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| CFTR | Cystic fibrosis transmembrane conductance regulator; Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Plays an important role in airway fluid homeostasis. Contributes to the regulation of the pH [...] (1480 aa) | |||
| MRPL44 | 39S ribosomal protein L44, mitochondrial; Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome; Mitochondrial ribosomal proteins (332 aa) | |||
| SLC9A3R1 | Na(+)/H(+) exchange regulatory cofactor NHE-RF1; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of [...] (358 aa) | |||
| SLC26A4 | Pendrin; Sodium-independent transporter of chloride and iodide; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family (780 aa) | |||
| SLC2A13 | Proton myo-inositol cotransporter; H(+)-myo-inositol cotransporter. Can also transport related stereoisomers; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family (648 aa) | |||
| LRRK2 | Leucine-rich repeat serine/threonine-protein kinase 2; Positively regulates autophagy through a calcium- dependent activation of the CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes. Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Regulates neuronal process morphology in the intact [...] (2527 aa) | |||
| ARF4 | ADP-ribosylation factor 4; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus; ARF GTPase family (180 aa) | |||
| RND1 | Rho-related GTP-binding protein Rho6; Lacks intrinsic GTPase activity. Has a low affinity for GDP, and constitutively binds GTP. Controls rearrangements of the actin cytoskeleton. Induces the Rac-dependent neuritic process formation in part by disruption of the cortical actin filaments. Causes the formation of many neuritic processes from the cell body with disruption of the cortical actin filaments; Rho family GTPases (232 aa) | |||
| SLC37A2 | Glucose-6-phosphate exchanger SLC37A2; Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6- phosphatase. May not play a role in homeostatic regulation of blood glucose levels; Solute carriers (505 aa) | |||
| SLC37A3 | Sugar phosphate exchanger 3; Solute carrier family 37 member 3 (494 aa) | |||
| SPNS2 | Protein spinster homolog 2; Sphingolipid transporter required for migration of myocardial precursors. Transports sphingosine 1-phosphate (S1P), a secreted lipid mediator that plays critical roles in cardiovascular, immunological, and neural development and function. Mediates the export of S1P from cells in the extraembryonic yolk syncytial layer (YSL), thereby regulating myocardial precursor migration (549 aa) | |||
| SLC37A1 | Glucose-6-phosphate exchanger SLC37A1; Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6- phosphatase. May not play a role in homeostatic regulation of blood glucose levels; Belongs to the major facilitator superfamily. Organophosphate-Pi antiporter (OPA) (TC 2.A.1.4) family (533 aa) | |||
| SLC26A3 | Chloride anion exchanger; Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation; Solute carriers (764 aa) | |||
| SPNS3 | Protein spinster homolog 3; Sphingolipid transporter (512 aa) | |||
| RAB4B | Ras-related protein Rab-4B; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family (213 aa) | |||
| GOLGA7 | Golgin subfamily A member 7; May be involved in protein transport from Golgi to cell surface. The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS (137 aa) | |||
| RAB4A | Ras-related protein Rab-4A; Protein transport. Probably involved in vesicular traffic (By similarity); RAB, member RAS oncogene GTPases (218 aa) | |||
| GOLGA7B | Golgin subfamily A member 7B; May be involved in protein transport from Golgi to cell surface; Belongs to the ERF4 family (167 aa) | |||
| DACH2 | Dachshund homolog 2; Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal retina. SIX6 corepression seems also to involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the developing somite, expression of DACH2 and PAX3 is regulated by the overlyin [...] (599 aa) | |||
| ENSG00000160200 | Cystathionine-beta-synthase (551 aa) | |||
| CBSL | Cystathionine beta-synthase-like protein; Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L- homocysteine. Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (551 aa) | |||
| ABCC1 | Multidrug resistance-associated protein 1; Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o- glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs. Hydrolyzes ATP with low efficiency; Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily (1531 aa) | |||
| SLC9A3R2 | Na(+)/H(+) exchange regulatory cofactor NHE-RF2; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus; PDZ domain containing (337 aa) | |||
| SLC2A1 | Solute carrier family 2, facilitated glucose transporter member 1; Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily (492 aa) | |||
| NDUFAB1 | Acyl carrier protein, mitochondrial; Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain; Belongs to the acyl carrier protein (ACP) family (156 aa) | |||
| SLC37A4 | Glucose-6-phosphate exchanger SLC37A4; Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6- phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction. Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels; Belongs to the major facilitator superfamily. Organophosphate-Pi antiporter (OPA) (TC 2.A.1.4) family (451 aa) | |||
