9234ContextHartnup DisorderHartunup Disorder (HND, Hartnup Disease) is an autosomal recessive disease caused by a mutation in the SLC6A19 which codes for sodium-dependent neutral amino acid transporter B(0). A deficiency in this enzyme results in accumulation of L-alanine, L-asparagine, L-histidine, indoleacetic acid, L-isoleucine, L-leucine, L-phenylalanine, L-serine, L-threonine, L-tryptophan, L-valine, and L-tyrosine in urine. Symptoms include pellagra, psychosis, ataxia, and mental retardation. Treatment includes nicotinamide.DiseasePW122027CenterPathwayVisualizationContext12230345004000#000099PathwayVisualization112780112917Kidney FunctionKidneys are regulatory organs involved in removing wastes from the blood, hormone production, nutrient reabsorption, and regulating electrolyte concentrations, acid-base balance, extracellular fluid volume, and blood pressure. The early proximal tubule is where glucose, amino acids, sodium, chlorine, phosphate, bicarbonate, and water are reabsorbed. Only water is reabsorbed in the thin descending loop of Henle, while sodium, chlorine and potassium are reabsorbed in the thick ascending loop of Henle. Sodium and chlorine are also reabsorbed in the early distal convoluted tubule. Finally, sodium and water are reabsorbed in the collecting tubules. Blood pressure is regulated by the hormones angiotensin II and aldosterone, which increases sodium chloride reabsorption. This results in an expansion of the extracellular fluid compartment, thus increasing blood pressure.Physiological17109343356SubPathway108711174Bound44410871210960ProteinComplex3761087139387ProteinComplex3761CellCL:00000007Epithelial CellCL:00000663NeuronCL:00005408Beta cellCL:00006395HepatocyteCL:00001824Cardiomyocyte CL:00007462Platelet CL:00002336MyocyteCL:00001871Homo sapiens9606EukaryoteHuman18Saccharomyces cerevisiae4932EukaryoteYeast12Mus musculus10090EukaryoteMouse5Bos taurus9913EukaryoteCattle17Rattus norvegicus10116EukaryoteRat3Escherichia coli562Prokaryote23Pseudomonas aeruginosa287Prokaryote24Solanum lycopersicum4081EukaryoteTomato4Arabidopsis thaliana3702EukaryoteThale cress51Picea sitchensis3332EukaryoteSitka spruce10Drosophila melanogaster7227EukaryoteFruit fly6Caenorhabditis elegans6239EukaryoteRoundworm2Bacteria2ProkaryoteBacteria19Schizosaccharomyces pombe4896Eukaryote21Xenopus laevis8355EukaryoteAfrican clawed frog25Escherichia coli (strain K12)83333Prokaryote49Bathymodiolus platifrons220390EukaryoteDeep sea mussel60Nitzschia sp.0001EukaryoteNitzschia411Extracellular SpaceGO:00056151CytosolGO:00058295CytoplasmGO:000573731Periplasmic SpaceGO:000562035ChloroplastGO:00095076LysosomeGO:00057644PeroxisomeGO:00057773Mitochondrial MatrixGO:00057592MitochondrionGO:000573910Cell MembraneGO:000588616Lysosomal LumenGO:00432027Endoplasmic Reticulum MembraneGO:000578918Melanosome MembraneGO:003316213Endoplasmic ReticulumGO:000578325Golgi apparatusGO:000579414Mitochondrial Outer MembraneGO:000574112Mitochondrial Inner MembraneGO:000574320Endoplasmic Reticulum LumenGO:000578821SynapseGO:004520215NucleusGO:000563436MembraneGO:001602053Endoplasmic Reticulum BodyGO:001016834Plant-Type VacuoleGO:000032540PeriplasmGO:004259738Apical cell membraneGO:001632437Basolateral cell membraneGO:001632327Peroxisome MembraneGO:00057788Blood VesselBTO:000110274111LiverBTO:000075972925IntestineBTO:00006483Sympathetic Nervous SystemBTO:000183218PancreasBTO:00009884Adrenal MedullaBTO:000004971828StomachBTO:0001307155267Nervous SystemBTO:000148411HeartBTO:000056273102Endothelium BTO:00003939MuscleBTO:00008871411815111PW_BS0000152111PW_BS0000025181PW_BS0000518511PW_BS00000829111PW_BS000029711PW_BS0000071901118PW_BS0000241141112PW_BS000114409115PW_BS0001151371117PW_BS00013760251PW_BS000060612517PW_BS000061711113PW_BS00007172513PW_BS0000727413PW_BS000074105113PW_BS000105107313PW_BS00010710813PW_BS0001081873118PW_BS000024188118PW_BS0000243183123PW_BS000024315123PW_BS00002435325127PW_BS000028326812PW_BS0000283522512PW_BS0000281321121PW_BS000132436255PW_BS0001154372557PW_BS00011541685PW_BS000115124151PW_BS00012447225177PW_BS000115452817PW_BS0001154712517PW_BS0001151181171PW_BS000118193513PW_BS0000196618518PW_BS0000661471241PW_BS000147151141PW_BS0001511601181PW_BS0001601985181PW_BS00002430635511PW_BS0000242253541PW_BS0000241115121PW_BS000111122551PW_BS0001221355171PW_BS0001352975101PW_BS0000242991101PW_BS000024205561PW_BS000024388161PW_BS0001129611PW_BS0000095411PW_BS0000054311PW_BS0000043211PW_BS00000314101PW_BS00001413121PW_BS0000132811611PW_BS000028101711PW_BS000010204111PW_BS000020331811PW_BS000033181311PW_BS000018311511PW_BS00003149711PW_BS000049541315PW_BS000054432511PW_BS0000432441011PW_BS000024221411PW_BS00002246114PW_BS000046171211PW_BS0000177028511PW_BS0000703612011PW_BS0000363772113PW_BS00003793252011PW_BS