MGP Database

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MGP001728

UniProt Annotations

Entry Information
Gene Namepotassium channel, inwardly rectifying subfamily J, member 11
Protein EntryKCJ11_HUMAN
UniProt IDQ14654
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14654-1; Sequence=Displayed; Name=2; IsoId=Q14654-2; Sequence=VSP_045270;
DiseaseDiabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood- onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO:0000269|PubMed:15115830, ECO:0000269|PubMed:15292329, ECO:0000269|PubMed:15448106, ECO:0000269|PubMed:15448107, ECO:0000269|PubMed:15580558, ECO:0000269|PubMed:16609879, ECO:0000269|PubMed:16731833, ECO:0000269|PubMed:17213273}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseFamilial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO:0000269|PubMed:10204114, ECO:0000269|PubMed:12364426, ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:15579781, ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:15998776, ECO:0000269|PubMed:16332676, ECO:0000269|PubMed:16357843, ECO:0000269|PubMed:7847376, ECO:0000269|PubMed:8923010}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=Defects in KCNJ11 may contribute to non-insulin- dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2.
DiseaseTransient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]: Neonatal diabetes mellitus, defined as insulin- requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described. {ECO:0000269|PubMed:15718250, ECO:0000269|PubMed:15784703}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThis receptor is controlled by G proteins. 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. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation. {ECO:0000250, ECO:0000269|PubMed:17855752, ECO:0000269|PubMed:9831708}.
PtmPhosphorylation by MAPK1 results in changes in channel gating that destabilize the closed states and reduce the ATP sensitivity. {ECO:0000269|PubMed:18280666}.
Sequence CautionSequence=AAH40617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
SubunitInteracts with ABCC8/SUR. Interacts with ABCC9/SUR2. {ECO:0000269|PubMed:17855752, ECO:0000269|PubMed:9831708}.
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