bark

Drosophila melanogaster

bark beetle (bark) encodes a putative transmembrane scavenger receptor-like protein that is essential for the maturation of septate junctions (SJ). Loss of bark produces cell adhesion defects and mislocalization of SJ core complexes.

pck

Drosophila melanogaster

pickel (pck) encodes a transmembrane protein of the Claudin superfamily. It is part of the septate junction (SJ) core complex and essential for SJ morphogenesis and function. The transepithelial barrier function of epithelial tissues is affected in pck mutants.

Kcne1

Homo sapiens

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]

kqt-3

Caenorhabditis elegans

Enables potassium channel activity. Involved in G protein-coupled acetylcholine receptor signaling pathway and potassium ion transport. Predicted to be located in membrane. Predicted to be part of voltage-gated potassium channel complex. Expressed in head neurons; intestine; and sensory neurons. Used to study Jervell-Lange Nielsen syndrome. Human ortholog(s) of this gene implicated in several diseases, including heart conduction disease (multiple); long QT syndrome (multiple); and type 2 diabetes mellitus. Is an ortholog of human KCNQ1 (potassium voltage-gated channel subfamily Q member 1).

Kcne1

Rattus norvegicus

Enables delayed rectifier potassium channel activity; potassium channel regulator activity; and transmembrane transporter binding activity. Involved in several processes, including cellular response to acidic pH; male gonad development; and negative regulation of protein targeting to membrane. Located in Z disc and apical plasma membrane. Part of voltage-gated potassium channel complex. Biomarker of congestive heart failure. Human ortholog(s) of this gene implicated in Jervell-Lange Nielsen syndrome; atrial fibrillation; long QT syndrome; and long QT syndrome 5. Orthologous to human KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1); PARTICIPATES IN acebutolol pharmacodynamics pathway; adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway; amiodarone pharmacodynamics pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; ammonium chloride.

Kcnq1

Homo sapiens

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]