SPTBN1
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SPTBN1
Spectrin beta chain, brain 1 is a protein that in humans is encoded by the ''SPTBN1'' gene. 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. Interactions SPTBN1 has been shown to Protein-protein interaction, interact with Merlin (protein), Merlin. Model organisms Model organisms have been used in the study of spectrin function. A conditional knockout mouse line, called ''Spnb2tm1a(EUCOMM)Wtsi'' was generated as part of the Internationa ...
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Merlin (protein)
Merlin (also called Neurofibromin 2 or schwannomin) is a cytoskeletal protein. In humans, it is a tumor suppressor protein involved in neurofibromatosis type II. Sequence data reveal its similarity to the ERM protein family. The name "merlin" is an acronym for "Moesin-Ezrin-Radixin-Like Protein". Gene Human merlin is coded by the gene ''NF2'' in Chromosome 22. Mouse merlin gene is located on chromosome 11 and rat merlin gene on chromosome 17. Fruit fly merlin gene (symbol ''Mer'') is located on chromosome 1 and shares 58% similarity to its human homologue. Other merlin-like genes are known from a wide range of animals, and the derivation of merlin is thought to be in early metazoa. Merlin is a member of the ERM family of proteins including ezrin, moesin, and radixin, which are in the protein 4.1 superfamily of proteins. Merlin is also known as ''schwannomin'', a name derived from the most common type of tumor in the NF2 patient phenotype, the schwannoma. Structure Vertebrate ...
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