SPTBN4

Spectrin, beta, non-erythrocytic 4, also known as SPTBN4, is a protein that in humans is encoded by the SPTBN4 gene.[5][6]

SPTBN4
Identifiers
Aliases	SPTBN4, QV, SPNB4, SPTBN3, spectrin beta, non-erythrocytic 4, CMND, NEDHND
External IDs	OMIM: 606214 MGI: 1890574 HomoloGene: 11879 GeneCards: SPTBN4
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.2 Start 40,466,241 bp[1] End 40,576,464 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 A3|7 15.88 cM Start 27,356,383 bp[2] End 27,447,686 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • phosphatase binding • spectrin binding • structural constituent of cytoskeleton • GO:0001948 protein binding • ankyrin binding • actin binding • phospholipid binding • Ras guanyl-nucleotide exchange factor activity Cellular component • cytoplasm • cytosol • PML body • spectrin • membrane • cell body fiber • nuclear matrix • adherens junction • cell membrane • node of Ranvier • axon • neuronal cell body • cell cortex • axon hillock • axon initial segment • paranode region of axon • extracellular exosome • cytoskeleton • intercalated disc Biological process • clustering of voltage-gated sodium channels • axonogenesis • regulation of sodium ion transport • transmission of nerve impulse • sensory perception of sound • negative regulation of heart rate • MAPK cascade • axon guidance • ER to Golgi vesicle-mediated transport • reproductive process • cellular protein localization • adult behavior • cardiac conduction • regulation of peptidyl-serine phosphorylation • actin filament capping • positive regulation of multicellular organism growth • fertilization • central nervous system projection neuron axonogenesis • vesicle-mediated transport • adult walking behavior • protein localization to plasma membrane • regulation of molecular function • cytoskeleton organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57731	80297
Ensembl	ENSG00000160460	ENSMUSG00000011751
UniProt	Q9H254	n/a
RefSeq (mRNA)	NM_020971 NM_025213	NM_001199234 NM_001199235 NM_001199236 NM_032610
RefSeq (protein)	NP_066022 NP_079489	n/a
Location (UCSC)	Chr 19: 40.47 – 40.58 Mb	Chr 7: 27.36 – 27.45 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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] and DISC1.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000160460 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000011751 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: SPTBN4 spectrin, beta, non-erythrocytic 4".
6. 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.
7. 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.
• 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. 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.