SPTAN1

Summary

Gene Symbol: SPTAN1
Description: spectrin alpha, non-erythrocytic 1
Alias: EIEE5, NEAS, SPTA2, spectrin alpha chain, non-erythrocytic 1, alpha-II spectrin, alpha-fodrin, fodrin alpha chain, spectrin, non-erythroid alpha chain, spectrin, non-erythroid alpha subunit
Species: human
Products:     SPTAN1

Top Publications

  1. Shoeman R, Hartig R, Hauses C, Traub P. Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease. Cell Biol Int. 2002;26:529-39 pubmed
    ..Control experiments demonstrated that the effect and protein cleavages described are due to action of the HIV-1 PR and not to the action of endogenous host cell proteases. ..
  2. Sridharan D, Brown M, Lambert W, McMahon L, Lambert M. Nonerythroid alphaII spectrin is required for recruitment of FANCA and XPF to nuclear foci induced by DNA interstrand cross-links. J Cell Sci. 2003;116:823-35 pubmed
    ..These studies suggest that an important role for alphaSpIISigma* in the nucleus is to act as a scaffold, aiding in recruitment and alignment of repair proteins at sites of damage. ..
  3. Sridharan D, McMahon L, Lambert M. alphaII-Spectrin interacts with five groups of functionally important proteins in the nucleus. Cell Biol Int. 2006;30:866-78 pubmed
    ..These studies indicate that alphaSpIISigma( *) may play a role in a number of diverse and important processes in the nucleus and that a deficiency in this protein, as occurs in FA, could affect a number of critical cellular pathways. ..
  4. Metral S, Machnicka B, Bigot S, Colin Y, Dhermy D, Lecomte M. AlphaII-spectrin is critical for cell adhesion and cell cycle. J Biol Chem. 2009;284:2409-18 pubmed publisher
    ..Our results provide novel insights into spectrin functions by demonstrating the involvement of alphaII-spectrin in cell cycle regulation and actin organization. ..
  5. Gregorio C, Repasky E, Fowler V, Black J. Dynamic properties of ankyrin in T lymphocytes: colocalization with spectrin and protein kinase C beta. J Cell Biol. 1994;125:345-58 pubmed
    ..Our data support the conclusion that ankyrin is not solely involved in anchorage of proteins at the plasma membrane in lymphoid cells. ..
  6. Li X, Bennett V. Identification of the spectrin subunit and domains required for formation of spectrin/adducin/actin complexes. J Biol Chem. 1996;271:15695-702 pubmed
  7. Stabach P, Cianci C, Glantz S, Zhang Z, Morrow J. Site-directed mutagenesis of alpha II spectrin at codon 1175 modulates its mu-calpain susceptibility. Biochemistry. 1997;36:57-65 pubmed
    ..A prominent substrate for mu-calpain is alpha II spectrin (fodrin, brain spectrin), which is cleaved between Tyr1176 and Gly1177 within spectrin's 11th structural ..
  8. McMahon L, Walsh C, Lambert M. Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex. J Biol Chem. 1999;274:32904-8 pubmed
    ..alphaSpIISigma* may thus act as a scaffold to align or enhance interactions between FA proteins and proteins involved in DNA repair. These results suggest that FA represents a disorder in which there is a deficiency in alphaSpIISigma*. ..
  9. Campbell I, Yatsenko S, Hixson P, Reimschisel T, Thomas M, Wilson W, et al. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012;14:868-76 pubmed publisher
    ..In five subjects, deletions include SPTAN1, previously associated with early infantile epileptic encephalopathy, infantile spasms, intellectual disability, ..

More Information

Publications112 found, 100 shown here

  1. Matsumoto H, Zaha K, Nakamura Y, Hayashi S, Inazawa J, Nonoyama S. Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations. Pediatr Neurol. 2014;51:170-5 pubmed publisher
    ..0-Mb microdeletion in chromosome 9q33q34, which encompasses STXBP1, ENG, SPTAN1, and 52 other genes...
