as ROMK, exhibit a preference for potassium influx over efflux. Their voltage dependence is modulated by extracellular potassium concentration; increasing external potassium shifts the channel opening voltage range to more positive potentials. Inward rectification primarily results from internal magnesium blockage of outward current. This channel is activated by intracellular ATP and can be inhibited by extracellular barium.
Gene References Into Functions
- Our whole-exome sequencing study confirmed the protective effects of SLC12A3, SLC12A1, and KCNJ1 against hypertension in the general population, replicating findings from a previous study identifying rare, potentially loss-of-function variants in these genes associated with reduced blood pressure. PMID: 30113482
- Immunofluorescence and subcellular fractionation studies demonstrated ROMK protein presence in the inner mitochondrial membrane and colocalization with mitochondrial markers in fibroblast mitochondria. PMID: 29458000
- Evidence suggests that the pathology underlying some Type II Bartter syndrome cases is linked to ROMK1 stability within the ERAD pathway. Using a yeast expression system, it was shown that wild-type (rat) ROMK1, but not ROMK1 variants containing four mutations found in human Type II Bartter syndrome, rescued cells. These mutant ROMKs exhibited significantly reduced stability compared to the wild-type. (ERAD = endoplasmic reticulum-associated degradation) PMID: 28630040
- WNK4, a substrate of SFKs, interacts with c-Src and PTP-1D at Tyr(1092) and Tyr(1143), significantly modulating WNK4's inhibitory effect on ROMK. PMID: 25805816
- KCNJ1 knockdown in HK-2 cells stimulated cell proliferation, indicating its crucial role in ccRCC cell growth and metastasis, with low expression correlating to poor prognosis. PMID: 25344677
- A study investigated the association between polymorphisms in KCNJ1, SLC12A1, and seven other genes with calcium intake and colorectal neoplasia risk. PMID: 25165391
- A KCNJ1 SNP was associated with increased fractional excretion of potassium (FEK) during hydrochlorothiazide (HCTZ) treatment. PMID: 22907731
- Molecular analysis of a Bartter syndrome patient revealed a compound heterozygous mutation in KCNJ1, comprising a novel K76E and a previously described V315G mutation, both impacting channel protein functional domains. PMID: 23782368
- Findings suggest that 11q24 is a susceptibility locus for openness, with KCNJ1 as a potential candidate gene. PMID: 23211697
- No KCNJ1 mutations were identified in patients with Bartter and Gitelman syndromes. PMID: 21631963
- PI3K-activating hormones inhibit ROMK by promoting its endocytosis through Akt1 and SGK1-mediated phosphorylation of WNK1. PMID: 21355052
- THGP modulation of ROMK function suggests a novel role in renal ion transport, potentially contributing to the salt wasting observed in FJHN/MCKD-2/GCKD patients. PMID: 21081491
- KCNJ1 mutations are associated with Bartter syndrome. PMID: 20219833
- ROMK1 is a PKC substrate; serine residues 4 and 201 are crucial PKC phosphorylation sites for cell surface ROMK1 expression. PMID: 12221079
- A disease-causing mutation in the ROMK channel truncates the extreme COOH-terminus, inducing a closed gating conformation. PMID: 12381810
- In a heterozygous Bartter syndrome patient, Arg338Stop and Met357Thr mutations in ROMK exon 5 altered the C-terminus, potentially affecting channel function. PMID: 12589089
- Findings support ROMK channels' role in potassium recycling and regulation of K+ secretion, providing a rationale for the phenotype observed in ROMK deficiency. PMID: 15895241
- N-terminal phosphorylation modifying a C-terminal ER retention signal in ROMK1 may serve as a checkpoint for proper subunit folding crucial for channel gating. PMID: 15987778
- ROMK is antagonistically regulated by long and kidney-specific WNK1 isoforms. PMID: 16428287
- A molecular mechanism for WNK kinase-mediated stimulation of ROMK1 endocytosis has been described. PMID: 17380208
- A novel KCNJ1 mutation was identified in a Bartter syndrome case initially diagnosed as pseudohypoaldosteronism. PMID: 17401586
- CD63 regulates ROMK channels through its interaction with RPTPα, which in turn activates Src family PTKs, reducing ROMK activity. PMID: 18211905
- The Framingham Heart Study screened for variations in SLC12A3, SLC12A1, and KCNJ1, genes associated with rare recessive diseases causing significant blood pressure reductions. PMID: 18391953
- Five KCNJ1 polymorphisms were associated with mean 24-hour systolic or diastolic blood pressure. PMID: 18443236
- Multiple intra- and intermolecular interactions of WNK1 domains are involved in WNK1 regulation of ROMK1 in the kidney. PMID: 18550644
- Results confirm the crucial role of the WNK4 acidic motif in its interaction with the ROMK channel. PMID: 18755144
- In a large cohort of antenatal/neonatal Bartter syndrome, deafness, transient hyperkalemia, and severe hypokalemic hypochloremic alkalosis guided molecular investigations towards BSND, KCNJ1, and CLCNKB genes. PMID: 19096086
- Cytoplasmic hydrophobic leucines in the inner transmembrane helices form the principal pH gate of Kir1.1, a gate relocatable from 160-Kir1.1b to 157-Kir1.1b. PMID: 19170254
- KS-WNK1 is a key physiological regulator of renal K+ excretion, likely through its effects on the ROMK1 channel. PMID: 19244242
- The cytoplasmic pore conformation in the Kir1.1 channel changes in response to pH gating; N- and C-termini move apart at pH 7.4, when the channel is open. PMID: 19272129
- Klotho regulates renal outer medullary potassium channel and renal K+ excretion. PMID: 19349416
- c-Src inhibits SGK1-mediated phosphorylation, restoring WNK4-mediated inhibition of ROMK channels and suppressing K+ secretion. PMID: 19706464
- POSH inhibits ROMK channels by enhancing dynamin-dependent and clathrin-independent endocytosis and stimulating ROMK channel ubiquitination. PMID: 19710010
Database Links
Involvement In Disease
Bartter syndrome 2, antenatal (BARTS2)
Protein Families
Inward rectifier-type potassium channel (TC 1.A.2.1) family, KCNJ1 subfamily
Subcellular Location
Cell membrane; Multi-pass membrane protein. Note=Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.
Tissue Specificity
In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver.
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