Genomes and Genes
Gene Symbol: Sptbn1
Description: spectrin beta, non-erythrocytic 1
Alias: 9930031C03Rik, AL033301, SPTB2, Spnb-2, Spnb2, elf1, elf3, mKIAA4049, spectrin beta chain, non-erythrocytic 1, beta fodrin, beta-II spectrin, beta-spectrin 2, non-erythrocytic, brain spectrin, embryonic liver fodrin, fodrin beta chain, non-erythrocytic, spectrin G, spectrin beta 2, spectrin beta chain, brain 1, spectrin, non-erythroid beta chain 1
- Tang Y, Katuri V, Srinivasan R, Fogt F, Redman R, Anand G, et al. Transforming growth factor-beta suppresses nonmetastatic colon cancer through Smad4 and adaptor protein ELF at an early stage of tumorigenesis. Cancer Res. 2005;65:4228-37 pubmed..05) and of Smad4 in advanced colon cancers (P < 0.05). This study indicates that by modulating Smad 4, ELF has a key role in TGF-beta signaling in the suppression of early colon cancer. ..
- Ma Y, Zimmer W, Riederer B, Bloom M, Barker J, Goodman S, et al. The complete amino acid sequence for brain beta spectrin (beta fodrin): relationship to globin sequences. Brain Res Mol Brain Res. 1993;18:87-99 pubmed..In vitro analysis has demonstrated that heme is capable of specific attachment to brain spectrin, suggesting possible new functions in electron transfer, oxygen binding, nitric oxide binding or heme ..
- Golestaneh N, Tang Y, Katuri V, Jogunoori W, Mishra L, Mishra B. Cell cycle deregulation and loss of stem cell phenotype in the subventricular zone of TGF-beta adaptor elf-/- mouse brain. Brain Res. 2006;1108:45-53 pubmed..Previously, we have demonstrated that TGF-beta induces phosphorylation and association of ELF (embryonic liver fodrin) with Smad3 and Smad4 resulting in nuclear translocation...
- Klingenspor M, Bodnar J, Xia Y, Welch C, Lusis A, Reue K. Localization of profilin-1 (Pfn1) and a related sequence (Pfn1-rs) to mouse chromosomes 11 and 15 respectively. Mamm Genome. 1997;8:539-40 pubmed
- Redman R, Katuri V, Tang Y, Dillner A, Mishra B, Mishra L. Orofacial and gastrointestinal hyperplasia and neoplasia in smad4+/- and elf+/-/smad4+/- mutant mice. J Oral Pathol Med. 2005;34:23-9 pubmed..The embryonic liver fodrin (ELF) is a beta-spectrin that facilitates the nuclear translocation of activated Smad4...
- Hyvonen M, Macias M, Nilges M, Oschkinat H, Saraste M, Wilmanns M. Structure of the binding site for inositol phosphates in a PH domain. EMBO J. 1995;14:4676-85 pubmed..They could also participate in a response to a second messenger such as inositol trisphosphate, organizing cross-roads in cellular signalling. ..
- Vosseller K, Trinidad J, Chalkley R, Specht C, Thalhammer A, Lynn A, et al. O-linked N-acetylglucosamine proteomics of postsynaptic density preparations using lectin weak affinity chromatography and mass spectrometry. Mol Cell Proteomics. 2006;5:923-34 pubmed
- Jiang Z, Shih D, Xia Y, Lusis A, de Beer F, de Villiers W, et al. Structure, organization, and chromosomal mapping of the gene encoding macrosialin, a macrophage-restricted protein. Genomics. 1998;50:199-205 pubmed..Although the function of macrosialin is unknown, it might play a role in lipoprotein regulation given its binding of oxidized LDL in vitro and its colocalization to a region on chromosome 11 involved in the control of HDL levels. ..
- Zimmer W, Ma Y, Goodman S. Identification of a mouse brain beta-spectrin cDNA and distribution of its mRNA in adult tissues. Brain Res Bull. 1991;27:187-93 pubmed..The approximately 1.2 Kb brain spectrin cDNA insert hybridized with a single 9 Kb mRNA transcript in various adult mouse tissues, with the most ..
- Osman A, van Kol S, Peijnenburg A, Blokland M, Pennings J, Kleinjans J, et al. Proteomic analysis of mouse thymoma EL4 cells treated with bis(tri-n-butyltin)oxide (TBTO). J Immunotoxicol. 2009;6:174-83 pubmed publisher..These proteins included cytoskeleton proteins myosin-9, spectrin beta 2 and plectin 8. The first two proteins were down-regulated 3-fold, whereas the third was up-regulated 2-fold...
