• Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. (wikipedia.org)
  • Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. (thermofisher.com)
  • Mutations in either alpha- and beta-spectrin are most commonly responsible, but mutations in other cytoskeletal proteins (band 4.1 and glycophorin) are also described. (medscape.com)
  • The most common group of mutations affect alpha- or beta-spectrin and result in defects in the formation of the spectrin heterodimer or in the association of the heterodimer with the lipid anchoring complex (formed by actin, band 3, protein 4.1 and glycophorin C). (medscape.com)
  • Most cases of hereditary elliptocytosis are the result of mutations of alpha spectrin or beta spectrin. (medscape.com)
  • Spectrin mutations cause spinocerebellar ataxia type 5. (putyourcolours.pl)
  • Identification of regions interacting with ovoD mutations: potential new genes involved in germline sex determination or differentiation in Drosophila melanogaster. (uchicago.edu)
  • Recent studies have revealed numerous mutations in the FLNC gene causing familial and sporadic myopathies and cardiomyopathies with marked clinical variability. (omicsdi.org)
  • Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. (wikipedia.org)
  • RESULTS: One hundred and ninety-eight key DEPs were identified, among which, albumin (ALB), alpha-II-spectrin (SPTAN1), and Ras-related C3 botulinum toxin substrate 2 (RAC2) were the three hub proteins present at the highest levels in the protein-protein interaction network that was generated based on the shared DEPs. (izon.com)
  • A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. (modellab.cn)
  • Actin binding domains present in duplicate at the N-termini of spectrin-like proteins (including dystrophin, alpha-actinin). (embl.de)
  • A number of actin-binding proteins, including spectrin, alpha-actinin and fimbrin, contain a 250 amino acid stretch called the actin binding domain (ABD). (embl.de)
  • Ankyrins link integral membrane proteins to the spectrin-based membrane skeleton. (dana-farber.org)
  • These results are consistent with the fact that human Merlin is encoded by the gene for the tumour suppressor neurofibromatosis-2 and is a member of the Ezrin-Radixin-Moesin family of proteins that link actin to transmembrane proteins. (ox.ac.uk)
  • Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. (utsouthwestern.edu)
  • The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. (utsouthwestern.edu)
  • Pleckstrin is one of the rare proteins to contains two PH domains. (embl.de)
  • Regulators of small G-proteins like guanine nucleotide releasing factor GNRP (Ras-GRF) (which contains 2 PH domains), guanine nucleotide exchange proteins like vav, dbl, SoS and Saccharomyces cerevisiae CDC24, GTPase activating proteins like rasGAP and BEM2/IPL2, and the human break point cluster protein bcr. (embl.de)
  • Cytoskeletal proteins such as dynamin (see IPR001401 ), Caenorhabditis elegans kinesin-like protein unc-104 (see IPR001752 ), spectrin beta-chain, syntrophin (2 PH domains) and S. cerevisiae nuclear migration protein NUM1. (embl.de)
  • His laboratory has followed two primary interests: 1) the transcription factor networks that regulate fate determination in various cells that make blood, and 2) the cell surface proteins expressed by hematopoietic stem cells that and allow them to communicate with their microenvironment. (ubc.ca)
  • Amplification of genes for chorion proteins during oogenesis in Drosophila melanogaster. (uchicago.edu)
  • Drosophila bearing the ocelliless mutation underproduce two major chorion proteins both of which map near this gene. (uchicago.edu)
  • Actin, Spectrin, and Associated Proteins Form a Periodic Cytoskeletal Structure in Axons. (shanghaitech.edu.cn)
  • Secondary structure analysis of the novel structural protein (NSP) isoforms revealed similarity to Spectrin like proteins containing coiled coil domains [1]. (oncotarget.com)
  • Expression levels of cytoskeletal proteins indicate pathological aging of S100B transgenic mice: an immunohistochemical study of MAP-2, drebrin and GAP-43. (tamu.edu)
  • Quantitative and functional abnormalities of certain RBC membrane proteins (alpha- and beta-spectrin, protein 4.1, F-actin, ankyrin) cause hemolytic anemias. (msdmanuals.com)
  • Each single ABD, comprising two CH domains, is able to bind one actin monomer in the filament. (embl.de)
  • Hereditary elliptocytosis can result from defects of alpha or beta spectrin or from a defective spectrin-actin-protein 4.1R junctional complex. (medscape.com)
  • Spectrin is present in the red cell membrane in a tetrameric or possibly higher polymeric form through head-to-head self-association of heterodimers that are linked by actin polymers and protein 4.1 to form a 2-dimensional network. (putyourcolours.pl)
  • The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. (utsouthwestern.edu)
