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  • mutations
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Homozygotes for null mutations exhibit retarded growth, severe spherocytosis, hemolytic anemia, lack of erythrocyte glycophorin A, mitotic defects, and high postnatal mortality. (jax.org)
  • In human, many different mutations in SLC4A1 gene coding for AE1 have been reported [ 11 ]. (hindawi.com)
  • As this protein is also expressed in kidney, a renal phenotype can be associated with SLC4A1 mutations. (hindawi.com)
  • It appears that the SLC4A1 mutations can be divided into two classes according to the way they impair AE1 function: (1) those that prevent correct folding of the protein so that it is not addressed to plasma membrane. (hindawi.com)
  • Since the initial discovery that 5 point mutations in SLC4A1 gene (responsible for L687P, D705Y, S731P, H734R, or R760Q substitutions in AE1) were associated with increased red cell Na + and K + leak [ 20 ], 4 other point mutations associated with similar red cell phenotype have been reported (G796R, E758K, S762R, and R730C) [ 21 - 24 ]. (hindawi.com)
  • Mutations in this gene have been associated with congenital chloride diarrhoea, a treatable disease. (wikipedia.org)
  • Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. (creative-biolabs.com)
  • Mutations of kidney AE1 cause distal (type 1) renal tubular acidosis, which is an inability to acidify the urine, even if the blood is too acidic. (wikipedia.org)
  • These mutations are disease causing as they cause mistargetting of the mutant band 3 proteins so that they are retained within the cell or occasionally addressed to the wrong (i.e. apical) surface. (wikipedia.org)
  • Recently the disease has been linked to mutations in the band 3 protein, the anion-exchange protein (AE1). (haematologica.org)
  • 1 , 9 , 10 RBC from such patients generally have a partial band 3 deficiency and carry mutations within a transmembrane segment of band 3, which may cause the defect. (haematologica.org)
  • Comparing this structure with a substrate-bound structure of the uracil transporter UraA in an inward-facing conformation allowed identification of the likely anion-binding position in the AE1 (CTD), and led to proposal of a possible transport mechanism that could explain why selected mutations lead to disease. (wikipedia.org)
  • Again, it is thought that the mutations responsible (Ser731Pro and His734Gln) affect the normal folding of band 3 and convert the protein into a cation conductor. (haematologica.org)
  • M. pneumoniae is consequently very susceptible to loss of enzymatic function by gene mutations, as the only buffering systems against functional loss by point mutations are for maintenance of the pentose phosphate pathway and nucleotide metabolism. (wikipedia.org)
  • Regulation
  • Nitirc Oxide and Cell Signaling: Redox Regulation of Ras Superfamily GTPases" Jongyun Heo and Sharon L. Campbell, in Nitric Oxide, Cell Signaling, and Gene Expression, Santiago Lamas and Enrique Cadenas, Eds. (uta.edu)
  • Some of the proteins in snake venom have very specific effects on various biological functions including blood coagulation, blood pressure regulation, and transmission of the nervous or muscular impulse, and have been developed for use as pharmacological or diagnostic tools, and even useful drugs. (wikipedia.org)
  • They are involved in regulation of kinases and phosphatases, G protein associated factors and transcriptional factors. (wikipedia.org)
  • Regulation of protein activity mainly involves phosphorylation/dephosphorylation events, leading to its activation or inhibition. (wikipedia.org)
  • ions
  • This type of transport is known as secondary active transport and is powered by the energy derived from the concentration gradient of the ions/molecules across the membrane the cotransporter protein is integrated within. (wikipedia.org)
  • This cycle of conformational changes only transports one substrate ion at a time, which results in a fairly slow transport rate (100 to 104 ions or molecules per second) when compared to other transport proteins like ion channels. (wikipedia.org)
  • 1 Red blood cells (RBC) from patients with CHC have increased membrane permeability to Na + and K + ions, which is particularly pronounced at 0°C. 1 - 6 In rare cases, these patients' RBC have a deficiency of stomatin accompanied by mental retardation, seizures, cataracts, and hepatosplenomegaly. (haematologica.org)
  • The transmembrane domain of band 3 is responsible for its anion exchange activity, transporting bicarbonate ions (produced from the carbon dioxide released from respiring tissues) out of the red cell in exchange for chloride ions, which allows the whole blood volume to be used for carriage of carbon dioxide. (haematologica.org)
  • The beginning of a new impulse: A) An exchange of ions (charged atoms) across the nerve cell membrane sends a depolarizing current towards the end of the nerve cell (cell terminus). (wikipedia.org)
