mboa-3

Caenorhabditis elegans

Predicted to enable acyltransferase activity. Predicted to be involved in lipid modification. Predicted to be located in membrane. Is an ortholog of human MBOAT1 (membrane bound O-acyltransferase domain containing 1) and MBOAT2 (membrane bound O-acyltransferase domain containing 2).

mboa-4

Caenorhabditis elegans

Predicted to enable acyltransferase activity. Predicted to be involved in lipid modification. Predicted to be located in membrane. Is an ortholog of human MBOAT1 (membrane bound O-acyltransferase domain containing 1) and MBOAT2 (membrane bound O-acyltransferase domain containing 2).

pssy-1

Caenorhabditis elegans

Predicted to enable L-serine-phosphatidylethanolamine phosphatidyltransferase activity. Predicted to be involved in phosphatidylserine biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in Lenz-Majewski hyperostotic dwarfism. Is an ortholog of human PTDSS1 (phosphatidylserine synthase 1).

ps

Drosophila melanogaster

pasilla (ps) encodes a nuclear RNA binding protein implicated in splicing. It is expressed at high levels in the embryonic salivary gland and other tissues. Loss of function results in a significant reduction in secretory volume and secretory vesicles in the salivary gland and irregular gland morphology.

mboa-6

Caenorhabditis elegans

Predicted to enable 1-acylglycerophosphocholine O-acyltransferase activity and lysophospholipid acyltransferase activity. Involved in glycerophospholipid biosynthetic process; positive regulation of growth rate; and post-embryonic development. Predicted to be located in endoplasmic reticulum and membrane. Expressed in pharyngeal muscle cell and tail. Is an ortholog of human LPCAT3 (lysophosphatidylcholine acyltransferase 3).

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.

Ulk2

Homo sapiens

This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 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]