SPTBN4: 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 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. [provided by RefSeq, Jul 2008]
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 19q13.13
Cellular Component: adherens junction; axon hillock; cell soma; cytoplasm; cytosol; membrane; nuclear matrix; paranode region of axon; plasma membrane; PML body; spectrin
Molecular Function: actin binding; ankyrin binding; phosphatase binding; phospholipid binding; protein binding; spectrin binding; structural constituent of cytoskeleton
Biological Process: actin filament capping; activation of MAPKK activity; adult walking behavior; axon guidance; axonogenesis; cellular protein metabolic process; central nervous system projection neuron axonogenesis; clustering of voltage-gated sodium channels; cytoskeletal anchoring; epidermal growth factor receptor signaling pathway; ER to Golgi vesicle-mediated transport; fertilization; fibroblast growth factor receptor signaling pathway; innate immune response; insulin receptor signaling pathway; MAPKKK cascade; negative regulation of heart rate; nerve growth factor receptor signaling pathway; positive regulation of multicellular organism growth; post-translational protein modification; protein amino acid N-linked glycosylation via asparagine; Ras protein signal transduction; regulation of peptidyl-serine phosphorylation; regulation of sodium ion transport; sensory perception of sound; small GTPase mediated signal transduction; transmission of nerve impulse; vascular endothelial growth factor receptor signaling pathway; vesicle-mediated transport
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