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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: 19q13.2
Cellular Component: adherens junction; axon hillock; cell soma; cytoplasm; cytosol; membrane; nuclear matrix; plasma membrane; PML body; spectrin
Molecular Function: actin binding; ankyrin binding; phosphatase binding; protein binding; Ras guanyl-nucleotide exchange factor activity; spectrin binding; structural constituent of cytoskeleton
Biological Process: adult walking behavior; axon guidance; axonogenesis; central nervous system projection neuron axonogenesis; clustering of voltage-gated sodium channels; cytoskeletal anchoring; ER to Golgi vesicle-mediated transport; MAPKKK cascade; negative regulation of heart rate; regulation of peptidyl-serine phosphorylation; regulation of sodium ion transport; sensory perception of sound; transmission of nerve impulse; vesicle-mediated transport
Disease: Myopathy, Congenital, With Neuropathy And Deafness
Reference #:  Q9H254 (UniProtKB)
Alt. Names/Synonyms: Beta-IV spectrin; betaIV spectrin; KIAA1642; QV; Spectrin beta chain, brain 3; spectrin, beta, non-erythrocytic 4; Spectrin, non-erythroid beta chain 3; SPNB4; SPTBN3; SPTBN4; SPTN4
Gene Symbols: SPTBN4
Molecular weight: 288,985 Da
Basal Isoelectric point: 5.72  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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