00009327151PW_BS000027971521PW_BS000097100521PW_BS000100943PW_BS000094103331PW_BS0001031136121PW_BS0001131122121PW_BS000112110231PW_BS0001101231751PW_BS0001231251351PW_BS000125126651PW_BS00012612711651PW_BS00012713013121PW_BS00013012915121PW_BS0001296131PW_BS000006140103PW_BS000140101531PW_BS00010114315191PW_BS0001431465191PW_BS000146951721PW_BS0000951553241PW_BS0001551572241PW_BS0001571613181PW_BS0001611632181PW_BS00016315924PW_BS00015911PW_BS00000116611PW_BS0001661783211PW_BS0001781802211PW_BS00018015284PW_BS000152117131PW_BS000117207661PW_BS000024206261PW_BS0000242111018PW_BS0000242137181PW_BS00002421425181PW_BS0000242156181PW_BS0000242164181PW_BS00002421013181PW_BS00002421217181PW_BS000024222341PW_BS000024224241PW_BS00002417018PW_BS000170226441PW_BS00002416212181PW_BS000162261115PW_BS0000262771218PW_BS0000241644PW_BS0001642811251PW_BS0000242851041PW_BS0000242863641PW_BS0000242875341PW_BS0000242491341PW_BS0000242273441PW_BS00002465111PW_BS0000652905491PW_BS0000242916491PW_BS0000242924491PW_BS00002429817101PW_BS00002430013101PW_BS0000243016101PW_BS000024302116101PW_BS0000242231241PW_BS0000242941141PW_BS0000243081011PW_BS0000243221231PW_BS00002429341PW_BS000024253541PW_BS0000241333121PW_BS00013313412121PW_BS0001343317121PW_BS00002833217121PW_BS0000283331212PW_BS0000281151012PW_BS0001153344121PW_BS0000283361121PW_BS000028337116121PW_BS00002834141121PW_BS00002834318121PW_BS00002834713125PW_BS00002832914121PW_BS00002835625121PW_BS000028360410121PW_BS0000283683601PW_BS0000283702601PW_BS000028228361PW_BS0000241192171PW_BS000119383751PW_BS0001003841251PW_BS000100390761PW_BS0001123911261PW_BS0001123987171PW_BS000113232403PW_BS000024406351PW_BS000115407251PW_BS000115408451PW_BS000115412125PW_BS000115405105PW_BS0001154151851PW_BS0001154141551PW_BS0001154251355PW_BS000115429151PW_BS00011512112171PW_BS0001214192551PW_BS00011543441051PW_BS0001153821451PW_BS0001001203171PW_BS0001203744171PW_BS0000534436171PW_BS0001154461217PW_BS0001153761017PW_BS00005344717171PW_BS00011513613171PW_BS000136448116171PW_BS00011545118171PW_BS00011545015171PW_BS00011546013175PW_BS0001154641171PW_BS00011545525171PW_BS000115469410171PW_BS00011539914171PW_BS0001134793101PW_BS0001154812101PW_BS0001154824101PW_BS0001154831110PW_BS0001154781010PW_BS00011548718101PW_BS00011549025101PW_BS0001154957101PW_BS00011548414101PW_BS00011548012101PW_BS000115501361PW_BS000115502461PW_BS000115208116PW_BS000024209106PW_BS0000245041861PW_BS0001155072561PW_BS00011551541061PW_BS0001153891461PW_BS0001123951361PW_BS0001135131761PW_BS000115231511PW_BS0000234573617PW_BS0001155723817PW_BS0003195293717PW_BS0001724732510177PW_BS00011537527171PW_BS00005344415171PW_BS0001154701517PW_BS00011513817PW_BS0001385492172PW_BS0001755521117PW_BS000175462910176PW_BS00011555310174PW_BS00017555510173PW_BS00017540010171PW_BS00011346511171PW_BS000115174PW_B00017444310964ProteinComplex144426Compound126AldosteroneHMDB0000037Aldosterone is a steroid hormone produced by the adrenal cortex in the adrenal gland to regulate sodium and potassium balance in the blood. Specifically it regulates electrolyte and water balance by increasing the renal retention of sodium and the excretion of potassium. It is synthesized from cholesterol by aldosterone synthase, which is absent in other sections of the adrenal gland. It is the sole endogenous member of the class of mineralocorticoids. Aldosterone increases the permeability of the apical (luminal) membrane of the kidney's collecting ducts to potassium and sodium and activates their basolateral Na+/K+ pumps, stimulating ATP hydrolysis, reabsorbing sodium (Na+) ions and water into the blood, and excreting potassium (K+) ions into the urine.52-39-1C017802475842527584ALDOSTERONE24774738C[C@]12CCC(=O)C=C1CCC1C3CC[C@H](C(=O)CO)[C@]3(C[C@H](O)C21)C=OC21H28O5InChI=1S/C21H28O5/c1-20-7-6-13(24)8-12(20)2-3-14-15-4-5-16(18(26)10-22)21(15,11-23)9-17(25)19(14)20/h8,11,14-17,19,22,25H,2-7,9-10H2,1H3/t14?,15?,16-,17+,19?,20+,21-/m1/s1PQSUYGKTWSAVDQ-SRPWZAMTSA-N(2R,14S,15R,17S)-17-hydroxy-14-(2-hydroxyacetyl)-2-methyl-5-oxotetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadec-6-ene-15-carbaldehyde360.444360.193674006-3.392(2R,14S,15R,17S)-17-hydroxy-14-(2-hydroxyacetyl)-2-methyl-5-oxotetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadec-6-ene-15-carbaldehyde00FDB021883(+)-aldosterone;(11b)-11,21-dihydroxy-3,20-dioxo-pregn-4-en-18-al;(11beta)-11,21-dihydroxy-3,20-dioxo-pregn-4-en-18-al;11,21-dihydroxy-3,20-dioxopregn-4-en-18-al;11-hydroxy-17-(2-hydroxyacetyl)-10-methyl-3-oxo-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-13-carbaldehyde;11b,21-dihydroxy-3,20-dioxo-pregn-4-en-18-al;11beta,21-dihydroxy-3,20-diketo-4-pregnen-18-al;11beta,21-dihydroxy-3,20-diketopregn-4-ene-18-al;11beta,21-dihydroxy-3,20-dioxo-pregn-4-en-18-al;11beta,21-dihydroxypregn-4-ene-3,18,20-trione;18-formyl-11beta,21-dihydroxy-4-pregnene-3,20-dione;18-oxocorticosterone;Aldocorten;Aldocortene;Aldocortin;Aldosterone;Aldosteronum;D-aldosterone;Electrocortin;Elektrocortin;Reichstein