SPTBN1

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. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats that are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene.

SPTBN1 has been shown to interact with Merlin.{{cite journal | vauthors = Neill GW, Crompton MR | title = Binding of the merlin-I product of the neurofibromatosis type 2 tumour suppressor gene to a novel site in beta-fodrin is regulated by association between merlin domains | journal = Biochem. J. | volume = 358 | issue = Pt 3 | pages = 727–35 | date = September 2001 | pmid = 11535133 | pmc = 1222106 | doi = 10.1042/0264-6021:3580727 }}

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• {{cite journal | vauthors = Hu RJ, Watanabe M, Bennett V | title = Characterization of human brain cDNA encoding the general isoform of beta-spectrin. | journal = J. Biol. Chem. | volume = 267 | issue = 26 | pages = 18715–22 | year = 1992 | doi = 10.1016/S0021-9258(19)37020-6 | pmid = 1527002 | doi-access = free }}
• {{cite journal | vauthors = Yoon SH, Skalka H, Prchal JT | title = Presence of erythroid and nonerythroid spectrin transcripts in human lens and cerebellum. | journal = Invest. Ophthalmol. Vis. Sci. | volume = 30 | issue = 8 | pages = 1860–6 | year = 1989 | pmid = 2474519 }}
• {{cite journal | vauthors = Chang JG, Scarpa A, Eddy RL, Byers MG, Harris AS, Morrow JS, Watkins P, Shows TB, Forget BG | title = Cloning of a portion of the chromosomal gene and cDNA for human beta-fodrin, the nonerythroid form of beta-spectrin. | journal = Genomics | volume = 17 | issue = 2 | pages = 287–93 | year = 1993 | pmid = 8406479 | doi = 10.1006/geno.1993.1323 | doi-access = free }}
• {{cite journal | vauthors = Shimizu T, Takakuwa Y, Koizumi H, Ishibashi T, Ohkawara A | title = Calcium-dependent peripheral localization of 4.1-like proteins and fodrin in cultured human keratinocytes. | journal = Biol. Cell | volume = 86 | issue = 1 | pages = 19–26 | year = 1996 | pmid = 8688828 | doi = 10.1016/0248-4900(96)89520-7 }}
• {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery. | journal = Genome Res. | volume = 6 | issue = 9 | pages = 791–806 | year = 1997 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 | doi-access = free }}
• {{cite journal | vauthors = Holleran EA, Tokito MK, Karki S, Holzbaur EL | title = Centractin (ARP1) associates with spectrin revealing a potential mechanism to link dynactin to intracellular organelles. | journal = J. Cell Biol. | volume = 135 | issue = 6 Pt 2 | pages = 1815–29 | year = 1997 | pmid = 8991093 | pmc = 2133946 | doi = 10.1083/jcb.135.6.1815 }}
• {{cite journal | vauthors = Djinovic Carugo K, Bañuelos S, Saraste M | title = Crystal structure of a calponin homology domain. | journal = Nat. Struct. Biol. | volume = 4 | issue = 3 | pages = 175–9 | year = 1997 | pmid = 9164454 | doi = 10.1038/nsb0397-175 | s2cid = 1428195 }}
• {{cite journal | vauthors = Scoles DR, Huynh DP, Morcos PA, Coulsell ER, Robinson NG, Tamanoi F, Pulst SM | title = Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. | journal = Nat. Genet. | volume = 18 | issue = 4 | pages = 354–9 | year = 1998 | pmid = 9537418 | doi = 10.1038/ng0498-354 | s2cid = 30709629 }}
• {{cite journal | vauthors = Sihag RK | title = Brain beta-spectrin phosphorylation: phosphate analysis and identification of threonine-347 as a heparin-sensitive protein kinase phosphorylation site. | journal = J. Neurochem. | volume = 71 | issue = 5 | pages = 2220–8 | year = 1998 | pmid = 9798950 | doi = 10.1046/j.1471-4159.1998.71052220.x | s2cid = 23703252 | doi-access = free }}
