Nebulin
| NEB | |||
|---|---|---|---|
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt |
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| RefSeq (mRNA) | |||||||||
| RefSeq (protein) |
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| Location (UCSC) | Chr 2: 151.49 – 151.73 Mb | Chr 2: 52.14 – 52.38 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Nebulinsarcomeres 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.[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
animal models of nemaline myopathy
.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000183091 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026950 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 6997874.
- PMID 12837582.
- PMID 7918483.
- PMID 10051637.
- PMID 9514727.
- PMID 16769824.
- PMID 16902413.
Further reading
- Björklund AK, Light S, Sagit R, Elofsson A (September 2010). "Nebulin: a study of protein repeat evolution". Journal of Molecular Biology. 402 (1): 38–51. PMID 20643138.
External links
- nebulin at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- GeneReviews/NCBI/NIH/UW entry on Nemaline Myopathy
- PDBe-KB provides an overview of all the structure information available in the PDB for Human Nebulin