  • We propose a model in which a postsynaptic Spectrin-actin lattice acts as an organizing scaffold upon which pre- and postsynaptic development are arranged. (rupress.org)
  • FLNC consists of a N-terminal actin-binding domain followed by 24 immunoglobulin-like repeats with two intervening calpain-sensitive hinges separating R15 and R16 (hinge 1) and R23 and R24 (hinge-2). (omicsdi.org)
  • Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. (thermofisher.com)
  • It is composed of two antiparallel dimers of alpha- and beta- subunits. (modellab.cn)
  • Spectrin tetramers form a large part of the cytoskeletal framework and are composed of heterodimers of alpha and beta subunits. (medscape.com)
  • It consists of 2 nonidentical subunits, alpha and beta. (putyourcolours.pl)
  • Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. (utsouthwestern.edu)
  • Heterodimers consisting of alpha and gamma subunits have also been described. (utsouthwestern.edu)
  • Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. (nih.gov)
  • Our laboratory focuses on the organization and functions of the spectrin-based membrane skeleton. (dana-farber.org)
  • Description: Spectrin, the predominant component of the membrane skeleton of the red cell, is essential in determining the properties of the membrane including its shape and deformability. (putyourcolours.pl)
  • In this study, we document a role for the postsynaptic Spectrin skeleton in this process. (rupress.org)
  • Although Ankyrin is not required for the localization of the Spectrin skeleton to the neuromuscular junction, it contributes to Spectrin-mediated synapse development. (rupress.org)
  • The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. (wikipedia.org)
  • 4) A heterozygous patient with a -spectrin anomaly ( -spectrin Nagoya) with the frameshift mutation of SPTB. (forexsignal300.com)
  • 1992). "A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. (wikipedia.org)
  • It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. (wikipedia.org)
  • The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. (thermofisher.com)
  • It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). (thermofisher.com)
  • Spectrin is the major component of this scaffold and consists of 2 chains, alpha and beta, which are encoded by separate genes and which are twisted together to form an elongated heterodimer. (medscape.com)
  • Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. (utsouthwestern.edu)
  • Developmental genetics of the 2E-F region of the Drosophila X chromosome: a region rich in "developmentally important" genes. (uchicago.edu)
  • These regulators include canonical genes that control lipid metabolism as well as genes involved in ubiquitination, transcription, and mitochondrial function. (stanford.edu)
  • We sequenced the worm's ~ 688-Mb haploid genome with an overall completeness of ~ 95% and discovered that L. luymesi lacks many genes essential in amino acid biosynthesis, obligating them to products provided by symbionts. (biomedcentral.com)
  • A crystal structure of the spectrin tetramerization domain complex has been determined, and information gleaned from studying it is expected to further elucidate the molecular basis of hereditary hemolytic anemias. (medscape.com)
  • Src homology 2 (SH2)-containing 5'-inositol phosphatase localizes to podosomes, and the SH2 domain is implicated in the attenuation of bone resorption in osteoclasts. (nih.gov)
  • Multiple transcript variants encoding different isoforms have been found for this gene. (modellab.cn)
  • phosphorylation at distinct serine residues in its hinge 2 region prevents its cleavage at an adjacent tyrosine residue by calpain 1. (omicsdi.org)
  • Molecular genetics of the Drosophila melanogaster ovo locus, a gene required for sex determination of germline cells. (uchicago.edu)
  • Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene. (wikipedia.org)
  • The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism. (uchicago.edu)
  • Mechanistically, β-Spectrin is required for the localization of α-Spectrin and Ankyrin to the postsynaptic membrane. (rupress.org)
  • While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. (utsouthwestern.edu)
  • Table 2 Density and spatial distribution of immune cell phenotypes in different lesions of ovarian cancer. (tech-strategy.org)
  • Open up in BGJ398 inhibition another window Body 2 Scatter plots evaluating immune system cell phenotypes between major tumor as well as the matching peritoneal lesion. (tech-strategy.org)
  • Explore the normal functions of human genes and the health implications of genetic changes. (medlineplus.gov)
  • Genetic analysis of two female-sterile loci affecting eggshell integrity and embryonic pattern formation in Drosophila melanogaster. (uchicago.edu)
  • Genetic studies of spectrin in the larval fat body of Drosophila melanogaster: evidence for a novel lipid uptake apparatus. (uchicago.edu)