  2. Courtieu C, Cornille A, Vaast M, Lacombe S, Panel L. Prospective feasability study of ambulatory surgery for pelvic organ prolapse. Eur J Obstet Gynecol Reprod Biol. 2019;236:36-40 pubmed publisher
    ..Level II-2. Patients were divided in two groups: Group EAS: patients eligible to ambulatory surgery and Group NEAS: patients not eligible to AS...
  3. McMahon L, Zhang P, Sridharan D, Lefferts J, Lambert M. Knockdown of alphaII spectrin in normal human cells by siRNA leads to chromosomal instability and decreased DNA interstrand cross-link repair. Biochem Biophys Res Commun. 2009;381:288-93 pubmed publisher
    ..Thus depletion of alphaIISp in normal cells leads to a number of defects observed in FA cells, such as chromosome instability and a deficiency in cross-link repair. ..
  4. Sarma V, Patil J, Shankar D, Anil A. Shallow convective mixing promotes massive Noctiluca scintillans bloom in the northeastern Arabian Sea. Mar Pollut Bull. 2019;138:428-436 pubmed publisher
    The northeastern Arabian Sea (NEAS) experiences convective mixing during winter, but this mixing does not reach up to the silicicline, resulting in the limited supply of silicate (Si) compared to nitrate (N) and phosphate (P) to the mixed ..
  5. Sun Z, Wang L, Eckloff B, Deng B, Wang Y, Wampfler J, et al. Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers. BMC Med Genomics. 2014;7:32 pubmed publisher
    ..Ten genes (EGFR, TP53, KRAS, RPS6KB2, ATXN2, DHX9, PTPN13, SP1, SPTAN1 and MYOF) had recurrent mutations and these mutations were highly correlated with pathway deregulation and patient ..
  6. Persike D, Marques Carneiro J, Stein M, Yacubian E, Centeno R, Canzian M, et al. Altered Proteins in the Hippocampus of Patients with Mesial Temporal Lobe Epilepsy. Pharmaceuticals (Basel). 2018;11: pubmed publisher
    ..The protein isoform 3 of the spectrin alpha chain (SPTAN1) was down-regulated while glutathione S-transferase P (GSTP1) and protein DJ-1 (PARK7) were found only in the ..
  7. Shah J, Desai P, Weimer B. Genetic mechanisms underlying the pathogenicity of cold-stressed Salmonella enterica serovar typhimurium in cultured intestinal epithelial cells. Appl Environ Microbiol. 2014;80:6943-53 pubmed publisher
    ..Further, a prophage gene, STM2699, induced in cold-stressed Salmonella and a spectrin gene, SPTAN1, induced in Salmonella-infected intestinal epithelial cells were found to have a significant contribution in ..
  8. Leto T, Fortugno Erikson D, Barton D, Yang Feng T, Francke U, Harris A, et al. Comparison of nonerythroid alpha-spectrin genes reveals strict homology among diverse species. Mol Cell Biol. 1988;8:1-9 pubmed
    ..The nonerythroid alpha-spectrin gene was mapped to human chromosome 9, in contrast to the erythroid alpha-spectrin gene, which has previously been assigned to a locus on chromosome 1. ..
  9. Khan M, Dhammu T, Singh I, Singh A. Amelioration of spinal cord injury in rats by blocking peroxynitrite/calpain activity. BMC Neurosci. 2018;19:50 pubmed publisher
    ..as expression of 3-nitrotyrosine (3-NT), calpain activity, as the degradation products of calpain substrate alpha II spectrin, and nNOS activity, as the expression phospho nNOS, were measured by western blot analysis...