x;Delta-aldosteronePW_C000026Aldostr217482654232962778961111121800122124352135374Chloride ionHMDB0000492Under standard conditions, chlorine exists as a diatomic molecule. Chlorine is a highly toxic, pale yellow-green gas that has a specific strong smell. In nature, chlorine is most abundant as a chloride ion. Physiologically, this it. exists as an ion in the body. The chloride ion is an essential anion that the body needs for many critical functions. It also helps keep the body's acid-base balance. The amount of chloride in the blood is carefully controlled by the kidneys. Chloride ions have important physiological roles. For instance, in the central nervous system, the inhibitory action of glycine and some of the action of GABA relies on the entry of Cl- into specific neurons. Also, the chloride-bicarbonate exchanger biological transport protein relies on the chloride ion to increase the blood's capacity of carbon dioxide, in the form of the bicarbonate ion. Chloride-transporting proteins (CLC) play fundamental roles in many tissues in the plasma membrane as well as in intracellular membranes. CLC proteins form a gene family that comprises nine members in mammals, at least four of which are involved in human genetic diseases. GABA(A) receptors are pentameric complexes that function as ligand-gated chloride ion channels. WNK kinases are a family of serine-threonine kinases that have been shown to play an essential role in the regulation of electrolyte homeostasis, and they are found in diverse epithelia throughout the body that are involved in chloride ion flux. Cystic fibrosis (CF) is caused by alterations in the CF transmembrane conductance regulator (CFTCR) gene that result in deranged sodium and chloride ion transport channels. (PMID: 17539703, 17729441, 17562499, 15300163) (For a complete review see Evans, Richard B. Chlorine: state of the art. Lung (2005), 183(3), 151-167. PMID: 16078037).16887-00-6C0069831217996CPD-4521306[Cl-]ClInChI=1S/ClH/h1H/p-1VEXZGXHMUGYJMC-UHFFFAOYSA-Mchloride35.45334.9688527070chloride-1-1FDB006557Bertholite;Chloor;Chlor;Chlore;Chloride;Chloride ion;Chlorine;Chlorine gas;Cl;Cl2;Diatomic chlorine;Dichlorine;Molecular chlorine;Chloride(1-);Chlorine anion;Cl(-)PW_C000374Cl209115209222958513149833162934377728219078909114122371409124925137458SodiumHMDB0000588Sodium ions are necessary for regulation of blood and body fluids, transmission of nerve impulses, heart activity, and certain metabolic functions. Physiologically, it exists as an ion in the body. Sodium is needed by animals, which maintain high concentrations in their blood and extracellular fluids, but the ion is not needed by plants. The human requirement for sodium in the diet is less than 500 mg per day, which is typically less than a tenth as much as many diets "seasoned to taste." Most people consume far more sodium than is physiologically needed. For certain people with salt-sensitive blood pressure, this extra intake may cause a negative effect on health.17341-25-2C0133092329101899[Na+]NaInChI=1S/Na/q+1FKNQFGJONOIPTF-UHFFFAOYSA-Nsodium(1+) ion22.989822.9897696750sodium(1+) ion11FDB003523Sodium;Sodium ion;Na(+);Na+PW_C000458Na+209315209422724602725613157713158723185743615514607858601055861107586210871491877150188423373184233831578239353782433267824935279047132122389436122390437122635416122636124124942472124946452124960471125209118457PotassiumHMDB0000586Potassium is an essential electrolyte. Potassium balance is crucial for regulating the excitability of nerves and muscles and so critical for regulating contractility of cardiac muscle. Although the most important changes seen in the presence of deranged potassium are cardiac, smooth muscle is also affected with increasing muscle weakness, a feature of both hyperkalaemia and hypokalaemia. Physiologically, it exists as an ion in the body. Potassium (K+) is a positively charged electrolyte, cation, which is present throughout the body in both intracellular and extracellular fluids. The majority of body potassium, >90%, are intracellular. It moves freely from intracellular fluid (ICF) to extracellular fluid (ECF) and vice versa when adenosine triphosphate increases the permeability of the cell membrane. It is mainly replaced inside or outside the cells by another cation, sodium (Na+). The movement of potassium into or out of the cells is linked to certain body hormones and also to certain physiological states. Standard laboratory tests measure ECF potassium. Potassium enters the body rapidly during food ingestion. Insulin is produced