SPTBN4

Summary

Gene Symbol: SPTBN4
Description: spectrin, beta, non-erythrocytic 4
Alias: SPNB4, SPTBN3, beta-IV spectrin, spectrin beta chain, brain 3, spectrin beta chain, non-erythrocytic 4, spectrin, non-erythroid beta chain 3
Species: human

Top Publications

  1. ncbi A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix
    W T Tse
    Division of Hematology Oncology, Children s Hospital, and the Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Biol Chem 276:23974-85. 2001
  2. pmc betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system
    S Berghs
    Department of Internal Medicine, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    J Cell Biol 151:985-1002. 2000
  3. pmc DNA methylation map of mouse and human brain identifies target genes in Alzheimer's disease
    Jose V Sanchez-Mut
    1 Cancer Epigenetics and Biology Program PEBC, Bellvitge Biomedical Research Institute IDIBELL, 08908 L Hospitalet, Barcelona, Catalonia, Spain
    Brain 136:3018-27. 2013
  4. pmc Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth
    Yuji Ozeki
    Division of Neurobiology and Department of Psychiatry, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 100:289-94. 2003
  5. ncbi Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease
    Robert L Shoeman
    Max Planck Institut für Zellbiologie, Rosenhof, 68526 Ladenburg, Germany
    Cell Biol Int 26:529-39. 2002
  6. ncbi DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation
    Jill A Morris
    Department of Neuroscience, Merck Research Laboratories, West Point, PA 19486, USA
    Hum Mol Genet 12:1591-608. 2003
  7. doi Sodium channel cluster, betaIV-spectrin and ankyrinG positive "hot spots" on dendritic segments of parvalbumin-containing neurons and some other neurons in the mouse and rat main olfactory bulbs
    Toshio Kosaka
    Department of Anatomy and Neurobiology, Graduate School of Medical Sciences, Kyushu University, Higashi ku, Fukuoka 812 8582, Japan
    Neurosci Res 62:176-86. 2008
  8. doi Schwannomin-interacting protein-1 isoform IQCJ-SCHIP-1 is a late component of nodes of Ranvier and axon initial segments
    Pierre Marie Martin
    Unité Mixte de Recherche S 839, INSERM, Universite Pierre et Marie Curie, Institut du Fer a Moulin, Paris 75005, France
    J Neurosci 28:6111-7. 2008
  9. ncbi Heterogeneity of parvalbumin-containing neurons in the mouse main olfactory bulb, with special reference to short-axon cells and betaIV-spectrin positive dendritic segments
    Toshio Kosaka
    Department of Anatomy and Neurobiology, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Neurosci Res 60:56-72. 2008
  10. pmc Neurofascin assembles a specialized extracellular matrix at the axon initial segment
    Kristian L Hedstrom
    Department of Neuroscience, University of Connecticut Health Center, Farmington, CT 06032, USA
    J Cell Biol 178:875-86. 2007

Research Grants

  1. AUDITORY NEUROGENETICS
    BRUCE TEMPEL; Fiscal Year: 2007

Scientific Experts

  • Masayuki Komada
  • Jérôme J Devaux
  • W T Tse
  • S M Jenkins
  • R L Shoeman
  • BRUCE TEMPEL
  • Matthew N Rasband
  • Jon Morrow
  • Yang Yang
  • Dianne A Cruz
  • Toshio Kosaka
  • Yasuhiro Ogawa
  • Dorothy P Schafer
  • Kristian L Hedstrom
  • Nobuhiko Ohno
  • Jose V Sanchez-Mut
  • Sandra Lacas-Gervais
  • Anna R Moore
  • Setareh Shams'ili
  • Raphael Winkels
  • David A Lewis
  • Emily M Lovallo
  • Katsuko Kosaka
  • Pierre Marie Martin
  • Kazunari Nishimura
  • Wendy A C Bloomer
  • Yulia Dzhashiashvili
  • Yoko Uemoto
  • Martin Grumet
  • Nobuo Terada
  • Shinichi Ohno
  • Darshan Koticha
  • Michele Solimena
  • Jill A Morris
  • Yuji Ozeki
  • Mario F Fraga
  • Jesus Avila
  • Cecile Gurnot
  • Antonio Gomez
  • Ira Lott
  • Takao K Hensch
  • Ester Aso
  • Aurora Astudillo
  • Alberto Rabano
  • Manel Esteller
  • Nicolas Panayotis
  • Jose I Martin-Subero
  • Balázs Bálint
  • Jean Christophe Roux
  • Agustin F Fernandez
  • Rocio G Urdinguio
  • Isidre Ferrer
  • Mara Dierssen
  • N J Parkinson
  • S Berghs
  • Christian Schultz
  • Peter Sillevis Smitt
  • Matthew Rasband
  • Trupti Akella
  • Darlene S Melchitzky
  • Radmila Filipovic
  • Felix K Weise
  • Nada Zecevic
  • Bertie de Leeuw
  • Peter Jedlicka
  • Smita Jha
  • Stephan W Schwarzacher
  • Louise D McCullough
  • Esther Hulsenboom
  • Dick Jaarsma
  • Zhicheng Mo
  • Steven Stockton
  • Srdjan D Antic
  • Thomas Deller
  • Fudong Liu
  • Cassandra L Weaver
  • Bénédicte Dargent
  • Laurence Goutebroze
  • Marie Irondelle
  • Michèle Carnaud
  • Jean Antoine Girault
  • Gontzal Garcia del Caño
  • Theano Irinopoulou
  • Shinya Yamanaka
  • Peter Shrager
  • Hiroyuki Kamiguchi
  • Hiroki Akiyama
  • Antonius M J VanDongen
  • Renato Frischknecht
  • Hendrika M A VanDongen