  10. Mondello S, Robicsek S, Gabrielli A, Brophy G, Papa L, Tepas J, et al. ?II-spectrin breakdown products (SBDPs): diagnosis and outcome in severe traumatic brain injury patients. J Neurotrauma. 2010;27:1203-13 pubmed publisher
    ..The time course of SBDPs in nonsurvivors also differed from that of survivors. These results suggest that CSF SBDP levels can predict injury severity and mortality after severe TBI, and can be useful complements to clinical assessment. ..
  11. Papa L, Rosenthal K, Silvestri F, Axley J, Kelly J, Lewis S. Evaluation of alpha-II-spectrin breakdown products as potential biomarkers for early recognition and severity of aneurysmal subarachnoid hemorrhage. Sci Rep. 2018;8:13308 pubmed publisher
    ..001). This study demonstrates the potential that SBDP's have as biomarkers for recognition and severity of aSAH. A larger prospective study is warranted. ..
  12. McMahon A, Moon R. Structure and evolution of a non-erythroid spectrin, human alpha-fodrin. Biochem Soc Trans. 1987;15:804-7 pubmed
  13. Bournier O, Kroviarski Y, Rotter B, Nicolas G, Lecomte M, Dhermy D. Spectrin interacts with EVL (Enabled/vasodilator-stimulated phosphoprotein-like protein), a protein involved in actin polymerization. Biol Cell. 2006;98:279-93 pubmed
    ..The possible link between the spectrin-based skeleton and actin via the EVL protein suggests a new way of integrating the spectrin-based skeleton in areas of dynamic actin reorganization. ..
  14. Sriroopreddy R, Sajeed R, P R, C S. Differentially expressed gene (DEG) based protein-protein interaction (PPI) network identifies a spectrum of gene interactome, transcriptome and correlated miRNA in nondisjunction Down syndrome. Int J Biol Macromol. 2019;122:1080-1089 pubmed publisher
    ..Subsequently, GNB5, CDC42, SPTAN1, GNG2, GNAZ, PRKACB, SST, CD44, FGF2, PHLPP1, APP, and FYN were identified as the candidate hub genes by using ..
  15. Swisher L, Prior A, Gunaratna M, Shishido S, Madiyar F, Nguyen T, et al. Quantitative electrochemical detection of cathepsin B activity in breast cancer cell lysates using carbon nanofiber nanoelectrode arrays toward identification of cancer formation. Nanomedicine. 2015;11:1695-704 pubmed publisher
    ..current voltammetry (ACV) using ferrocene (Fc)-labeled-tetrapeptides immobilized on nanoelectrode arrays (NEAs) fabricated with vertically aligned carbon nanofibers (VACNFs)...
  16. Sentic M, Virgilio F, Zanut A, Manojlović D, Arbault S, Tormen M, et al. Microscopic imaging and tuning of electrogenerated chemiluminescence with boron-doped diamond nanoelectrode arrays. Anal Bioanal Chem. 2016;408:7085-94 pubmed publisher
    Nanoelectrode arrays (NEAs) are increasingly applied for a variety of electroanalytical applications; however, very few studies dealt with the use of NEAs as an electrochemical generator of electrogenerated chemiluminescence (ECL)...
  17. Terada K, Sano Y, Takahata N, Ishida A, Tsuchiyama A, Nakamura T, et al. Thermal and impact histories of 25143 Itokawa recorded in Hayabusa particles. Sci Rep. 2018;8:11806 pubmed publisher
    Understanding the origin and evolution of near-Earth asteroids (NEAs) is an issue of scientific interest and practical importance because NEAs are potentially hazardous to the Earth...
  18. Li H, Chen Y, Li Q, Liu M, Mao J, Song D, et al. [A microdeletion of chromosome 9q34.11 may cause suspected cerebral palsy]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014;31:725-9 pubmed publisher
    ..A -2.11 Mb microdeletion of chromosome 9q34.11 region was found though aCGH, which including SPTAN1, TOR1A and other nearly 50 genes related to mental retardation, early infantile spasms, epileptic encephalopathy, ..