when a meal is eaten; this causes the temporary movement of potassium from ECF to ICF. Over the ensuing hours, the kidneys excrete the ingested potassium and homeostasis is returned. In the critically ill patient, suffering from hyperkalaemia, this mechanism can be manipulated beneficially by administering high concentration (50%) intravenous glucose. Insulin can be added to the glucose, but glucose alone will stimulate insulin production and cause movement of potassium from ECF to ICF. The stimulation of alpha receptors causes increased movement of potassium from ICF to ECF. A noradrenaline infusion can elevate serum potassium levels. An adrenaline infusion, or elevated adrenaline levels, can lower serum potassium levels. Metabolic acidosis causes a rise in extracellular potassium levels. In this situation, excess of hydrogen ions (H+) are exchanged for intracellular potassium ions, probably as a result of the cellular response to a falling blood pH. Metabolic alkalosis causes the opposite effect, with potassium moving into the cells. (PMID: 17883675).24203-36-9C0023881329103K%2b791DB01345[K+]KInChI=1S/K/q+1NPYPAHLBTDXSSS-UHFFFAOYSA-Npotassium(1+) ion39.098338.9637068610potassium(1+) ion11FDB003521K+;Kalium;Potassium;Potassium (k+);Potassium (ion);Potassium cation;Potassium ion;Potassium ion (k+);Potassium ion (k1+);Potassium ion(+);Potassium ion(1+);Potassium monocation;Potassium(+);Potassium(1+);Potassium(1+) ion;Potassium(i) cation;K(+)PW_C000457K+57389311919262209515303366316172316271361351361461592114759521516902160118101981522230677023225771151327761011178241326782463531204841221211981241231051351237681181249444521249494721258602971259652991273222051274213881420WaterHMDB0002111Water is a chemical substance that is essential to all known forms of life. It appears colorless to the naked eye in small quantities, though it is actually slightly blue in color. It covers 71% of Earth's surface. Current estimates suggest that there are 1.4 billion cubic kilometers (330 million m3) of it available on Earth, and it exists in many forms. It appears mostly in the oceans (saltwater) and polar ice caps, but it is also present as clouds, rain water, rivers, freshwater aquifers, lakes, and sea ice. Water in these bodies perpetually moves through a cycle of evaporation, precipitation, and runoff to the sea. Clean water is essential to human life. In many parts of the world, it is in short supply. From a biological standpoint, water has many distinct properties that are critical for the proliferation of life that set it apart from other substances. It carries out this role by allowing organic compounds to react in ways that ultimately allow replication. All known forms of life depend on water. Water is vital both as a solvent in which many of the body's solutes dissolve and as an essential part of many metabolic processes within the body. Metabolism is the sum total of anabolism and catabolism. In anabolism, water is removed from molecules (through energy requiring enzymatic chemical reactions) in order to grow larger molecules (e.g. starches, triglycerides and proteins for storage of fuels and information). In catabolism, water is used to break bonds in order to generate smaller molecules (e.g. glucose, fatty acids and amino acids to be used for fuels for energy use or other purposes). Water is thus essential and central to these metabolic processes. Water is also central to photosynthesis and respiration. Photosynthetic cells use the sun's energy to split off water's hydrogen from oxygen. Hydrogen is combined with CO2 (absorbed from air or water) to form glucose and release oxygen. All living cells use such fuels and oxidize the hydrogen and carbon to capture the sun's energy and reform water and CO2 in the process (cellular respiration). Water is also central to acid-base neutrality and enzyme function. An acid, a hydrogen ion (H+, that is, a proton) donor, can be neutralized by a base, a proton acceptor such as hydroxide ion (OH-) to form water. Water is considered to be neutral, with a pH (the negative log of the hydrogen ion concentration) of 7. Acids have pH values less than 7 while bases have values greater than 7. Stomach acid (HCl) is useful to digestion. However, its corrosive effect on the esophagus during reflux can temporarily be neutralized by ingestion of a base such as aluminum hydroxide to produce the neutral molecules water and the salt aluminum chloride. Human biochemistry that involves enzymes usually performs optimally around a biologically neutral pH of 7.4. (Wikipedia).7732-18-5C0000196215377937OH2OInChI=1S/H2O/h1H2XLYOFNOQVPJJNP-UHFFFAOYSA-Nwater18.015318.0105646861water00FDB013390Dihydrogen oxide;Steam;[oh2];Acqua;Agua;Aqua;Bound water;Dihydridooxygen;Eau;H2o;Hoh;Hydrogen