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Description for Protein KCNJ1

potassium inwardly-rectifying channel, subfamily J, member 1
9 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04995
    KEGG - Pathway(s):
    hsa04960
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Renal outer medullary potassium channel; ROMK1; Atp-Regulated Potassium Channel Rom-K; Kir1.1; ROMK; Potassium inwardly-rectifying channel J1; ATP-sensitive inward rectifier potassium channel 1; Potassium inwardly-rectifying channel J1 isoform b; Potassium inwardly-rectifying channel J1 isoform a
    Approved Symbol:
    KCNJ1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 19
    Human (de-) phosphorylation sites: 19; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Acetohexamide(db);
  • Bethanidine(db);
  • Glibenclamide(db);
  • Glimepiride(db);
  • Glycodiazine(db);
  • Minoxidil(db);
  • Tolazamide(db);
  • Tolbutamide(db)

    Associated Genetic Diseases:

  • Bartter syndrome, antenatal, type 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 2
  • Isoform 4 : 2
  • Isoform 3 : 2
  • Isoform 2 : 2
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 08981 Entrez Gene ID: 3758 OMIM ID: 600359 Swissprot Accession: P48048;