  • The CB upregulates expression of the novel gene, bag of marbles ( bam ), which is necessary for germline differentiation. (biologists.com)
  • He performed some of the first studies to identify transcription factors that regulate the gene expression and differentiation of eosinophils, which are known to play a major role in allergic and asthmatic responses. (ubc.ca)
  • Genome-wide transcriptional profiling using RNA-Seq revealed few age-related changes in gene expression in muscle and esophagus tissue. (nature.com)
  • In contrast, radial nerve showed an unexpected level of complexity with the expression of 3,370 genes significantly altered more than two-fold with age, including genes involved in nerve function, signaling, metabolism, transcriptional regulation and chromatin modification. (nature.com)
  • There was an age-related upregulation in expression of genes involved in synaptogenesis, axonogenesis and neuroprotection suggesting preservation of neuronal processes with age. (nature.com)
  • This unique age-related gene expression profile in the red sea urchin nervous system may play a role in mitigating the detrimental effects of aging in this long-lived animal. (nature.com)
  • Gene expression is a key determinant of cellular phenotype, and genome-wide expression analysis can provide insight into the molecular events underlying complex processes such as aging. (nature.com)
  • Age-related gene expression profiles of the short-lived model animals Caenorhabditis elegans and Drosophila melanogaster share a common adult-onset expression program of genes involved in mitochondrial metabolism, DNA repair, catabolism, peptidolysis and cellular transport 3 . (nature.com)
  • The reduced expression of genes involved in mitochondrial oxidative respiration occurs in early adulthood, before the onset of functional decline, and more abruptly than a damage-response model would predict, which supports the possibility of programmed age-related transcriptional regulation 3 . (nature.com)
  • Gene expression profiles in animals that exhibit slow aging or negligible senescence may reveal distinct insight into potential mechanisms involved in long-term maintenance of tissues and healthy aging. (nature.com)
  • Few genes show differential expression with age in tissues (brain, liver and kidney) of naked mole rats and, contrary to other mammals and short-lived model animals, mitochondrial gene expression does not change with age 13 . (nature.com)
  • Gene expression stability during aging was also observed in tissues of the long-lived giant mole-rat ( Fukomys mechowii ) with a maximum lifespan of more than 20 years 14 . (nature.com)
  • HIV-1 Tat can be an essential protein in the computer virus life cycle, which is required for computer virus gene expression and replication. (tech-strategy.org)
  • Merlin, the Drosophila homologue of neurofibromatosis-2, is specifically required in posterior follicle cells for axis formation in the oocyte. (ox.ac.uk)
  • In Drosophila, the formation of the embryonic axes is initiated by Gurken, a transforming growth factor alpha signal from the oocyte to the posterior follicle cells, and an unknown polarising signal back to the oocyte. (ox.ac.uk)
  • Different requirements for l(1) giant in two embryonic domains of Drosophila melanogaster. (uchicago.edu)
  • The DEPs were mainly enriched in gene ontology (GO) items associated with immunity, complement activation, and protein activation cascade regulation corresponding to 24 pathways, of which complement and coagulation cascades as well as platelet activation pathways were the most significant. (izon.com)
  • Regulation of RNA Polymerase II Activity is Essential for Terminal Erythroid Maturation. (rochester.edu)
  • PR-independent neurosteroid regulation of 2-GABA-A receptors in the hippocampus subfields. (tamu.edu)
  • It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. (wikipedia.org)
  • [ 1 , 2 ] Although the chief target of the autoimmune attack in most cases is the skeletal muscle nicotinic acetylcholine receptor (nAChR), other antigenic targets that are components of the neuromuscular junction (NMJ) have also been implicated. (medscape.com)
  • New Guinea is the second largest island on Earth, featuring an exceedingly species rich biota, diverse climate zones and landforms [ 1 ], as well as a highly complex geological history [ 2 , 3 ] (Fig. 1 ). (biomedcentral.com)
  • Subsequent investigation of this isoform revealed its novel interaction with B23 [2], a multifunctional nucleolar protein involved in ribosome biogenesis, rRNA transcription, mitosis, cell growth control, and apoptosis [3]. (oncotarget.com)
  • Currently the lab is focused on two specific systems: ERAD and ribosome UFMylation. (stanford.edu)
  • We use transgenic double-stranded RNA to selectively eliminate α-Spectrin, β-Spectrin, or Ankyrin. (rupress.org)
  • Isoform gamma contains two PH domains, the second one is split into two parts separated by about 400 residues. (embl.de)