  19. Fu K, Han D, Ma C, Bohn P. Ion selective redox cycling in zero-dimensional nanopore electrode arrays at low ionic strength. Nanoscale. 2017;9:5164-5171 pubmed publisher
    ..In this study, highly ordered, zero-dimensional nanopore electrode arrays (NEAs), with each nanopore presenting a pair of recessed electrodes, were fabricated to couple EDL effects with redox ..
  20. Riederer B, Routtenberg A. Can GAP-43 interact with brain spectrin?. Brain Res Mol Brain Res. 1999;71:345-8 pubmed
    ..It is attractive to think that such an interaction would participate in the structural plasticity observed in growth cones and adult synapses. ..
  21. Bockers T, Mameza M, Kreutz M, Bockmann J, Weise C, Buck F, et al. Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrin. J Biol Chem. 2001;276:40104-12 pubmed
    ..Our data indicate that the Shank1 and -3 family members provide multiple independent connections between synaptic glutamate receptor complexes and the cytoskeleton. ..
  22. Yang B, Xu Y, Wu Y, Wu H, Wang Y, Yuan L, et al. Simultaneous determination of ten Aconitum alkaloids in rat tissues by UHPLC-MS/MS and its application to a tissue distribution study on the compatibility of Heishunpian and Fritillariae thunbergii Bulbus. J Chromatogr B Analyt Technol Biomed Life Sci. 2016;1033-1034:242-249 pubmed publisher
    ..feature of monoester diterpenoid aconitines (MDAs), diester diterpenoid aconitines (DDAs) and non-ester alkaloids (NEAs) were inconsistency, and the compatibility of HSP and ZBM resulted in the distribution amount of DDAs increased in ..
  23. Wang Y, Ji T, Nelson A, Glanowska K, Murphy G, Jenkins P, et al. Critical roles of αII spectrin in brain development and epileptic encephalopathy. J Clin Invest. 2018;128:760-773 pubmed publisher
    The nonerythrocytic α-spectrin-1 (SPTAN1) gene encodes the cytoskeletal protein αII spectrin...
  24. Rapaccini V, Esposito S, Strinati F, Allegretti M, Manfroi E, Miconi F, et al. A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy. Int J Mol Sci. 2018;19: pubmed publisher
    ..i>SPTAN1 is among the genes whose mutations are associated with EIEE development (OMIM# 613477). Here, a case of the c...
  25. Bennett A, Hayes N, Baines A. Site specificity in the interactions of synapsin 1 with tubulin. Biochem J. 1991;276 ( Pt 3):793-9 pubmed
    ..Our results show that there are tubulin-binding sites in both head and tail domains. We conclude that synapsin 1 monomers should be able to cross-link microtubules. ..
  26. Lefferts J, Wang C, Sridharan D, Baralt M, Lambert M. The SH3 domain of alphaII spectrin is a target for the Fanconi anemia protein, FANCG. Biochemistry. 2009;48:254-63 pubmed publisher
    ..We propose that this binding of FANCG to alphaIISp may be important for the stability of alphaIISp in cells and the role alphaIISp plays in the DNA repair process. ..
  27. Siegel J, Tatum W. Index-finger pointing in generalized tonic-clonic seizures. Epilepsy Behav. 2016;58:18-21 pubmed publisher
    ..contralateral, and bilateral to vEEG ictal correlate was compared between LRE, GGE, and nonepileptic attacks (NEAs). The angle of IFP was measured to quantify the mean degree of IFP in "pointers" versus "nonpointers"...
  28. Ganjiani S, Hossein Nezhad A. Molecular dynamics simulation of a nanofluidic energy absorption system: effects of the chiral vector of carbon nanotubes. Phys Chem Chem Phys. 2018;20:5140-5148 pubmed publisher
    A Nanofluidic Energy Absorption System (NEAS) is a novel nanofluidic system with a small volume and weight. In this system, the input mechanical energy is converted to surface tension energy during liquid infiltration in the nanotube...