hydroxide;WasserPW_C001420H2O5589491095139415131621448113526156242865210691207703382318838210943113774914655415904320182425322226786027274627781728052931437031647236346145983647273749419350302751567519597521410052279452361035297105531911153431135355112540211054701235483125549212655071275534130553711455411295591135560811856221085691657591405778101584114358531465877107589095591014759401516032155605915760871616123163613315962151621816664771786507180660015267131176840188688816071622057181207719320672112117228213723821472432157295198735021673882107401212746722274922247500190758817082012258237226841416292652611850277119221641201128112213285122502861226428712327249125202271263265126932901270529112715292130072981301930013025301130373021326122313327294153403084232731542695318436913227691429377019253771021327713113377215134773783317739733277471333775161157753633477628336777223377775934177816343779823477807132978235352782423537827035679113360800143688003937080591228806561199383038394794384110557390110639391115844398119879232119915122119963406120008407120046408120113124120365412120430405120438409120606415120794414121158425121240429121351121121381419121607434122118382122384436122753120122797374122804443123012446123064376123072137123131447123142136123162448123231451123384450123730460123810464123940455124165469124670399124938471124945472125305297125353479125386481125424482125480299125682483125707478125745487126054490126238495126273484126764480126896501126963502127017388127177208127199209127227504127506507127576515127836389128082395128176513200UreaHMDB0000294Urea is a highly soluble organic compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea is formed in a cyclic pathway known simply as the urea cycle. In this cycle, amino groups donated by ammonia and L-aspartate are converted to urea. Urea is essentially a waste product; it has no physiological function. It is dissolved in blood (in humans in a concentration of 2.5 - 7.5 mmol/liter) and excreted by the kidney in the urine. In addition, a small amount of urea is excreted (along with sodium chloride and water) in human sweat.57-13-6C00086117616199UREA1143DB03904NC(N)=OCH4N2OInChI=1S/CH4N2O/c2-1(3)4/h(H4,2,3,4)XSQUKJJJFZCRTK-UHFFFAOYSA-Nurea60.055360.032362760.842urea00FDB012174Arf;Alphadrate;B-i-k;Bromisovalum;Bubber shet;Calmurid;Calmurid hc;Carbaderm;Carbamide;Carbamide resin;Carbonyl diamide;Carbonyl diamine;Carbonyldiamide;Carbonyldiamine;Carmol;Helicosol;Hyanit;Isourea;Keratinamin;Keratinamin kowa;Mocovina;Onychomal;Panafil;Ure;Urea;Ureaphil;Ureophil;Beta-i-k;E927b;H2nc(o)nh2;Harnstoff;Karbamid;Ur;UreePW_C000200Urea4728750526071526082575610811879198426303157749311177801334120400122120587408123043135123215374125727482127210502463Hydrogen carbonateHMDB0000595Bicarbonate, or hydrogen carbonate, is a simple single carbon molecule that plays surprisingly important roles in diverse biological processes. Among these are photosynthesis, the Krebs cycle, whole-body and cellular pH regulation, and volume regulation. Since bicarbonate is charged it is not permeable to lipid bilayers. Mammalian membranes thus contain bicarbonate transport proteins to facilitate the specific transmembrane movement of HCO3(-). Bicarbonate ion is an anion that consists of one central carbon atom surrounded by three oxygen atoms in a trigonal planar arrangement, with a hydrogen atom attached to one of the oxygens. The bicarbonate ion carries a negative one formal charge and is the conjugate base of carbonic acid, H2CO3. The carbonate radical is an elusive and strong one-electron oxidant. Bicarbonate in equilibrium with carbon dioxide constitutes the main physiological buffer. The bicarbonate-carbon dioxide pair stimulates the oxidation, peroxidation and nitration of several biological targets. The demonstration that the carbonate radical existed as an independent species in aqueous solutions at physiological pH and temperature renewed the interest in the pathophysiological roles of this radical and related species. The carbonate radical has been proposed to be a key mediator of the oxidative damage resulting from peroxynitrite production, xanthine oxidase turnover and superoxide dismutase1 peroxidase activity. The carbonate radical has also been proposed to be responsible for the stimulatory effects of the bicarbonate-carbon dioxide pair on oxidations mediated by hydrogen peroxide/transition metal ions. The ultimate precursor of the carbonate radical anion being bicarbonate, carbon dioxide, peroxymonocarbonate or complexes of transition metal ions with bicarbonate-derived species remains a matter of debate. The carbonate radical mediates some of the pathogenic effects of peroxynitrite. The carbonate radical as the oxidant produced from superoxide dismutase (EC 1.15.1.1, SOD1) peroxidase