Nebulin

Source: Wikipedia, the free encyclopedia.
NEB
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_001164507
NM_001164508
NM_001271208
NM_004543

NM_010889

RefSeq (protein)

NP_001157979
NP_001157980
NP_001258137
NP_004534
NP_004534.2

n/a

Location (UCSC)Chr 2: 151.49 – 151.73 MbChr 2: 52.14 – 52.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Nebulin

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 and acts as the coats the actin filament.[6] Other functions of nebulin, such as a role in cell signaling
, remain uncertain.

Nebulin has also been shown to regulate actin-myosin interactions by inhibiting ATPase activity in a calcium-calmodulin sensitive manner.[7]

autosomal recessive disorder nemaline myopathy.[8]

A smaller member of the nebulin protein family, termed nebulette, is expressed in cardiac muscle.

Structure

The structure of the

protein nuclear magnetic resonance spectroscopy.[9] The SH3 domain from nebulin is composed of 60 amino acid residues, of which 30 percent is in the beta sheet
secondary structure (7 strands; 18 residues).

Knockout phenotype

As of 2007, two

.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183091Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026950Ensembl, 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. PMID 6997874
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Further reading

External links