• {{cite journal | vauthors = Bañuelos S, Saraste M, Djinović Carugo K | title = Structural comparisons of calponin homology domains: implications for actin binding. | journal = Structure | volume = 6 | issue = 11 | pages = 1419–31 | year = 1999 | pmid = 9817844 | doi = 10.1016/S0969-2126(98)00141-5 | doi-access = free }}
• {{cite journal | vauthors = Löfvenberg L, Backman L | title = Calpain-induced proteolysis of beta-spectrins. | journal = FEBS Lett. | volume = 443 | issue = 2 | pages = 89–92 | year = 1999 | pmid = 9989581 | doi = 10.1016/S0014-5793(98)01697-4 | s2cid = 85055199 | doi-access = free }}
• {{cite journal | vauthors = Hayes NV, Scott C, Heerkens E, Ohanian V, Maggs AM, Pinder JC, Kordeli E, Baines AJ | title = Identification of a novel C-terminal variant of beta II spectrin: two isoforms of beta II spectrin have distinct intracellular locations and activities. | journal = J. Cell Sci. | volume = 113 | issue = 11 | pages = 2023–34 | year = 2000 | doi = 10.1242/jcs.113.11.2023 | pmid = 10806113 }}
• {{cite journal | vauthors = Kontrogianni-Konstantopoulos A, Frye CS, Benz EJ, Huang SC | title = The prototypical 4.1R-10-kDa domain and the 4.1g-10-kDa paralog mediate fodrin-actin complex formation. | journal = J. Biol. Chem. | volume = 276 | issue = 23 | pages = 20679–87 | year = 2001 | pmid = 11274145 | doi = 10.1074/jbc.M010581200 | doi-access = free}}
• {{cite journal | vauthors = Neill GW, Crompton MR | title = Binding of the merlin-I product of the neurofibromatosis type 2 tumour suppressor gene to a novel site in beta-fodrin is regulated by association between merlin domains. | journal = Biochem. J. | volume = 358 | issue = Pt 3 | pages = 727–35 | year = 2001 | pmid = 11535133 | pmc = 1222106 | doi = 10.1042/0264-6021:3580727 }}
• {{cite journal | vauthors = Chen Y, Yu P, Lu D, Tagle DA, Cai T | title = A novel isoform of beta-spectrin II localizes to cerebellar Purkinje-cell bodies and interacts with neurofibromatosis type 2 gene product schwannomin. | journal = J. Mol. Neurosci. | volume = 17 | issue = 1 | pages = 59–70 | year = 2002 | pmid = 11665863 | doi = 10.1385/JMN:17:1:59 | s2cid = 6524087 }}
• {{cite journal | vauthors = Shoeman RL, Hartig R, Hauses C, Traub P | title = Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease. | journal = Cell Biol. Int. | volume = 26 | issue = 6 | pages = 529–39 | year = 2003 | pmid = 12119179 | doi = 10.1006/cbir.2002.0895 | s2cid = 39778155 }}
• {{cite journal | vauthors = Tomsig JL, Snyder SL, Creutz CE | title = Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif. | journal = J. Biol. Chem. | volume = 278 | issue = 12 | pages = 10048–54 | year = 2003 | pmid = 12522145 | doi = 10.1074/jbc.M212632200 | doi-access = free }}
• {{cite journal | vauthors = Tang Y, Katuri V, Dillner A, Mishra B, Deng CX, Mishra L | title = Disruption of transforming growth factor-beta signaling in ELF beta-spectrin-deficient mice. | journal = Science | volume = 299 | issue = 5606 | pages = 574–7 | year = 2003 | pmid = 12543979 | doi = 10.1126/science.1075994 | bibcode = 2003Sci...299..574T | s2cid = 83664290 | url = https://zenodo.org/record/1230816 }}
• {{cite journal | vauthors = Robb VA, Li W, Gascard P, Perry A, Mohandas N, Gutmann DH | title = Identification of a third Protein 4.1 tumor suppressor, Protein 4.1R, in meningioma pathogenesis. | journal = Neurobiol. Dis. | volume = 13 | issue = 3 | pages = 191–202 | year = 2003 | pmid = 12901833 | doi = 10.1016/S0969-9961(03)00071-8 | s2cid = 46574223 | url = https://digital.library.unt.edu/ark:/67531/metadc788568/m2/1/high_res_d/823076.pdf }}

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Category:Genes mutated in mice