activity. Peroxymonocarbonate is a biological oxidant, whose existence is in equilibrium with hydrogen peroxide and bicarbonate. (PMID: 17505962, 17215880).71-52-3C0028876917544HCO3749OC([O-])=OCHO3InChI=1S/CH2O3/c2-1(3)4/h(H2,2,3,4)/p-1BVKZGUZCCUSVTD-UHFFFAOYSA-Mcarbonic acid61.016860.9925688980.572carbonic acid0-1FDB022134Bicarbonate;Bicarbonate (hco3-);Bicarbonate anion;Bicarbonate ion;Bicarbonate ion (hco31-);Bicarbonate ions;Carbonate;Carbonate (hco31-);Carbonate ion (hco31-);Carbonic acid;Hydrocarbonate(1-);Hydrogen carbonate;Hydrogen carbonate (hco3-);Hydrogen carbonate anion;Hydrogen carbonate ion;Hydrogen carbonate ion (hco3-);Hydrogencarbonate;Hydrogentrioxocarbonate;Monohydrogen carbonate;[co2(oh)](-);Acid carbonate;Hco3(-);Hydrogen carbonic acid;Acid carbonic acid;Bicarbonic acid;Bicarbonic acid ionPW_C000463HCO32241687823933239722613153145705391103544512055711336049155611016164941787482222909222477959112786301327876211180029368119993406121209407121436122121557124123779119123994135124115118125372479126059297126360299126541481126914501127511205127922388128114206448L-CysteineHMDB0000574Cysteine is a naturally occurring, sulfur-containing amino acid that is found in most proteins, although only in small quantities. Cysteine is unique amongst the twenty natural amino acids as it contains a thiol group. Thiol groups can undergo oxidation/reduction (redox) reactions; when cysteine is oxidized it can form cystine, which is two cysteine residues joined by a disulfide bond. This reaction is reversible since the reduction of this disulphide bond regenerates two cysteine molecules. The disulphide bonds of cystine are crucial to defining the structures of many proteins. Cysteine is often involved in electron-transfer reactions, and help the enzyme catalyze its reaction. Cysteine is also part of the antioxidant glutathione. N-Acetyl-L-cysteine (NAC) is a form of cysteine where an acetyl group is attached to cysteine's nitrogen atom and is sold as a dietary supplement. Cysteine is named after cystine, which comes from the Greek word kustis meaning bladder (cystine was first isolated from kidney stones). Oxidation of cysteine can produce a disulfide bond with another thiol and further oxidation can produce sulphfinic or sulfonic acids. The cysteine thiol group is also a nucleophile and can undergo addition and substitution reactions. Thiol groups become much more reactive when they are ionized, and cysteine residues in proteins have pKa values close to neutrality, so they are often in their reactive thiolate form in the cell. The thiol group also has a high affinity for heavy metals and proteins containing cysteine will bind metals such as mercury, lead, and cadmium tightly. Due to this ability to undergo redox reactions, cysteine has antioxidant properties. Cysteine is an important source of sulfur in human metabolism, and although it is classified as a non-essential amino acid, cysteine may be essential for infants, the elderly, and individuals with certain metabolic disease or who suffer from malabsorption syndromes. Cysteine may at some point be recognized as an essential or conditionally essential amino acid (Wikipedia). Cysteine is important in energy metabolism. As cystine, it is a structural component of many tissues and hormones. Cysteine has clinical uses ranging from baldness to psoriasis to preventing smoker's hack. In some cases, oral cysteine therapy has proved excellent for treatment of asthmatics, enabling them to stop theophylline and other medications. Cysteine also enhances the effect of topically applied silver, tin, and zinc salts in preventing dental cavities. In the future, cysteine may play a role in the treatment of cobalt toxicity, diabetes, psychosis, cancer, and seizures (http://www.dcnutrition.com/AminoAcids/).52-90-4C00097586217561CYS5653DB00151N[C@@H](CS)C(O)=OC3H7NO2SInChI=1S/C3H7NO2S/c4-2(1-7)3(5)6/h2,7H,1,4H2,(H,5,6)/t2-/m0/s1XUJNEKJLAYXESH-REOHCLBHSA-N(2R)-2-amino-3-sulfanylpropanoic acid121.158121.019749163-0.723L-cysteine00DBMET00503FDB012678(+)-2-amino-3-mercaptopropionic acid;(2r)-2-amino-3-mercaptopropanoate;(2r)-2-amino-3-mercaptopropanoic acid;(2r)-2-amino-3-sulfanylpropanoate;(2r)-2-amino-3-sulfanylpropanoic acid;(r)-(+)-cysteine;(r)-2-amino-3-mercaptopropanoate;(r)-2-amino-3-mercaptopropanoic acid;(r)-2-amino-3-mercapto-propanoate;(r)-2-amino-3-mercapto-propanoic acid;(r)-cysteine;2-amino-3-mercaptopropanoate;2-amino-3-mercaptopropanoic acid;2-amino-3-mercaptopropionate;2-amino-3-mercaptopropionic acid;3-mercapto-l-alanine;Acetylcysteine;B-mercaptoalanine;Carbocysteine;Cisteina;Cisteinum;Cystein;Cysteine;Cysteinum;Free cysteine;Half-cystine;L cysteine;L-(+)-cysteine;L-2-amino-3-mercaptopropanoate;L-2-amino-3-mercaptopropanoic