SPTBN4
Protein-coding gene in the species Homo sapiens
Spectrin, beta, non-erythrocytic 4 , also known as SPTBN4 , is a protein that in humans is encoded by the SPTBN4 gene .[ 5] [ 6]
Spectrin is an actin crosslinking and molecular scaffold protein that links the cell 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 localizes to the nuclear matrix , PML nuclear bodies, and cytoplasmic vesicles . A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene.[ 5]
Interactions
SPTBN4 has been shown to interact with PTPRN [ 6] DISC1 .[ 7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000160460 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000011751 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: SPTBN4 spectrin, beta, non-erythrocytic 4" .^ a b Berghs S, Aggujaro D, Dirkx R, Maksimova E, Stabach P, Hermel JM, Zhang JP, Philbrick W, Slepnev V, Ort T, Solimena M (November 2000). "betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system" . J. Cell Biol . 151 (5): 985–1002. doi :10.1083/jcb.151.5.985 . PMC 2174349 PMID 11086001 . ^ Morris JA, Kandpal G, Ma L, Austin CP (Jul 2003). "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" . Hum. Mol. Genet . 12 (13): 1591–608. doi :10.1093/hmg/ddg162 PMID 12812986 .
Further reading
Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro" . DNA Res . 7 (4): 273–81. doi :10.1093/dnares/7.4.271 PMID 10997877 . Berghs S, Aggujaro D, Dirkx R, Maksimova E, Stabach P, Hermel JM, Zhang JP, Philbrick W, Slepnev V, Ort T, Solimena M (2001). "betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system" . J. Cell Biol . 151 (5): 985–1002. doi :10.1083/jcb.151.5.985 . PMC 2174349 PMID 11086001 . Tse WT, Tang J, Jin O, Korsgren C, John KM, Kung AL, Gwynn B, Peters LL, Lux SE (2001). "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 . 276 (26): 23974–85. doi :10.1074/jbc.M009307200 PMID 11294830 . Komada M, Soriano P (2002). "[Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier" . J. Cell Biol . 156 (2): 337–48. doi :10.1083/jcb.200110003 . PMC 2199236 PMID 11807096 . Shoeman RL, Hartig R, Hauses C, Traub P (2003). "Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease". Cell Biol. Int . 26 (6): 529–39. doi :10.1006/cbir.2002.0895 . PMID 12119179 . S2CID 39778155 . Nakayama M, Kikuno R, Ohara O (2003). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs" . Genome Res . 12 (11): 1773–84. doi :10.1101/gr.406902 . PMC 187542 PMID 12421765 . Ozeki Y, Tomoda T, Kleiderlein J, Kamiya A, Bord L, Fujii K, Okawa M, Yamada N, Hatten ME, Snyder SH, Ross CA, Sawa A (2003). "Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth" . Proc. Natl. Acad. Sci. U.S.A . 100 (1): 289–94. Bibcode :2003PNAS..100..289O . doi :10.1073/pnas.0136913100 PMC 140954 PMID 12506198 . Morris JA, Kandpal G, Ma L, Austin CP (2004). "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" . Hum. Mol. Genet . 12 (13): 1591–608. doi :10.1093/hmg/ddg162 PMID 12812986 . Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks" . Cell . 127 (3): 635–48. doi :10.1016/j.cell.2006.09.026 PMID 17081983 . S2CID 7827573 .