- Ball S, Moseley H, Peters J. Mor2, supernatant malate dehydrogenase, is linked to wa2 and Hba on mouse chromosome 11 in a region of homology with human chromosome 2p. Genomics. 1994;24:399-400 pubmed
- Lengeling A, Zimmer W, Goodman S, Ma Y, Bloom M, Bruneau G, et al. Exclusion of two candidate genes, Spnb-2 and Dcd, for the wobbler spinal muscular atrophy gene on proximal mouse chromosome 11. Mamm Genome. 1994;5:163-6 pubmed
- Smith S, Sturm A, Curran J, Kline C, Little S, Bonilla I, et al. Dysfunction in the Î²II spectrin-dependent cytoskeleton underlies human arrhythmia. Circulation. 2015;131:695-708 pubmed publisher..Our findings identify Î²II spectrin as critical for normal myocyte electric activity, link this molecule to human disease, and provide new insight into the mechanisms underlying cardiac myocyte biology. ..
- Amor V, Zhang C, Vainshtein A, Zhang A, Zollinger D, Eshed Eisenbach Y, et al. The paranodal cytoskeleton clusters Na+ channels at nodes of Ranvier. elife. 2017;6: pubmed publisher..Our results reveal that the paranodal junction-dependent mechanism of Na+channel clustering is mediated by the spectrin-based paranodal axonal cytoskeleton. ..
- Chen J, Yao Z, Chen J, Gi Y, MuÃ±oz N, Kundra S, et al. TGF-Î²/Î²2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. J Clin Invest. 2016;126:527-42 pubmed publisher..Epigenetic silencing of Î²2-spectrin (Î²2SP, encoded by SPTBN1), a SMAD adaptor for TGF-Î² signaling, is causally associated with BWS; however, a role of TGF-Î² deficiency ..
- Katuri V, Tang Y, Li C, Jogunoori W, Deng C, Rashid A, et al. Critical interactions between TGF-beta signaling/ELF, and E-cadherin/beta-catenin mediated tumor suppression. Oncogene. 2006;25:1871-86 pubmed publisher..We found that embryonic liver fodrin (ELF), a beta-Spectrin originally identified in endodermal stem/progenitor cells committed to foregut ..
- Baek H, Lim S, Kitisin K, Jogunoori W, Tang Y, Marshall M, et al. Hepatocellular cancer arises from loss of transforming growth factor beta signaling adaptor protein embryonic liver fodrin through abnormal angiogenesis. Hepatology. 2008;48:1128-37 pubmed publisher..The current study was carried out to investigate mechanisms by which embryonic liver fodrin (ELF), a crucial Smad3/4 adaptor, suppresses liver tumor formation...
- Moskow J, Bullrich F, Huebner K, Daar I, Buchberg A. Meis1, a PBX1-related homeobox gene involved in myeloid leukemia in BXH-2 mice. Mol Cell Biol. 1995;15:5434-43 pubmed..Collectively, these results indicate that altered expression of the homeobox gene Meis1 may be one of the events that lead to tumor formation in BXH-2 mice. ..
- Cole S, Mao M, Johnston S, Vogt T. Identification, expression analysis, and mapping of B3galt6, a putative galactosyl transferase gene with similarity to Drosophila brainiac. Mamm Genome. 2001;12:177-9 pubmed
- Patel Hett S, Wang H, Begonja A, Thon J, Alden E, Wandersee N, et al. The spectrin-based membrane skeleton stabilizes mouse megakaryocyte membrane systems and is essential for proplatelet and platelet formation. Blood. 2011;118:1641-52 pubmed publisher..The results of this study provide evidence for a role for spectrin in different steps of megakaryocyte development through its participation in the formation of invaginated membranes and in the maintenance of proplatelet structure...
- Sihag R, Shea T, Wang F. Spectrin-actin interaction is required for neurite extension in NB 2a/dl neuroblastoma cells. J Neurosci Res. 1996;44:430-7 pubmed..These results suggest that beta-spectrin-actin interaction may be required for neurite extension, which is critical for development of polarity in nerve cells. ..
- Dunwoodie S, Clements M, Sparrow D, Sa X, Conlon R, Beddington R. Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm. Development. 2002;129:1795-806 pubmed
- Wang Z, Liu F, Tu W, Chang Y, Yao J, Wu W, et al. Embryonic liver fodrin involved in hepatic stellate cell activation and formation of regenerative nodule in liver cirrhosis. J Cell Mol Med. 2012;16:118-28 pubmed publisher..Transforming growth factor (TGF) ?(1) plays a critical role in liver fibrosis. Previous studies demonstrated embryonic liver fodrin (ELF), a ?-spectrin was involved in TGF-?/Smad signalling pathway as Smad3/4 adaptor...