acid;L-2-amino-3-mercaptopropionic acid;L-cystein;L-cysteine;Polycysteine;Thioserine;Alpha-amino-beta-thiolpropionic acid;Beta-mercaptoalanine;C;Cys;E920;L-zystein;(2r)-2-amino-3-sulphanylpropanoate;(2r)-2-amino-3-sulphanylpropanoic acid;L-2-amino-3-mercaptopropionatePW_C000448Cys17481867228649287015576710158011086756117675910770781887496224759416082562278260225120122811226915142651315437303227777811177795113777961328070413512012512212013112412058012612286311812321044312549129712549829912702920512703538832Organic AnionCompoundPW_EC00003225696ChEBIOA39Organic CationCompoundPW_EC00003925697ChEBIOC5L-Amino acidCompound105CompoundPW_EC00000515705ChEBILAA50Large Neutral Amino AcidsCompound105CompoundPW_EC00005033709ChEBILNAA51Imino acidsCompoundPW_EC00005126271ChEBIIA20246Solute carrier family 12 member 3P55018
Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption (PubMed:8021284). Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2, either independently of IL18R1, or as a complex with IL18R1 (By similarity).
Slc12a31713417037620250Chloride channel protein ClC-KaP97709
Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms.
Clcnka1713417145720285Amiloride-sensitive sodium channel subunit alphaQ9QUI4
Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells (PubMed:8382172). Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception (By similarity).
Scnn1a1713417237620291Amiloride-sensitive sodium channel subunit betaO09183
Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.
Scnn1b1713417937620295Amiloride-sensitive sodium channel subunit gammaP37091
Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.
Scnn1g1713417357213418037620300Excitatory amino acid transporter 3Q9JJP8
Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:9011753, PubMed:11242046). Can also transport L-cysteine. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport. Plays an important role in L-glutamate and L-aspartate reabsorption in renal tubuli (By similarity). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity). Negatively regulated by ARL6IP5 (PubMed:11242046).
Slc1a11720303Large neutral amino acids transporter small subunit 2Q9WVR6
Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney.
Slc7a817203084F2 cell-surface antigen heavy chainQ794F9
Required for the function of light chain amino-acid transporters. Involved in sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with SLC7A6 or SLC7A7 acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Required for normal and neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. When associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1, regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating blood to the retina across the inner blood-retinal barrier. When associated with LAPTM4B, recruits SLC3A2 and SLC7A5 to lysosomes to promote leucine uptake into these organelles and is required for mTORC1 activation (By similarity).
Slc3a21719689Large neutral amino acids transporter small subunit 1Q9QWL4
Sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Involved in cellular amino acid uptake. Acts as an amino acid exchanger. Involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane. Plays a role in neuronal cell proliferation (neurogenesis) in brain. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Mediates blood-to-retina L-leucine transport across the inner blood-retinal barrier which in turn may play a key role in maintaining large neutral amino acids as well as neurotransmitters in the neural retina. Acts as the major transporter of tyrosine in fibroblasts. When associated with LAPTM4B, recruits SLC3A2 and SLC7A5 to lysosomes to promote leucine uptake into these organelles and is required for mTORC1 activation (By similarity).
Slc7a51720316Sodium- and chloride-dependent transporter XTRP3Q64093
Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids.
Slc6a201713417457216103Sodium-coupled neutral amino acid transporter 4Q9EQ25
Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by Ser, Gly, Cys, Asn, Thr, Pro and Met. May mediate sodium-independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH-dependent, with lower transport activities at pH 6.5, intermediate at pH 7.0 and highest between pH 7.5 and 8.5.
Slc38a41712373737620320Y+L amino acid transporter 1Q9QZ66
Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis via transport of L-arginine, and is involved in the transport of L-arginine in monocytes (By similarity).
Slc7a71713417552920331Neutral and basic amino acid transport protein rBATQ62672
Involved in the high-affinity sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney proximal tubule.
Slc3a11713417645720335b(0,+)-type amino acid transporter 1Q4KM04
Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney proximal tubule.