  • Dendrotoxins: Dendrotoxins inhibit neurotransmissions by blocking the exchange of positive and negative ions across the neuronal membrane lead to no nerve impulse, thereby paralysing the nerves. (wikipedia.org)
  • The lipid bilayer is the barrier that keeps ions, proteins and other molecules where they are needed and prevents them from diffusing into areas where they should not be. (wikipedia.org)
  • Bilayers are particularly impermeable to ions, which allows cells to regulate salt concentrations and pH by transporting ions across their membranes using proteins called ion pumps. (wikipedia.org)
  • Biological membranes are impermeable to magnesium (and other ions), so transport proteins must facilitate the flow of magnesium, both into and out of cells and intracellular compartments. (wikipedia.org)
  • erythroid
  • We see no evidence that cotranscribed erythroid genes associate at shared transcription foci, but we do see stochastic clustering of active genes around common nuclear SC35-enriched speckles (hence the apparent nonrandom association between genes). (ox.ac.uk)
  • binds
  • MCT1 has a substrate binding site open to the extracellular matrix which binds a proton first followed by the lactate anion. (wikipedia.org)
  • 1997
  • Several guanine nucleotide exchange factors (GEFs, the dbl or DH family) have been identified as oncogenes because of their ability to upregulate Rho GTPase activity during malignant transformation ( Van Aelst and D'Souza-Schorey 1997 ). (rupress.org)
  • plasma membrane
  • In healthy erythrocytes, cell volume is regulated by the transport of cations (Na + and K + ), which are pumped across the plasma membrane to maintain the osmotic potential and keep the cell correctly hydrated. (haematologica.org)
  • If a typical mammalian cell (diameter ~10 micrometers) were magnified to the size of a watermelon (~1 ft/30 cm), the lipid bilayer making up the plasma membrane would be about as thick as a piece of office paper. (wikipedia.org)
  • cytoskeleton
  • The primary defect in SAO differs significantly from other forms of elliptocytosis in that it is a defect in the gene coding for a protein that is not directly involved in the cytoskeleton scaffolding of the cell. (wikipedia.org)
  • The lack of a cell wall also calls for increased support of the cell membrane(reinforced with sterols), which includes a rigid cytoskeleton composed of an intricate protein network and, potentially, an extracellular capsule to facilitate adherence to the host cell. (wikipedia.org)
  • receptors
  • In the first one, first messenger cross through the cell membrane, binding and activating intracellular receptors localized at nucleus or cytosol, which then act as transcriptional factors regulating directly gene expression. (wikipedia.org)
  • Therefore, there are four main transmembrane receptor types: G protein coupled receptors (GPCRs), tyrosine kinase receptors (RTKs), serine/threonine kinase receptors (RSTKs), and ligand-gated ion channels (LGICs). (wikipedia.org)
  • signal transduction
  • This molecule is largely hydrophilic and contains several functional domains found in signal transduction proteins. (rupress.org)
  • The cellular response in signal transduction cascades involves alteration of the expression of effector genes or activation/inhibition of targeted proteins. (wikipedia.org)
  • Expression
  • Protein Expression and Purification. (wikipedia.org)
  • The target gene of scFv (MOv19)-CD28-41BB-CD3ζ packaged in lentiviral particles could be used for high efficency tranduction of T cells and stably integrated expression. (creative-biolabs.com)
  • The precise mechanism of action is not yet clear, but it appears that hydroxycarbamide increases nitric oxide levels, causing soluble guanylyl cyclase activation with a resultant rise in cyclic GMP, and the activation of gamma globin gene expression and subsequent gamma chain synthesis necessary for fetal hemoglobin (HbF) production (which does not polymerize and deform red blood cells like the mutated HbS, responsible for sickle cell disease). (wikipedia.org)
  • On the other hand, the induction or repression of the expression of genes requires the binding of transcriptional factors to the regulatory sequences of these genes. (wikipedia.org)
  • The secondary messengers like DAG or Ca2+ could also induce or repress gene expression, via transcriptional factors. (wikipedia.org)
  • 1995
  • Guthrie N, Crandall IE, Marini S, et al (1995) Monoclonal antibodies that react with human band 3 residues 542-555 recognize different conformations of this protein in uninfected and Plasmodium falciparum infected erythrocytes. (springer.com)
  • Golan, DE (1 July 1995). (wikipedia.org)
  • 2000
  • Mycoplasma pneumoniae cells have an elongated shape that is approximately 0.1-0.2 µm (100-200 nm) in width and 1-2 µm (1000-2000 nm) in length. (wikipedia.org)
  • encode
  • M. pneumoniae are the only bacterial cells that possess cholesterol in their cell membrane (obtained from the host) and possess more genes that encode for membrane lipoprotein variations than other mycoplasmas, which are thought to be associated with its parasitic lifestyle. (wikipedia.org)