- Tang Y, Katuri V, Iqbal S, Narayan T, Wang Z, Lu R, et al. ELF a beta-spectrin is a neuronal precursor cell marker in developing mammalian brain; structure and organization of the elf/beta-G spectrin gene. Oncogene. 2002;21:5255-67 pubmed..It remains unclear as to whether novel beta-spectrins such as elf1-4 are distinct genes or beta-G-spectrin isoforms...
- Wu S, Sangerman J, Li M, Brough G, Goodman S, Stevens T. Essential control of an endothelial cell ISOC by the spectrin membrane skeleton. J Cell Biol. 2001;154:1225-33 pubmed..Results indicate that the spectrin-protein 4.1 interaction selectively controls ISOC, indicating that physical coupling between calcium release and calcium entry is reliant upon the spectrin membrane skeleton. ..
- Zoidl G, Blanchard A, Zoidl C, Dong Z, Brennan A, Parmantier E, et al. Identification of transcriptionally regulated mRNAs from mouse Schwann cell precursors using modified RNA fingerprinting methods. J Neurosci Res. 1997;49:32-42 pubmed
- Yao Z, Jogunoori W, Choufani S, Rashid A, Blake T, Yao W, et al. Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome. J Biol Chem. 2010;285:36112-20 pubmed publisher..name for human is Spectrin, beta, nonerythrocytic 1 (SPTBN1), isoform 2; the official name for mouse is Spectrin beta 2 (Spnb2), isoform 2), a scaffolding protein, functions as a potent TGF-? signaling member adaptor in tumor ..
- Wang Z, Song Y, Tu W, He X, Lin J, Liu F. ?-2 spectrin is involved in hepatocyte proliferation through the interaction of TGF?/Smad and PI3K/AKT signalling. Liver Int. 2012;32:1103-11 pubmed publisher..In addition, PI3K/Akt is involved in TGF?/Smad signalling pathway through the interaction with Smad proteins and ?-2 Spectrin. ..
- Cifuentes Diaz C, Chareyre F, Garcia M, Devaux J, Carnaud M, Levasseur G, et al. Protein 4.1B contributes to the organization of peripheral myelinated axons. PLoS ONE. 2011;6:e25043 pubmed publisher..Thus, our results show that in myelinated axons 4.1B contributes to the stabilization of membrane proteins at paranodes, to the clustering of juxtaparanodal proteins, and to the regulation of the internodal axon caliber. ..
- Bloom M, Lee B, Birkenmeier C, Ma Y, Zimmer W, Goodman S, et al. Brain beta spectrin isoform 235 (Spnb-2) maps to mouse chromosome 11. Mamm Genome. 1992;3:293-5 pubmed
- Chen C, Tsukamoto H, Liu J, Kashiwabara C, Feldman D, Sher L, et al. Reciprocal regulation by TLR4 and TGF-? in tumor-initiating stem-like cells. J Clin Invest. 2013;123:2832-49 pubmed publisher..Mice with defective TGF-? signaling (Spnb2(+/-) mice) exhibited enhanced liver TLR4 expression and developed HCC in a TLR4-dependent manner...
- Zhang C, Susuki K, Zollinger D, Dupree J, Rasband M. Membrane domain organization of myelinated axons requires ?II spectrin. J Cell Biol. 2013;203:437-43 pubmed publisher..Thus, the paranodal spectrin-based submembranous cytoskeleton comprises the paranodal barriers required for myelinated axon domain organization. ..
- Zimmer W, Ma Y, Zagon I, Goodman S. Developmental expression of brain beta-spectrin isoform messenger RNAs. Brain Res. 1992;594:75-83 pubmed..investigated the expression of brain beta SpIIa and beta SpIb (previously referred to as the beta-subunits of brain spectrin (240/235) and brain spectrin (240/235E), respectively) during mouse brain development...
- Ayalon G, Hostettler J, Hoffman J, Kizhatil K, Davis J, Bennett V. Ankyrin-B interactions with spectrin and dynactin-4 are required for dystrophin-based protection of skeletal muscle from exercise injury. J Biol Chem. 2011;286:7370-8 pubmed publisher..Ankyrin-B then interacts with dynactin-4 and dystrophin, whereas dynactin-4 collaborates with dystrophin in coordinating costamere-aligned microtubules. ..