  29. Shartava A, Korn W, Shah A, Goodman S. Irreversibly sickled cell beta-actin: defective filament formation. Am J Hematol. 1997;55:97-103 pubmed
  30. Huang C, Zhang C, Zollinger D, Leterrier C, Rasband M. An αII Spectrin-Based Cytoskeleton Protects Large-Diameter Myelinated Axons from Degeneration. J Neurosci. 2017;37:11323-11334 pubmed publisher
    ..i>Avil-cre;Sptan1f/f mice have reduced numbers of nodes, disrupted paranodal junctions, and mislocalized Kv1 K+
  31. Sun J, Kil C, Stankewich M, Yao Z, Li J, Vortmeyer A. A 10-minute prototype assay for tissue degradation monitoring in clinical specimens. Exp Mol Pathol. 2015;99:86-94 pubmed publisher
    We recently identified alpha II spectrin as a Tissue Degradation Indicator (TDI) and demonstrated that intrinsic spectrin-breakdown levels reliably reveal tissue degradation status in biospecimens...
  32. Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, et al. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet. 2010;86:881-91 pubmed publisher
    ..We assumed that another gene within the deletion might contribute to the phenotype of group A. SPTAN1 encoding alpha-II spectrin, which is essential for proper myelination in zebrafish, turned out to be deleted...
  33. Johnson V, Stewart W, Weber M, Cullen D, Siman R, Smith D. SNTF immunostaining reveals previously undetected axonal pathology in traumatic brain injury. Acta Neuropathol. 2016;131:115-35 pubmed publisher
    ..These data demonstrate that multiple pathological axonal phenotypes exist post-TBI and provide insight into a more comprehensive approach to the neuropathological assessment of DAI. ..
  34. Moser H, Pölz W, Waclawek J, Ofner J, Lendl B. Implementation of a quantum cascade laser-based gas sensor prototype for sub-ppmv H2S measurements in a petrochemical process gas stream. Anal Bioanal Chem. 2017;409:729-739 pubmed publisher
    ..A noise-equivalent absorption sensitivity (NEAS) for H2S targeting the absorption line at 1247.2 cm-1 was found to be 8...
  35. Ono Y, Shimada H, Sorimachi H, Richard I, Saido T, Beckmann J, et al. Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. J Biol Chem. 1998;273:17073-8 pubmed
    ..These results provide strong evidence that LGMD2A results from the loss of proteolysis of substrates by p94, suggesting a novel molecular mechanism leading to muscular dystrophies. ..
  36. Cianci C, Zhang Z, Pradhan D, Morrow J. Brain and muscle express a unique alternative transcript of alphaII spectrin. Biochemistry. 1999;38:15721-30 pubmed
    ..The presence of this sequence in alphaIISigma3 and alphaIISigma4 spectrin suggests a specialized and heretofore unanticipated function for the 15th repeat of this molecule. ..
  37. Millar J, Christie S, Porteous D. Yeast two-hybrid screens implicate DISC1 in brain development and function. Biochem Biophys Res Commun. 2003;311:1019-25 pubmed
    ..Intriguingly, mutations in one of the proteins identified, WKL1, have been previously suggested to underlie the aetiology of catatonic schizophrenia. ..
  38. Meissner J, Sikorski A, Nawara T, Grzesiak J, Marycz K, Bogusławska D, et al. ?II-spectrin in T cells is involved in the regulation of cell-cell contact leading to immunological synapse formation?. PLoS ONE. 2017;12:e0189545 pubmed publisher
  39. Pang M, He J, Johnson P, Baum L. CD45-mediated fodrin cleavage during galectin-1 T cell death promotes phagocytic clearance of dying cells. J Immunol. 2009;182:7001-8 pubmed publisher
    ..These studies identify a novel role for CD45 in regulating cellular disassembly and promoting phagocytic clearance during galectin-1-induced T cell death. ..