  • Biol
  • Mechanism of Redox-Mediated Guanine Nucleotide Exchange on Redox-Active Rho GTPases" Jongyun Heo and Sharon L. Campbell, J. Biol. (uta.edu)
  • Superoxide Anion Radical Modulates the Activity of Ras and Ras-Related GTPases by a Radical-Based Mechanism Similar to that of Nitric Oxide" Jongyun Heo and Sharon L. Campbell, J. Biol. (uta.edu)
  • situ
  • By replacing the mouse alpha-globin gene cluster in situ with its human counterpart, we demonstrate a direct effect of the regional chromatin environment on the frequency of association, whereas nascent transcription from the human alpha-globin gene appears unaffected. (ox.ac.uk)
  • extracellular
  • This section describes fluorescent indicators for intracellular and extracellular chloride together with an assortment of analytical reagents and methods for direct or indirect quantitation of other inorganic anions, including bromide, iodide, hypochlorite, cyanide,nitrite, nitrate, phosphate, pyrophosphate and selenide. (thermofisher.com)
  • intestinal
  • The downregulated-in-adenoma (DRA) is a membrane protein in intestinal cells. (wikipedia.org)
  • Therefore, the identification of soluble protein components of the invasive sporozoite stage functioning at the interface between E. maxima and host intestinal epithelial cells is crucial to understand the mechanism of parasite invasion and identify possible vaccine target. (biomedcentral.com)
  • Molecular
  • The results of Western blot analysis showed that four proteins bands from jejunal epithelial cells co-cultured with soluble proteins of E. maxima sporozoites were recognized by the positive sera, with molecular weights of 70, 90, 95 and 130 kDa. (biomedcentral.com)
  • cluster
  • Hydroxylamine Reductase Activity of the Hybrid Cluster Protein from Escherichia coli" Marcus T. Wolfe, Jongyun Heo, John S. Garavelli and Paul W. Ludden, J. Bacteriol. (uta.edu)
  • deletion
  • Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. (creative-biolabs.com)
  • Guanine Nucleot
  • Recognition and Activation of Rho GTPases By Vav1 and Vav2 Guanine Nucleotide Exchange Factors" Jongyun Heo, Roopa Thapar and Sharon L. Campbell, Biochemistry 2005, 44, 6573-6585. (uta.edu)
  • renal
  • In 2014, Lewis and Cook [ 2 ] proved that FQ-related tendinopathy is a complication of treatment with this family of antibiotics and it is usually linked with 1 or more synergistic factors: male sex, age, renal disease, rheumatic disease, coprescription of corticosteroid, and physical activity. (hindawi.com)
  • Mutations of kidney AE1 cause distal (type 1) renal tubular acidosis, which is an inability to acidify the urine, even if the blood is too acidic. (wikipedia.org)
  • conformation
  • The protein then undergoes a conformational change to a new 'closed'' conformation that exposes both the proton and lactate to the opposite surface of the membrane where they are released, lactate first and then the proton. (wikipedia.org)
  • In one conformation the protein will have the binding site (or sites in the case of symporters) exposed to one side of the membrane. (wikipedia.org)
  • Comparing this structure with a substrate-bound structure of the uracil transporter UraA in an inward-facing conformation allowed identification of the likely anion-binding position in the AE1 (CTD), and led to proposal of a possible transport mechanism that could explain why selected mutations lead to disease. (wikipedia.org)
  • lipids
  • Diabetes is characterized not only by hyperglycemia, but also by other metabolic derangements involving carbohydrates, lipids, and proteins ( 2 ). (diabetesjournals.org)
  • In some cases, the hydrated region can extend much further, for instance in lipids with a large protein or long sugar chain grafted to the head. (wikipedia.org)
  • transmembrane
  • The protein encoded by this gene is a transmembrane glycoprotein that functions as a sulfate transporter. (wikipedia.org)
  • Therefore, there are four main transmembrane receptor types: G protein coupled receptors (GPCRs), tyrosine kinase receptors (RTKs), serine/threonine kinase receptors (RSTKs), and ligand-gated ion channels (LGICs). (wikipedia.org)
  • Tissues
  • Elevated Post-Translational Modification of Proteins by O-Linked N-Acetylglucosamine in Various Tissues of Diabetic Goto-Kakizaki Rats Accompanied by Diabetic Complications", Acta Histochem. (freepatentsonline.com)
  • serum
  • The review addresses both patient- and physician/laboratory-based testing, and it includes tests of urine glucose and ketones and tests of blood glucose and glycated proteins (hemoglobin and serum proteins). (diabetesjournals.org)
  • comprises
  • Although the C-terminal domain comprises a small percentage of the size of the protein, this domain in some cases, has (i) binding motifs that may be important for protein-protein interactions (e.g. (wikipedia.org)
  • chromosome
