SPTBN1 explained

Spectrin beta chain, brain 1 is a protein that in humans is encoded by the SPTBN1 gene.^[1]

Function

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.^[1]

Interactions

SPTBN1 has been shown to interact with Merlin.^[2]

Further reading

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

Notes and References

1. Web site: Entrez Gene: SPTBN1 spectrin, beta, non-erythrocytic 1.
2. Neill GW, Crompton MR . 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 . Biochem. J. . 358 . Pt 3 . 727–35 . September 2001 . 11535133 . 1222106 . 10.1042/0264-6021:3580727 .