NEB

Also known as nebulin, NEB177D, NEM2, AMC6

Nebulin is an actin-binding protein which is localized to the thin filament of the sarcomeres in skeletal muscle. Nebulin in humans is coded for by the gene NEB. It is a very large protein (600–900 kDa) and binds as many as 200 actin monomers. Because its length is proportional to thin filament length, it is believed that nebulin acts as a thin filament "ruler" and regulates thin filament length during sarcomere assembly. Other functions of nebulin, such as a role in cell signaling, remain uncertain.

Gene data

NEB

Name: nebulin
Type: protein-coding
Position: 151,485,336–151,734,487 (−)
Aliases: AMC6, NEB177D, NEM2
Ensembl: ENSG00000183091
RefSeq RNA: NM_001164507.2, NM_001164508.2, NM_001271208.2, NM_004543.5, XM_005246590.3
RefSeq protein: NP_001157979.2, NP_001157980.2, NP_001258137.2, NP_004534.3, XP_005246647.1

This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009].