  • Washington DC, USA ---------------------------------------------------------------------------- Description: Human chromosome 4: entries, gene names and cross-references to MIM Name: humchr04.txt Release: 2018_11 of 05-Dec-2018 ---------------------------------------------------------------------------- This documents lists all the human protein sequence entries whose genes are known to be encoded on chromosome 4 in this release of UniProtKB/Swiss-Prot. (uniprot.org)
  • transcription
  • However, they rely upon enzymes and proteins provided by the host for their successful transcription and replication. (qiagen.com)
  • This response is slower than the first because it involves more steps, like transcription of genes and then the effect of newly formed proteins in a specific target. (wikipedia.org)
  • molecules
  • Genomic DNA molecules are generally large, and in most organisms are organized into DNA-protein complexes called chromosomes. (qiagen.com)
  • facilitate
  • The lack of a cell wall also calls for increased support of the cell membrane(reinforced with sterols), which includes a rigid cytoskeleton composed of an intricate protein network and, potentially, an extracellular capsule to facilitate adherence to the host cell. (wikipedia.org)
  • compounds
  • Mucosal-associated invariant T (MAIT) cells recognize microbial compounds presented by the MHC-related 1 (MR1) protein. (jimmunol.org)
  • Mucosal-associated invariant T (MAIT) cells represent an abundant subset in human blood that recognizes microbial compounds presented by the nonclassical MHC-related 1 (MR1) molecule ( 1 , 2 ). (jimmunol.org)
  • Venoms contain more than 20 different compounds, mostly proteins and polypeptides. (wikipedia.org)
  • kidney
  • In mammals, it is present in two specific sites: the erythrocyte (red blood cell) cell membrane and the basolateral surface of the alpha-intercalated cell (the acid secreting cell type) in the collecting duct of the kidney. (wikipedia.org)
  • pumps
  • The metabolic apparatus that serves this function involves Ca2+ protein-based and non-proteinaceous channels, Ca2+ antiporters (Ca2+/2H+, Ca2+/Na+), and ATP-dependent Ca2+ pumps. (heavenforum.org)
  • chloride
  • Mutations in this gene have been associated with congenital chloride diarrhoea, a treatable disease. (wikipedia.org)
  • The congenital absence of this membrane protein results in an autosomal recessive disorder called congenital chloridorrhea or congenital chloride diarrhea (CLD). (wikipedia.org)
  • kAE1 exchanges bicarbonate for chloride on the basolateral surface, essentially returning bicarbonate to the blood. (wikipedia.org)
  • The bicarbonate is then excreted (in exchange for a chloride) from the cell by band 3. (wikipedia.org)
  • enzymatic
  • M. pneumoniae is consequently very susceptible to loss of enzymatic function by gene mutations, as the only buffering systems against functional loss by point mutations are for maintenance of the pentose phosphate pathway and nucleotide metabolism. (wikipedia.org)
  • Cell
  • Plasmids often contain genes that code for enzymes that can be advantageous to the host cell in some circumstances. (qiagen.com)
  • 6. The method of claim 1, wherein said hyperproliferative cell disease is a non-cancer hyperproliferative cell disease. (patentsencyclopedia.com)
  • The primary defect in SAO differs significantly from other forms of elliptocytosis in that it is a defect in the gene coding for a protein that is not directly involved in the cytoskeleton scaffolding of the cell. (wikipedia.org)
  • Rather, the defect lies in a protein known as the band 3 protein, which lies in the cell membrane itself. (wikipedia.org)
  • eAE1 is an important structural component of the erythrocyte cell membrane, making up to 25% of the cell membrane surface. (wikipedia.org)
  • AE1 was discovered following SDS-PAGE ( sodium dodecyl sulfate polyacrylamide gel electrophoresis ) of erythrocyte cell membrane. (wikipedia.org)
  • Their N-terminal hydrophilic domains may interact with cytoskeletal proteins and therefore play a cell structural role. (wikipedia.org)
  • The inability to synthesize a peptidoglycan cell wall is due to the absence of genes encoding its formation and results in an increased importance in maintenance of osmotic stability to avoid desiccation. (wikipedia.org)
  • enzymes
  • A complex mixture of proteins, enzymes, and various other substances with toxic and lethal properties serves to immobilize the prey animal, enzymes play an important role in the digestion of prey, and various other substances are responsible for important but non-lethal biological effects. (wikipedia.org)
  • Among hundreds, even thousands of proteins found in venom, there are toxins, neurotoxins in particular, as well as nontoxic proteins (which also have pharmacological properties), and many enzymes, especially hydrolytic ones. (wikipedia.org)
  • precursor
  • Research showed that alkylamine can coordinate with Pt2+ ion and form tetrakis(amine)platinate precursor and replace the original acac− ligand in Pt(acac)2, and oleic acid can further exchange with acac− and tune the formation kinetics of platinum nanoparticles. (wikipedia.org)