  40. Zheng T, Schlosser S, Dao T, Hingorani R, Crispe I, Boyer J, et al. Caspase-3 controls both cytoplasmic and nuclear events associated with Fas-mediated apoptosis in vivo. Proc Natl Acad Sci U S A. 1998;95:13618-23 pubmed
    ..The altered cleavage of these key substrates is likely responsible for the aberrant apoptosis observed in both hepatocytes and thymocytes deficient in caspase-3. ..
  41. Bignone P, King M, Pinder J, Baines A. Phosphorylation of a threonine unique to the short C-terminal isoform of betaII-spectrin links regulation of alpha-beta spectrin interaction to neuritogenesis. J Biol Chem. 2007;282:888-96 pubmed
    ..Furthermore, because both the T2159E mutant and the wild-type allow neuritogenesis, we conclude that the short C-terminal betaII-spectrin is phosphorylated during this process. ..
  42. McMahon L, Sangerman J, Goodman S, Kumaresan K, Lambert M. Human alpha spectrin II and the FANCA, FANCC, and FANCG proteins bind to DNA containing psoralen interstrand cross-links. Biochemistry. 2001;40:7025-34 pubmed
  43. Cianci C, Giorgi M, Morrow J. Phosphorylation of ankyrin down-regulates its cooperative interaction with spectrin and protein 3. J Cell Biochem. 1988;37:301-15 pubmed
    ..Such interactions may be of general importance in nonerythroid cells. ..
  44. Hirai H, Matsuda S. Interaction of the C-terminal domain of delta glutamate receptor with spectrin in the dendritic spines of cultured Purkinje cells. Neurosci Res. 1999;34:281-7 pubmed
    ..This mechanism for receptor anchoring at postsynaptic sites may regulate synaptogenesis and/or synaptic plasticity. ..
  45. Lefferts J, Lambert M. Fanconi anemia cell lines deficient in alphaII spectrin express normal levels of alphaII spectrin mRNA. Biochem Biophys Res Commun. 2003;307:510-5 pubmed
  46. Karimian N, Moretto L, Ugo P. Nanobiosensing with Arrays and Ensembles of Nanoelectrodes. Sensors (Basel). 2016;17: pubmed publisher
    Since the first reports dating back to the mid-1990s, ensembles and arrays of nanoelectrodes (NEEs and NEAs, respectively) have gained an important role as advanced electroanalytical tools thank to their unique characteristics which ..
  47. McMahon A, Giebelhaus D, Champion J, Bailes J, Lacey S, Carritt B, et al. cDNA cloning, sequencing and chromosome mapping of a non-erythroid spectrin, human alpha-fodrin. Differentiation. 1987;34:68-78 pubmed
    ..These data suggest that mammalian erythroid alpha-spectrin evolved by duplication and rapid divergence from an ancestral alpha-fodrin-like gene...
  48. Hayashi Y, Arakaki R, Ishimaru N. The role of caspase cascade on the development of primary Sjögren's syndrome. J Med Invest. 2003;50:32-8 pubmed
    ..Thus, an increased activity in caspase cascade may be involved in the progression of alpha-fodrin proteolysis and tissue destruction on the development of SS...
  49. Khan M, Dhammu T, Matsuda F, Annamalai B, Dhindsa T, Singh I, et al. Targeting the nNOS/peroxynitrite/calpain system to confer neuroprotection and aid functional recovery in a mouse model of TBI. Brain Res. 2016;1630:159-70 pubmed publisher
    ..treatment at 2h after CCI decreased the expression levels of phospho neuronal nitric oxide synthase (pnNOS), alpha II spectrin degraded products, and 3-NT, while also decreasing the activities of nNOS and calpains...
  50. Lencesova L, O Neill A, Resneck W, Bloch R, Blaustein M. Plasma membrane-cytoskeleton-endoplasmic reticulum complexes in neurons and astrocytes. J Biol Chem. 2004;279:2885-93 pubmed
    ..These PM and ER components appear to be linked through the cytoskeletal spectrin network, to which they are probably tethered by Ank 2. ..