- Mishra L, Cai T, Levine A, Weng D, Mezey E, Mishra B, et al. Identification of elf1, a beta-spectrin, in early mouse liver development. Int J Dev Biol. 1998;42:221-4 pubmed..cDNA libraries from early embryonic mouse livers (post-coital days 10, 11, and 12), we have isolated elf1 (embryonic liver fodrin 1), a differentially expressed beta-spectrin or fodrin (betaSpIIsigmaI)...
- Nilges M, Macias M, O Donoghue S, Oschkinat H. Automated NOESY interpretation with ambiguous distance restraints: the refined NMR solution structure of the pleckstrin homology domain from beta-spectrin. J Mol Biol. 1997;269:408-22 pubmed..The structural core of the protein is unaffected, as evidenced by a backbone root-mean-square difference between the average NMR coordinates and the X-ray crystal structure for the secondary structure elements of less than 0.6 A. ..
- Garcia Fresco G, Sousa A, Pillai A, Moy S, Crawley J, Tessarollo L, et al. Disruption of axo-glial junctions causes cytoskeletal disorganization and degeneration of Purkinje neuron axons. Proc Natl Acad Sci U S A. 2006;103:5137-42 pubmed..Together, these findings establish a physiologically relevant link between AGJs and axonal cytoskeleton and raise the possibility that some neurodegenerative disorders arise from disruption of the AGJs. ..
- Lim J, Baek H, Jang M, Choi E, Lee Y, Lee S, et al. Loss of ?2-spectrin prevents cardiomyocyte differentiation and heart development. Cardiovasc Res. 2014;101:39-47 pubmed publisher..Loss of ?2-spectrin in mice (Spnb2(-/-)) results in embryonic lethality with gastrointestinal, liver, neural, and heart abnormalities that are ..
- Maddala R, Skiba N, Lalane R, Sherman D, Brophy P, Rao P. Periaxin is required for hexagonal geometry and membrane organization of mature lens fibers. Dev Biol. 2011;357:179-90 pubmed publisher..Hence, there may be functional parallels between the roles of Prx in membrane stabilization of the myelin sheath and the lens fiber cell. ..
- Legendre K, Safieddine S, Küssel Andermann P, Petit C, El Amraoui A. alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells. J Cell Sci. 2008;121:3347-56 pubmed publisher..We conclude that the cortical network involved in the sound-induced electromotility of OHCs contains alphaII-betaV spectrin, and not the conventional alphaII-betaII spectrin. ..
- White J, Gerdin A, Karp N, Ryder E, Buljan M, Bussell J, et al. Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell. 2013;154:452-64 pubmed publisher..Phenotypic data and more than 900 mutants are openly available for further analysis. PAPERCLIP: ..
- Muse S, Clark A, Thomas G. Comparisons of the nucleotide substitution process among repetitive segments of the alpha- and beta-spectrin genes. J Mol Evol. 1997;44:492-500 pubmed..We also present new statistical methods for comparing the evolutionary process between different regions of DNA sequences. ..
- Birkenmeier C, Bodine D, Repasky E, Helfman D, Hughes S, Barker J. Remarkable homology among the internal repeats of erythroid and nonerythroid spectrin. Proc Natl Acad Sci U S A. 1985;82:5671-5 pubmed..In this respect, the degree of homology found between them was unexpected. Our data suggest a common evolutionary origin for these two alpha-spectrins and allow some predictions concerning spectrin gene structure. ..
- Robledo R, Ciciotte S, Gwynn B, Sahr K, Gilligan D, Mohandas N, et al. Targeted deletion of alpha-adducin results in absent beta- and gamma-adducin, compensated hemolytic anemia, and lethal hydrocephalus in mice. Blood. 2008;112:4298-307 pubmed publisher..These data indicate that adducin plays a role in RBC membrane stability and in cerebrospinal fluid homeostasis...
- Macias M, Musacchio A, Ponstingl H, Nilges M, Saraste M, Oschkinat H. Structure of the pleckstrin homology domain from beta-spectrin. Nature. 1994;369:675-7 pubmed..There is a distant relationship to the peptidyl-prolyl-cis-trans-isomerase FKBP in which this pocket is involved in the binding of the macrocyclic compound FK506 (refs 8-11). ..
- Tse W, Tang J, Jin O, Korsgren C, John K, Kung A, et al. A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix. J Biol Chem. 2001;276:23974-85 pubmed..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. ..
- Klingenspor M, Bodnar J, Welch C, Xia Y, Lusis A, Reue K. Localization of ubiquitin gene family members to mouse chromosomes 5, 11, and 18. Mamm Genome. 1997;8:789-90 pubmed