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Rabbit Anti-KCNE1/FITC Conjugated antibody
background:
The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].
Function:
Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).
Subunit:
Associates with KCNQ1/KVLQT1 and KCNH2/HERG.
Subcellular Location:
Membrane; Single-pass type I membrane protein.
Tissue Specificity:
Expressed in heart, lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells.
Post-translational modifications:
Phosphorylation inhibits the potassium current (By similarity).
N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5.
DISEASE:
Defects in KCNE1 are the cause of Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]. JLNS2 is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death.
Defects in KCNE1 are the cause of long QT syndrome type 5 (LQT5) [MIM:613695]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress. KCNE1 mutants form channels that open slowly and close rapidly, thereby diminishing potassium currents.
Similarity:
Belongs to the potassium channel KCNE family.
Database links:
Entrez Gene: 3753 Human
Entrez Gene: 16509 Mouse
Entrez Gene: 397331 Pig
Entrez Gene: 25471 Rat
Omim: 176261 Human
SwissProt: P15382 Human
SwissProt: P23299 Mouse
SwissProt: Q9TUH9 Pig
SwissProt: P15383 Rat
Unigene: 121495 Human
Unigene: 299425 Mouse
Unigene: 9734 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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