NEBL Gene Summary [Human]
This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | NEBL |
| Official Name | nebulette [Source:HGNC Symbol;Acc:HGNC:16932] |
| Ensembl ID | ENSG00000078114 |
| Bio databases IDs | |
| Aliases | nebulette, LIM and SH3 protein 2, LIM-nebulette |
| Synonyms | 1200007O21RIK, A630080F05RIK, bA165O3.1, BB140644, C10orf113, D830029A09Rik, LASP2, LIM-NEBULETTE, LNEBL, Nebl predicted, nebulette |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NEBL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin filament binding
- cytoskeletal protein binding
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- tropomyosin binding
- protein binding
- Src Homology 3 domain superfamily
- Nebulin repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- atrial fibrillation
- dilated cardiomyopathy
- chronic obstructive pulmonary disease
- diabetic nephropathy
- endocardial fibroelastosis
- non-small cell lung cancer
- heart failure
- exercise intolerance
- coronary aneurysm
role in cell
- migration
- invasion by
- stabilization
- formation
- arborization
- binding in
- stabilization in
- abnormal morphology
- arborization in
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- focal adhesions
- myofilaments
- Z line
- actin stress fibers
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NEBL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cardiac muscle thin filament assembly
Cellular Component
Where in the cell the gene product is active
- Z disc
- extracellular vesicular exosome
- stress fiber
- I band
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein binding
- structural constituent of muscle
- cytoskeletal protein binding
- tropomyosin binding
- filamin binding