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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) | |||
RALA | Ras-related protein Ral-A; Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. The RALA-exocyst complex regulates integrin-dependent membrane raft exocytosis and growth signaling. Key regulator of LPAR1 signaling and competes with GRK2 for binding to LPAR1 thus affecting the signaling properties of th [...] (206 aa) | |||
KRAS | GTPase KRas; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation. Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner; Belongs to the small GTPase superfamily. Ras family (189 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) | |||
RALB | Ras-related protein Ral-B; Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles (By similarity). Required both to stabilize the assembly of the exocyst complex and to localize functional exocyst complexes to the leading edge of migrating cells (By similarity). Required for suppression of apoptosis. In l [...] (206 aa) | |||
SLC26A2 | Sulfate transporter; Sulfate transporter. May play a role in endochondral bone formation; Solute carriers (739 aa) | |||
SLC26A5 | Prestin; Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage- to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplas [...] (744 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) | |||
SLC26A10 | Solute carrier family 26 member 10; Chloride/bicarbonate exchanger; Solute carriers (563 aa) | |||
SLC37A3 | Sugar phosphate exchanger 3; Solute carrier family 37 member 3 (494 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) | |||
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) | |||
SLC26A1 | Sulfate anion transporter 1; Mediates sulfate transport with high affinity. Mediates oxalate transport. Mediates bicarbonate transport (By similarity). Does not accept succinate as cosubstrate (By similarity); Solute carriers (701 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) | |||
SLC26A6 | Solute carrier family 26 member 6; Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis. Acts as a versatile DIDS-sensitive inorganic and organic anion transporter that mediates the uptake of monovalent anions like chloride, bicarbonate, formate and hydroxyl ion and divalent anions like sulfate and oxalate. Function in multiple exchange modes involving pairs of these anions, which include chloride-bicarbonate, chloride-oxalate, oxalate-formate, oxalate-sulfate and chloride- fo [...] (759 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) | |||
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) | |||
DICER1 | Endoribonuclease Dicer; Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3’ overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA- induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, a [...] (1922 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) |