  51. Jänicke R, Ng P, Sprengart M, Porter A. Caspase-3 is required for alpha-fodrin cleavage but dispensable for cleavage of other death substrates in apoptosis. J Biol Chem. 1998;273:15540-5 pubmed
  52. Davis L, Bennett V. Mapping the binding sites of human erythrocyte ankyrin for the anion exchanger and spectrin. J Biol Chem. 1990;265:10589-96 pubmed
    ..The finding that the 33-amino acid repeating sequence is involved in interaction with the anion exchanger implies that this motif may perform a role in molecular recognition in diverse proteins. ..
  53. Murakami N, Kitamura N, Kajimoto Y, Hashimoto T, Yasuda M, Maeda K, et al. Association study of a polymorphism of nonerythroid alpha-spectrin gene with schizophrenia. Am J Med Genet. 1999;88:291-3 pubmed
    ..associated with schizophrenia through the C-terminus sequences of the human nonerythroid alpha-spectrin gene (SPTAN1) spanning two EF-hands and also tested a possible contribution of the polymorphism to the development of ..
  54. Kontrogianni Konstantopoulos A, Frye C, Benz E, Huang S. The prototypical 4.1R-10-kDa domain and the 4.1g-10-kDa paralog mediate fodrin-actin complex formation. J Biol Chem. 2001;276:20679-87 pubmed
    ..1G are distributed underneath the plasma membrane in PC12 cells. Collectively, these observations suggest that brain 4.1R and 4.1G may modulate the membrane mechanical properties of neuronal cells by promoting fodrin/actin association. ..
  55. Mandal D, Moitra P, Basu J. Mapping of a spectrin-binding domain of human erythrocyte membrane protein 4.2. Biochem J. 2002;364:841-7 pubmed
    ..2 confirmed that these residues are crucial in mediating protein 4.2-spectrin interactions. ..
  56. Beard M, O Connell J, Bolger G, Houslay M. The unique N-terminal domain of the cAMP phosphodiesterase PDE4D4 allows for interaction with specific SH3 domains. FEBS Lett. 1999;460:173-7 pubmed
    ..PDE4D4 did not bind to WW domains. We suggest that an important function of the unique N-terminal region of PDE4D4 may be to allow for association with certain SH3 domain-containing proteins. ..
  57. Suzuki T, Li W, Zhang J, Tian Q, Sakagami H, Usuda N, et al. A novel scaffold protein, TANC, possibly a rat homolog of Drosophila rolling pebbles (rols), forms a multiprotein complex with various postsynaptic density proteins. Eur J Neurosci. 2005;21:339-50 pubmed
    ..These results suggest that TANC protein may work as a postsynaptic scaffold component by forming a multiprotein complex with various postsynaptic density proteins. ..
  58. Walsh J, Cullen S, Sheridan C, Lüthi A, Gerner C, Martin S. Executioner caspase-3 and caspase-7 are functionally distinct proteases. Proc Natl Acad Sci U S A. 2008;105:12815-9 pubmed publisher
    ..Our observations provide a molecular basis for the different phenotypes seen in mice lacking either caspase and indicate that these proteases occupy nonredundant roles within the cell death machinery. ..
  59. Christensen R, Nussenzveig R, Reading N, Agarwal A, Prchal J, Yaish H. Variations in both ?-spectrin (SPTA1) and ?-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. Neonatology. 2014;105:1-4 pubmed publisher
    ..In addition, a novel heterozygous mutation was identified in exon 2 of the ?-spectrin gene SPTB. No mutations were identified in ANK1 (ankyrin-1), SLC4A1 (band 3), EPB41 (band 4.1), or EPB42 (band 4.2). ..