Detail Information

Publications32

  1. ncbi A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix
    W T Tse
    Division of Hematology Oncology, Children s Hospital, and the Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Biol Chem 276:23974-85. 2001
    ..Spectrin betaIV is the first beta-spectrin associated with a subnuclear structure and may be part of a nuclear scaffold to which gene regulatory machinery binds...
  2. pmc betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system
    S Berghs
    Department of Internal Medicine, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    J Cell Biol 151:985-1002. 2000
    ..Thus, we suggest that betaIVSigma1 spectrin interacts with ankyrin(G) 480/270-kD and participates in the clustering of voltage-gated Na(+) channels and cell-adhesion molecules at initial segments and nodes of Ranvier...
  3. pmc DNA methylation map of mouse and human brain identifies target genes in Alzheimer's disease
    Jose V Sanchez-Mut
    1 Cancer Epigenetics and Biology Program PEBC, Bellvitge Biomedical Research Institute IDIBELL, 08908 L Hospitalet, Barcelona, Catalonia, Spain
    Brain 136:3018-27. 2013
    ..targets genes: thromboxane A2 receptor (TBXA2R), sorbin and SH3 domain containing 3 (SORBS3) and spectrin beta 4 (SPTBN4)...
  4. pmc Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth
    Yuji Ozeki
    Division of Neurobiology and Department of Psychiatry, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 100:289-94. 2003
    ..As schizophrenia is thought to reflect defects in cortical development that are determined by cytoskeletal protein activities, the cellular disturbances we observe with mutant DISC-1 may be relevant to psychopathologic mechanisms...
  5. ncbi Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease
    Robert L Shoeman
    Max Planck Institut für Zellbiologie, Rosenhof, 68526 Ladenburg, Germany
    Cell Biol Int 26:529-39. 2002
    ..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...
  6. ncbi DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation
    Jill A Morris
    Department of Neuroscience, Merck Research Laboratories, West Point, PA 19486, USA
    Hum Mol Genet 12:1591-608. 2003
    ....
  7. doi Sodium channel cluster, betaIV-spectrin and ankyrinG positive "hot spots" on dendritic segments of parvalbumin-containing neurons and some other neurons in the mouse and rat main olfactory bulbs
    Toshio Kosaka
    Department of Anatomy and Neurobiology, Graduate School of Medical Sciences, Kyushu University, Higashi ku, Fukuoka 812 8582, Japan
    Neurosci Res 62:176-86. 2008
    ..Our study suggested that these morphologically identified dendritic "hot spots" might correspond to dendritic spike generation sites of those neurons...
  8. doi Schwannomin-interacting protein-1 isoform IQCJ-SCHIP-1 is a late component of nodes of Ranvier and axon initial segments
    Pierre Marie Martin
    Unité Mixte de Recherche S 839, INSERM, Universite Pierre et Marie Curie, Institut du Fer a Moulin, Paris 75005, France
    J Neurosci 28:6111-7. 2008
    ..We suggest that IQCJ-SCHIP-1 might participate, along with AnkG and betaIV-spectrin, in the stabilization or function of the multimolecular complexes of AISs and NRs, possibly by participating in Ca(2+)-mediated responses...
  9. ncbi Heterogeneity of parvalbumin-containing neurons in the mouse main olfactory bulb, with special reference to short-axon cells and betaIV-spectrin positive dendritic segments
    Toshio Kosaka
    Department of Anatomy and Neurobiology, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Neurosci Res 60:56-72. 2008
    ..The present study revealed the diversity of parvalbumin-positive neurons in the mouse MOB and their particular structural properties hitherto unknown...
  10. pmc Neurofascin assembles a specialized extracellular matrix at the axon initial segment
    Kristian L Hedstrom
    Department of Neuroscience, University of Connecticut Health Center, Farmington, CT 06032, USA
    J Cell Biol 178:875-86. 2007
    ..Thus, NF-186 assembles and links the specialized brevican-containing AIS extracellular matrix to the intracellular cytoskeleton...
  11. pmc Electrical excitability of early neurons in the human cerebral cortex during the second trimester of gestation
    Anna R Moore
    Department of Neuroscience, University of Connecticut Health Center, Farmington, CT 06030, USA
    Cereb Cortex 19:1795-805. 2009
    ..At 19 gw, a fraction of human CP and SP neurons possess beta IV spectrin-positive axon initial segments populated with voltage-gated sodium channels (PanNav)...
  12. doi Reduced excitability in the dentate gyrus network of betaIV-spectrin mutant mice in vivo
