JP

Drosophila melanogaster

junctophilin (jp) belongs to a gene family encoding proteins anchored to the endoplasmic reticulum through a transmembrane region. The product of jp contributes to the formation and maintenance of junctional membrane complexes. It serves as a physical bridge between the plasma membrane and the endoplasmic reticulum in excitable cells, allowing the functional crosstalk between ion channels. It is necessary for calcium signalling in muscle contraction and neuronal communication.

Vta1

Homo sapiens

C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]

nhx-3

Caenorhabditis elegans

Predicted to enable potassium:proton antiporter activity and sodium:proton antiporter activity. Predicted to be involved in potassium ion transmembrane transport; regulation of intracellular pH; and sodium ion import across plasma membrane. Predicted to be located in plasma membrane. Expressed in epithelial cell; hypodermis; and spermathecal-uterine junction. Human ortholog(s) of this gene implicated in congenital secretory sodium diarrhea 8 and end stage renal disease. Is an ortholog of human SLC9A3 (solute carrier family 9 member A3) and SLC9A5 (solute carrier family 9 member A5).

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]

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]