Slc7a91713417757220339Urea transporter 2Q9Z2R3
Specialized low-affinity vasopressin-regulated urea transporter. Mediates rapid transepithelial urea transport across the inner medullary collecting duct and plays a major role in the urinary concentrating mechanism. Vasopressin regulates urea transport by increasing isoform 1 accumulation in the plasma membrane and/or phosphorylation of isoform 1.
Slc14a21713417857217310Sodium/potassium-transporting ATPase subunit alpha-1Q64609
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.
Atp1a1173.6.3.912495047313418137617313Sodium/potassium-transporting ATPase subunit alpha-2P06686
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.
Atp1a2173.6.3.912495147313418237617316Sodium/potassium-transporting ATPase subunit alpha-3Q9Z1G6
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.
Atp1a3173.6.3.912495247313418337617318Sodium/potassium-transporting ATPase subunit alpha-4Q64541
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.
Atp1a4173.6.3.912495347313418437617319Sodium/potassium-transporting ATPase subunit beta-1Q63062
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.
Atp1b11712495447313418537617323Sodium/potassium-transporting ATPase subunit beta-2P13638
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.
Atp1b21712495547313418637617326Sodium/potassium-transporting ATPase subunit beta-3Q63377
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.
Atp1b3171249564731341873767758UnknownUnknown173.1.1.1, 3.1.1.565435118546012080644375806551358066637612380844312381146412495747312497012112526039813193744413198347013225411913225752913226045713260513713260744713260913813261013613261245213261654913262155213262246213262355313262455513314340013538546517327Sodium/potassium-transporting ATPase subunit gammaQ9WUD3
May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase.
Fxyd21712495847313418837620326Mineralocorticoid receptorQ64174
Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels.
Nr3c21713418944420677Chloride intracellular channel protein 2Q5M883
Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx (By similarity).
Clic21710964Active Mineralocorticoid receptor17PW_P010964195387758210968Solute carrier family 12 member 317PW_P01096819542775811705Chloride channel protein ClC-Ka17PW_P011705209192025010960Epithelial Sodium Channel17PW_P01096019531775819532775819533775819534775811711Excitatory amino acid transporter 317PW_P011711209252030011712SLC3A2/4F2hc Large neutral amino acids transporter small subunit 217PW_P0117122092620303209272030811713SLC3A2/4F2hc Large neutral amino acids transporter small subunit 117PW_P0117132092819689209292030811714Sodium- and chloride-dependent transporter XTRP317PW_P011714209302031611715Sodium-coupled neutral amino acid transporter 417PW_P011715209311610311716SLC3A2/4F2hc Y+L amino acid transporter 117PW_P0117162093220320209332030811717SLC3A2/4F2hc Y+L amino acid transporter 217PW_P0117172093420320209352030811719Neutral and basic amino acid transport protein rBAT/B(0,+)-type amino acid transporter 117PW_P0117192093720331209382033511718Urea transporter 217PW_P011718209362033919387Sodium/potassium ATPase17PW_P0093871765517310176561731317657173161765817318176591731917660173231766117326176627758176631732711706Chloride intracellular channel protein 217PW_P0117062092020677110993Voltage-gated sodium channel 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TUBULE505395201.01.01601544905615LUMEN695415201.01.01601544905715INTERSTITIUM1520415201.01.01601544905815BLADDER6702065201.01.01601544905915DISTAL CONVOLUTED TUBULE25951425201.01.01601544906015LUMEN27201495201.01.01601544906115INTERSTITIUM15801730201.01.01601544906215DESCENDING LIMB OF LOOP OF HENLE5001700201.01.01601544906315LUMEN6801790201.01.01601544906415INTERSTITIUM26052280201.01.01601544906515THICK ASCENDING LIMB OF LOOP OF HENLE15602260201.01.01601544906615LUMEN16552310201.01.01601544906715LUMEN2595465201.01.01601544906815INTERSTITIUM3720435201.01.01601544906915COLLECTING TUBULE2595415201.01.01601544907015INTERSTITIUM37251385201.01.01601544907115Nucleus4753645201.01.01601518011913118448745362117544314430180120179810486387184616723941360128518012117918104861694184822453941362551180122116226421548226928083127394126085818012322371419256413703931210839413677381801242212782256442439311351394136792718012528327742103075145543314412451256Hartnup DisorderHartunup Disorder (HND, Hartnup Disease) is an autosomal recessive disease caused by a mutation in the SLC6A19 which codes for sodium-dependent neutral amino acid transporter B(0). A deficiency in this enzyme results in accumulation of L-alanine, L-asparagine, L-histidine, indoleacetic acid, L-isoleucine, L-leucine, L-phenylalanine, L-serine, L-threonine, L-tryptophan, L-valine, and L-tyrosine in urine. Symptoms include pellagra, psychosis, ataxia, and mental retardation. Treatment includes nicotinamide.DiseasePW_X009234CompleteContext9234500247758ProteinMutated500255ElementCollectionIncreased278176999542Tahmoush AJ, Alpers DH, Feigin RD, Armbrustmacher V, Prensky AL: Hartnup disease. Clinical, pathological, and biochemical observations. Arch Neurol. 1976 Dec;33(12):797-807.9234Context