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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) | |||
GABRA1 | gamma-aminobutyric acid (GABA) A receptor, alpha 1; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel (456 aa) | |||
BEST2 | bestrophin 2; Forms calcium-sensitive chloride channels. Permeable to bicarbonate (509 aa) | |||
CLIC5 | chloride intracellular channel 5; Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Required for normal formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (410 aa) | |||
GLRA2 | glycine receptor, alpha 2; The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing) (452 aa) | |||
YWHAQ | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1 (245 aa) | |||
ATP1B2 | ATPase, Na+/K+ transporting, beta 2 polypeptide; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known (290 aa) | |||
TTYH3 | tweety homolog 3 (Drosophila); Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction (523 aa) | |||
FXYD6 | FXYD domain containing ion transport regulator 6 (95 aa) | |||
PPAP2A | phosphatidic acid phosphatase type 2A; Broad-specificity phosphohydrolase that dephosphorylates exogenous bioactive glycerolipids and sphingolipids. Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). Pivotal regulator of lysophosphatidic acid (LPA) signaling in the cardiovascular system. Major enzyme responsible of dephosphorylating LPA in platelets, which terminates signaling actions of LPA. May control circulating, and possibly also regulate localized, LPA levels resulting from platelet activation. It has little activity towards ceramide-1-phosphate (C-1-P) an [...] (285 aa) | |||
FXYD7 | FXYD domain containing ion transport regulator 7 (80 aa) | |||
ATP1B3 | ATPase, Na+/K+ transporting, beta 3 polypeptide; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known (279 aa) | |||
FXYD2 | FXYD domain containing ion transport regulator 2; May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase (66 aa) | |||
ATP1A1 | ATPase, Na+/K+ transporting, alpha 1 polypeptide; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients (1023 aa) | |||
ATP1A3 | ATPase, Na+/K+ transporting, alpha 3 polypeptide; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients (1013 aa) | |||
PAM | peptidylglycine alpha-amidating monooxygenase (974 aa) | |||
PRKACA | protein kinase, cAMP-dependent, catalytic, alpha; Phosphorylates a large number of substrates in the cytoplasm and the nucleus. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis. Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA, TRPC1 and VASP. RORA is activated by phosphorylation. Required for glucose-mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts. Involved in th [...] (351 aa) | |||
PPP1CA | protein phosphatase 1, catalytic subunit, alpha isozyme; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent p [...] (341 aa) | |||
FXYD1 | FXYD domain containing ion transport regulator 1; May have a functional role in muscle contraction. Induces a hyperpolarization-activated chloride current when exogenously expressed (92 aa) | |||
DMPK | dystrophia myotonica-protein kinase; Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular c [...] (639 aa) | |||
ANO1 | anoctamin 1, calcium activated chloride channel; Calcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development (986 aa) | |||
ATP1A2 | ATPase, Na+/K+ transporting, alpha 2 polypeptide; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients (1020 aa) | |||
ATP1B1 | ATPase, Na+/K+ transporting, beta 1 polypeptide; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane (303 aa) | |||
ATP1A4 | ATPase, Na+/K+ transporting, alpha 4 polypeptide; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility (1029 aa) | |||
FXYD4 | FXYD domain containing ion transport regulator 4 (89 aa) | |||
FXYD3 | FXYD domain containing ion transport regulator 3; Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes. May be a modulator capable of activating endogenous oocyte channels (144 aa) |