    Raphael Winkels
    Institute of Clinical Neuroanatomy, Goethe University, Theodor Stern Kai 7, Frankfurt am Main, Germany
    Hippocampus 19:677-86. 2009
    ..Taken together, our findings demonstrate that betaIV-spectrin is required for normal granule cell firing and for physiological levels of network excitability in the mouse dentate gyrus in vivo...
  13. pmc Selective alterations in postsynaptic markers of chandelier cell inputs to cortical pyramidal neurons in subjects with schizophrenia
    Dianne A Cruz
    Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15213, USA
    Neuropsychopharmacology 34:2112-24. 2009
    ....
  14. pmc Postnatal development of synaptic structure proteins in pyramidal neuron axon initial segments in monkey prefrontal cortex
    Dianne A Cruz
    Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15213, USA
    J Comp Neurol 514:353-67. 2009
    ....
  15. doi A new paraneoplastic encephalomyelitis autoantibody reactive with the axon initial segment
    Setareh Shams'ili
    Department of Neurology, Erasmus University Medical Center, The Netherlands
    Neurosci Lett 467:169-72. 2009
    ..Screening a rat hippocampal cDNA library resulted in the isolation of ubiquitin-conjugating enzyme E2E1 (UBE2E1). However, blocking and elution experiments excluded UBE2E1 as the AIS autoantigen...
  16. pmc Disruption of the axon initial segment cytoskeleton is a new mechanism for neuronal injury
    Dorothy P Schafer
    Department of Neuroscience, University of Connecticut Health Center, Farmington, Connecticut 06032, USA
    J Neurosci 29:13242-54. 2009
    ..We conclude that loss of AIS ion channel clusters and neuronal polarity are important contributors to neuronal dysfunction after injury, and that strategies to facilitate recovery must preserve or repair the AIS cytoskeleton...
  17. pmc The C-terminal domain of ßIV-spectrin is crucial for KCNQ2 aggregation and excitability at nodes of Ranvier
    Jérôme J Devaux
    Département Signalisation Neuronale, CRN2M, UMR 6231, CNRS, Faculte de Medecine Secteur Nord, Université de la Méditerranée Université Paul Cézanne, CS80011, Bd Pierre Dramard, 13344 Marseille Cedex 15, France
    J Physiol 588:4719-30. 2010
    ..neuromuscular junction and peripheral nerves in quivering-3J mice, which show a frame-shift base insertion in the Spnb4 gene and lack the C-terminus of βIV-spectrin...
  18. pmc Nodes of Ranvier and axon initial segments are ankyrin G-dependent domains that assemble by distinct mechanisms
    Yulia Dzhashiashvili
    Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA
    J Cell Biol 177:857-70. 2007
    ..Thus, initial segments assemble from the inside out driven by the intrinsic accumulation of ankyrin G, whereas PNS nodes assemble from the outside in, specified by Schwann cells, which direct the NF186-dependent recruitment of ankyrin G...
  19. ncbi Activity-regulated cytoskeleton-associated protein Arc/Arg3.1 binds to spectrin and associates with nuclear promyelocytic leukemia (PML) bodies
    Wendy A C Bloomer
    Department of Pharmacology and Cancer Biology, Duke University Medical Center, Durham, NC 27710, USA
    Brain Res 1153:20-33. 2007
    ..These results suggest that Arc functions as a spectrin-binding protein, forming a complex that may provide a role at sites of transcriptional regulation within the nucleus...
  20. pmc betaIV spectrin is recruited to axon initial segments and nodes of Ranvier by ankyrinG
    Yang Yang
    Department of Neuroscience, University of Connecticut Health Center, University of Connecticut, Farmington, CT 06032, USA
    J Cell Biol 176:509-19. 2007
    ..Finally, using adenovirus for transgene delivery into myelinated neurons, we demonstrate that betaIV spectrin recruitment to nodes of Ranvier also depends on binding to ankG...
  21. ncbi Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice
    N J Parkinson
    The Virginia Merrill Bloedel Hearing Research Center, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 29:61-5. 2001
    ..Here we report that quivering mice carry loss-of-function mutations in the mouse beta-spectrin 4 gene (Spnb4) that cause alterations in ion channel localization in myelinated nerves; this provides a rationale for the ..
  22. pmc Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segments
    S M Jenkins
    Howard Hughes Medical Institute and Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
    J Cell Biol 155:739-46. 2001
    ....
  23. pmc [Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier
    Masayuki Komada