  60. Sheng G, Zhang J, Zeng Z, Pan J, Wang Q, Wen L, et al. Identification of a novel CSF3R-SPTAN1 fusion gene in an atypical chronic myeloid leukemia patient with t(1;9)(p34;q34) by RNA-Seq. Cancer Genet. 2017;216-217:16-19 pubmed publisher
    ..identified a novel fusion transcript involving exon 17 of CSF3R and exon 50 of non-erythrocytic-1-spectrin-alpha (SPTAN1)...
  61. Steiner J, Bennett V. Ankyrin-independent membrane protein-binding sites for brain and erythrocyte spectrin. J Biol Chem. 1988;263:14417-25 pubmed
    ..This flexibility has implications for assembly of the membrane skeleton and targeting of spectrin isoforms to specialized regions of cells. ..
  62. Lundberg S, Bjork J, Löfvenberg L, Backman L. Cloning, expression and characterization of two putative calcium-binding sites in human non-erythroid alpha-spectrin. Eur J Biochem. 1995;230:658-65 pubmed
    ..The relative change in negative ellipticity, induced by the binding of calcium, indicates a dissociation constant of approximately 120 microM. ..
  63. Wechsler A, Teichberg V. Brain spectrin binding to the NMDA receptor is regulated by phosphorylation, calcium and calmodulin. EMBO J. 1998;17:3931-9 pubmed
    ..The highly regulated linkage of the NMDA-R to spectrin may underlie the morphological changes that occur in neuronal dendrites concurrently with synaptic activity and plasticity. ..
  64. Takamure M, Murata K, Tamada Y, Azuma M, Ueno S. Calpain-dependent alpha-fodrin cleavage at the sarcolemma in muscle diseases. Muscle Nerve. 2005;32:303-9 pubmed
    ..These observations indicate that calpain is activated and reacts with alpha-fodrin as a substrate at the sarcolemma, and plays a key role in modulating sarcolemmal proteins to adapt to the specific conditions in each myopathy. ..
  65. Tremblay C, Huang F, Habi O, Huard C, Godin C, Levesque G, et al. HES1 is a novel interactor of the Fanconi anemia core complex. Blood. 2008;112:2062-70 pubmed publisher
    ..HES1 is also required for proper nuclear localization or stability of some members of the core complex. Our results suggest that HES1 is a novel interacting protein of the FA core complex. ..
  66. Berger R, Hayes R, Richichi R, Beers S, Wang K. Serum concentrations of ubiquitin C-terminal hydrolase-L1 and αII-spectrin breakdown product 145 kDa correlate with outcome after pediatric TBI. J Neurotrauma. 2012;29:162-7 pubmed publisher
    ..These results suggest that these two markers may be useful in assessing outcome after moderate and severe pediatric TBI. ..
  67. Hinrichsen I, Ernst B, Nuber F, Passmann S, Schäfer D, Steinke V, et al. Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1. Mol Cancer. 2014;13:11 pubmed publisher
    ..We recently identified non-erythroid spectrin ?II (SPTAN1), a scaffolding protein involved in cell adhesion and motility, to interact with MLH1...
  68. Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A. Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. Am J Med Genet A. 2017;173:2494-2499 pubmed publisher
  69. Herrmann H, Wiche G. Plectin and IFAP-300K are homologous proteins binding to microtubule-associated proteins 1 and 2 and to the 240-kilodalton subunit of spectrin. J Biol Chem. 1987;262:1320-5 pubmed
    ..Similar characteristics were revealed for corresponding 300-kDa components of various other cell lines, supporting the concept that plectin is a general cytoskeletal cross-linking element, probably of multiple function. ..
  70. Hughes C, Bennett V. Adducin: a physical model with implications for function in assembly of spectrin-actin complexes. J Biol Chem. 1995;270:18990-6 pubmed
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    Heterozygous in-frame mutations (p.E2207del and p.R2308_M2309dup) in the ?-II subunit of spectrin (SPTAN1) were recently identified in two patients with intellectual disability (ID), infantile spasms (IS), hypomyelination, and brain ..
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