Nebulin - CISMeF

Preferred Label : Nebulin;

NCIt synonyms : NEB;

NCIt definition : Nebulin (6669 aa, 773 kDa) is encoded by the human NEB gene. This protein is involved in binding to F-actin within the sarcomeres of skeletal muscle.;

NCIt note : Nebulin is a giant protein that may account for 3-4% of the total myofibrillar protein. Human isoform sizes vary from 700 to almost 1000 kDa and are expressed in a tissue-, and developmental stage-specific manner. The variety of nebulin isoforms is thought to contribute to the molecular diversity of Z discs. (OMIM);

Details

Origin ID

C203908;

UMLS CUI

C1610937;

OMIM relation
- Nebulin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- NEB protein, human [MeSH concept]
gene_encodes_gene_product
- Cytoskeletal Gene [NCIt concept]
- NEB Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
gene_product_expressed_in_tissue
- Striated Muscle Tissue [NCIt concept]
gene_product_has_associated_anatomy
- Cytoskeleton [NCIt concept]
- Myofilament [NCIt concept]
- Sarcomere [NCIt concept]
gene_product_has_biochemical_function
- Actin-Binding Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- SH3 Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Myogenesis [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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