Recombinant Human Atp-Sensitive Inward Rectifier Potassium Channel 1 (KCNJ1) Protein (His)

Beta LifeScience SKU/CAT #: BLC-08561P
Greater than 90% as determined by SDS-PAGE.
Greater than 90% as determined by SDS-PAGE.

Recombinant Human Atp-Sensitive Inward Rectifier Potassium Channel 1 (KCNJ1) Protein (His)

Beta LifeScience SKU/CAT #: BLC-08561P
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Product Overview

Description Recombinant Human Atp-Sensitive Inward Rectifier Potassium Channel 1 (KCNJ1) Protein (His) is produced by our E.coli expression system. This is a cytoplasmic protein.
Purity Greater than 90% as determined by SDS-PAGE.
Uniprotkb P48048
Target Symbol KCNJ1
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
Species Homo sapiens (Human)
Expression System E.coli
Tag N-6His
Target Protein Sequence ILAKISRPKKRAKTITFSKNAVISKRGGKLCLLIRVANLRKSLLIGSHIYGKLLKTTVTPEGETIILDQININFVVDAGNENLFFISPLTIYHVIDHNSPFFHMAAETLLQQDFELVVFLDGTVESTSATCQVRTSYVPEEVLWGYRFAPIVSKTKEGKYRVDFHNFSKTVEVETPHCAMCLYNEKDVRARMKRGYDNPNFILSEVNETDDTKM
Expression Range 178-391
Protein Length Cytoplasmic Domain
Mol. Weight 28.3kDa
Research Area Signal Transduction
Form Liquid or Lyophilized powder
Buffer Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage 1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium.
Subcellular Location Cell membrane; Multi-pass membrane protein. Note=Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.
Protein Families Inward rectifier-type potassium channel (TC 1.A.2.1) family, KCNJ1 subfamily
Database References

HGNC: 6255

OMIM: 241200

KEGG: hsa:3758

STRING: 9606.ENSP00000376432

UniGene: PMID: 30113482

  • The presence of ROMK protein was observed in the inner mitochondrial membrane fraction. Moreover, colocalization of the ROMK protein and a mitochondrial marker in the mitochondria of fibroblast cells was shown by immunofluorescence. PMID: 29458000
  • Data suggest underlying pathology for some patients with type II Bartter syndrome is linked to stability of ROMK1 in ERAD pathway; using a yeast expression system, cells can be rescued by wild-type (rat) ROMK1 but not by ROMK1 containing any one of four mutations found in (human) type II Bartter syndrome; mutant ROMKs are significantly less stable than wild-type ROMK. (ERAD = endoplasmic reticulum-associated degradation) PMID: 28630040
  • WNK4 is a substrate of SFKs and the association of c-Src and PTP-1D with WNK4 at Tyr(1092) and Tyr(1143) plays an important role in modulating the inhibitory effect of WNK4 on ROMK PMID: 25805816
  • knockdown of KCNJ1 in HK-2 cells promoted cell proliferation. Collectively, these data highlight that KCNJ1, low-expressed in ccRCC and associated with poor prognosis, plays an important role in ccRCC cell growth and metastasis PMID: 25344677
  • The association between polymorphisms in KCNJ1, SLC12A1, and 7 other genes and calcium intake and colorectal neoplasia risk was studied. PMID: 25165391
  • A KCNJ1 SNP was associated with increased FG during HCTZ treatment. PMID: 22907731
  • Molecular analysis revealed a compound heterozygous mutation in the KCNJ1 gene, consisting of a novel K76E and an already described V315G mutation, both affecting functional domains of the channel protein. PMID: 23782368
  • Findings suggest that 11q24 is a susceptible locus for openness, with KCNJ1 as the possible candidate gene. PMID: 23211697
  • no mutation in the KCNJ1 gene, among patients suffering from bartter and Gitelman syndromes PMID: 21631963
  • PI3K-activating hormones inhibit ROMK by enhancing its endocytosis via a mechanism that involves phosphorylation of WNK1 by Akt1 and SGK1. PMID: 21355052
  • THGP modulation of ROMK function confers a new role of THGP on renal ion transport and may contribute to salt wasting observed in FJHN/MCKD-2/GCKD patients. PMID: 21081491
  • KCNJ1 mutations are associated with Bartter syndrome. PMID: 20219833
  • ROMK1 is a substrate of PKC and that serine residues 4 and 201 are the two main PKC phosphorylation sites that are essential for the expression of ROMK1 in the cell surface PMID: 12221079
  • One disease-causing mutation in the ROMK channel truncates the extreme COOH-terminus and induces a closed gating conformation. PMID: 12381810
  • In a heterozgous Bartter syndrome patient, AA exchanges Arg338Stop & Met357Thr in ROMK exon 5 alter the C-terminus of the ROMK protein & can affect channel function. PMID: 12589089
  • Findings support the proposed role of ROMK channels in potassium recycling and in the regulation of K+ secretion and present a rationale for the phenotype observed in patients with ROMK deficiency. PMID: 15895241
  • NH(2)-terminal phosphorylation modifying a COOH-terminal ER retention signal in ROMK1 could serve as a checkpoint for proper subunit folding critical to channel gating. PMID: 15987778
  • ROMK is antagonistically regulated by long and kidney-specific WNK1 isoforms PMID: 16428287
  • molecular mechanism for stimulation of endocytosis of ROMK1 by WNK kinases PMID: 17380208
  • A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. PMID: 17401586
  • CD63 plays a role in the regulation of ROMK channels through its association with RPTPalpha, which in turn interacts with and activates Src family PTK, thus reducing ROMK activity. PMID: 18211905
  • Members of the Framingham Heart Study were screened for variation in three genes-SLC12A3, SLC12A1 and KCNJ1 causing rare recessive diseases featuring large reductions in blood pressure. PMID: 18391953
  • Five polymorphisms in the KCNJ1 gene coding for the potassium channel, ROMK, showed associations with mean 24-hour systolic or diastolic blood pressure. PMID: 18443236
  • Multiple intra- and/or intermolecular interactions of WNK1 domains are at play for regulation of ROMK1 by WNK1 in the kidney. PMID: 18550644
  • These results confirm the important role of the acidic motif of WNK4 in its protein-protein interaction with the ROMK channel. PMID: 18755144
  • In a large cohort of ante/neonatal Bartter syndrome, deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively. PMID: 19096086
  • hydrophobic leucines at the cytoplasmic end of the inner transmembrane helices comprise the principal pH gate of Kir1.1, a gate that can be relocated from 160-Kir1.1b to 157-Kir1.1b. PMID: 19170254
  • KS-WNK1 is an important physiological regulator of renal K(+) excretion, likely through its effects on the ROMK1 channel. PMID: 19244242
  • These results suggest that the conformation of the cytoplasmic pore in the Kir1.1 channel changes in response to pHi gating such that the N- and C-termini move apart from each other at pHi 7.4, when the channel is open. PMID: 19272129
  • Regulation of renal outer medullary potassium channel and renal K(+) excretion by Klotho. PMID: 19349416
  • c-Src inhibits SGK1-mediated phosphorylation hereby restoring the WNK4-mediated inhibition of ROMK channels thus suppressing K secretion. PMID: 19706464
  • POSH inhibits ROMK channels by enhancing dynamin-dependent and clathrin-independent endocytosis and by stimulating ubiquitination of ROMK channels. PMID: 19710010
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