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CFTR | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1 (1480 aa) | |||
C1QBP | complement component 1, q subcomponent binding protein; Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular "heads" of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with cytokera [...] (282 aa) | |||
KCNJ8 | potassium inwardly-rectifying channel, subfamily J, member 8; This potassium channel 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 external barium (By similarity) (424 aa) | |||
KCNJ2 | potassium inwardly-rectifying channel, subfamily J, member 2; Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. 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 inter [...] (427 aa) | |||
ABCC9 | ATP-binding cassette, sub-family C (CFTR/MRP), member 9; Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation (1549 aa) | |||
ABCB1 | ATP-binding cassette, sub-family B (MDR/TAP), member 1; Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells (1280 aa) | |||
CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit (2186 aa) | |||
ANK3 | ankyrin 3, node of Ranvier (ankyrin G); In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments (4377 aa) | |||
GJA1 | gap junction protein, alpha 1, 43kDa; Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity- acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural s [...] (382 aa) | |||
SCN3A | sodium channel, voltage-gated, type III, alpha subunit (2000 aa) | |||
CACNA1D | calcium channel, voltage-dependent, L type, alpha 1D subunit; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the ’high-voltage activated’ (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and b [...] (2181 aa) | |||
DLG4 | discs, large homolog 4 (Drosophila); Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B (By similarity) (767 aa) | |||
PRKCE | protein kinase C, epsilon; Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin-dependent signaling, by mediating angiotensin-2-induced activation of integrin beta-1 (ITG [...] (737 aa) | |||
SCN5A | sodium channel, voltage-gated, type V, alpha subunit (2016 aa) | |||
P2RX4 | purinergic receptor P2X, ligand-gated ion channel, 4; Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin (388 aa) | |||
SNCA | synuclein, alpha (non A4 component of amyloid precursor); May be involved in the regulation of dopamine release and transport. Induces fibrillization of microtubule-associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation (140 aa) | |||
GJA4 | gap junction protein, alpha 4, 37kDa (333 aa) | |||
KCNJ11 | potassium inwardly-rectifying channel, subfamily J, member 11; This 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) [...] (390 aa) | |||
DLG1 | discs, large homolog 1 (Drosophila) (926 aa) | |||
ANK2 | ankyrin 2, neuronal; In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner se [...] (3957 aa) | |||
CACNA1G | calcium channel, voltage-dependent, T type, alpha 1G subunit (2377 aa) | |||
CACNA1S | calcium channel, voltage-dependent, L type, alpha 1S subunit; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the ’high-voltage activated’ (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and b [...] (1873 aa) | |||
TMEFF1 | transmembrane protein with EGF-like and two follistatin-like domains 1; May inhibit NODAL and BMP signaling during neural patterning (By similarity). May be a tumor suppressor in brain cancers (380 aa) | |||
ABCC8 | ATP-binding cassette, sub-family C (CFTR/MRP), member 8; Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release (1581 aa) | |||
ABCC1 | ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (1531 aa) | |||
NAALADL2 | N-acetylated alpha-linked acidic dipeptidase-like 2; May be catalytically inactive (795 aa) |