    Program in Developmental Biology and Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    J Cell Biol 156:337-48. 2002
    ..These results indicate that betaIV-spectrin and ankyrin-G mutually stabilize the membrane protein cluster and the linked membrane cytoskeleton at AIS and NR...
  24. ncbi BetaIV spectrins are essential for membrane stability and the molecular organization of nodes of Ranvier
    Yang Yang
    Department of Neuroscience, University of Connecticut Health Center, Farmington, Connecticut 06030 3401, USA
    J Neurosci 24:7230-40. 2004
    ..These results show that quivering mutations disrupt betaIV spectrin retention and stability at nodes and that distinct protein domains regulate nodal structural integrity and molecular organization...
  25. pmc BetaIVSigma1 spectrin stabilizes the nodes of Ranvier and axon initial segments
    Sandra Lacas-Gervais
    Medical School, University of Technology Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
    J Cell Biol 166:983-90. 2004
    ..These ultrastructural changes can explain the motor and auditory neuropathies present in betaIVSigma1 -/- mice and point to the betaIVSigma1 spectrin isoform as a master-stabilizing factor of AIS/NR membranes...
  26. ncbi Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA
    Jérôme J Devaux
    Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104 6077, USA
    J Neurosci 25:1470-80. 2005
    ..Thus, the profound reorganization of axonal ion channels and the aberrant expression of novel ion channels likely contribute to the altered conduction in Trembler-J nerves...
  27. ncbi Neurofascin interactions play a critical role in clustering sodium channels, ankyrin G and beta IV spectrin at peripheral nodes of Ranvier
    Darshan Koticha
    W M Keck Center for Collaborative Neuroscience and Department of Cell Biology and Neuroscience, Rutgers University, 604 Allison Road, Piscataway, NJ 08854 8082, USA
    Dev Biol 293:1-12. 2006
    ..The results suggest a critical early role for axonal NF in clustering of Na+ channels at nodes of Ranvier via interactions with receptors on Schwann cells...
  28. ncbi Spectrins and ankyrinB constitute a specialized paranodal cytoskeleton
    Yasuhiro Ogawa
    Department of Neuroscience, University of Connecticut Health Center, Farmington, Connecticut 06030, USA
    J Neurosci 26:5230-9. 2006
    ..Our results demonstrate that the paranodal junction contains specialized cytoskeletal components that may be important to stabilize axon-glia interactions and contribute to the membrane protein diffusion barrier found at paranodes...
  29. ncbi Expression of protein 4.1G in Schwann cells of the peripheral nervous system
    Nobuhiko Ohno
    Department of Anatomy, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Chuo City, Yamanashi, Japan
    J Neurosci Res 84:568-77. 2006
    ..These data support the concept that 4.1G plays an important role in the membrane expansion and specialization that occurs during formation and maintenance of myelin internodes in the peripheral nervous system...
  30. ncbi Specific role of the truncated betaIV-spectrin Sigma6 in sodium channel clustering at axon initial segments and nodes of ranvier
    Yoko Uemoto
    Department of Biological Sciences, Tokyo Institute of Technology, Yokohama 226 8501, Japan
    J Biol Chem 282:6548-55. 2007
    ..We conclude that the truncated betaIV-spectrin isoform Sigma6 plays a specific role in clustering voltage-gated sodium channels, whereas it is dispensable for membrane stabilization at axon initial segments and nodes of Ranvier...
  31. ncbi betaIV-spectrin forms a diffusion barrier against L1CAM at the axon initial segment
    Kazunari Nishimura
    Laboratory for Neuronal Growth Mechanisms, Brain Science Institute, The Institute of Physical and Chemical Research RIKEN, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
    Mol Cell Neurosci 34:422-30. 2007
    ..Our results highlight the role of betaIV-spectrin and ankyrinG as critical components of a selective barrier against L1CAM...
  32. ncbi Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2
    P Chardin
    Institut de Pharmacologie Moleculaire et Cellulaire, CNRS, Valbonne, France
    Science 260:1338-43. 1993
    ..These results suggest that the coupling of receptor tyrosine kinases to Ras signaling is mediated by a molecular complex consisting of GRB2 and hSos1...

Research Grants4

  1. AUDITORY NEUROGENETICS
    BRUCE TEMPEL; Fiscal Year: 2007
    ..During the previous funding period, we used positional cloning techniques to identify mutations in Atp2b2 and Spnb4 in the mouse mutant's deafwaddler and quivering, respectively (Street ea, 1998; Parkinson ea, 2001)...