NEBL
Sign in to saveAlso known as nebulette, LASP2, LNEBL
Nebulette is a cardiac-specific isoform belonging to the nebulin family of proteins. It is encoded by the NEBL gene. This family is composed of 5 members: nebulette, nebulin, N-RAP, LASP-1 and LASP-2. Nebulette localizes to Z-discs of cardiac muscle and appears to regulate the length of actin thin filaments.
Gene data
NEBL- Name
- nebulette
- Type
- protein-coding
- Position
- 20,779,973–21,293,011 (−)
- Aliases
- C10orf113, LASP2, LNEBL, bA165O3.1
- Ensembl
- ENSG00000078114
- RefSeq RNA
- NM_001010896.2, NM_001173484.2, NM_001177483.1, NM_001377322.1, NM_001377323.1
- RefSeq protein
- NP_001166955.1, NP_001364251.1, NP_001364252.1, NP_001364253.1, NP_001364254.1
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].
Gene Ontology
Molecular function
via MyGene.info
Gene · Ensembl
nebulette
- Symbol
- NEBL
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:20,779,973-21,293,011
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~2 min read
Encyclopedic overview
5 sectionsContents
- Structure
- Function
- Clinical significance
- References
- External links
Nebulette is a cardiac-specific isoform belonging to the nebulin family of proteins. It is encoded by the NEBL gene. This family is composed of 5 members: nebulette, nebulin, N-RAP, LASP-1 and LASP-2. Nebulette localizes to Z-discs of cardiac muscle and appears to regulate the length of actin thin filaments.
== Structure ==
Excerpted from Wikipedia’s “NEBL” article, available under the CC BY-SA 4.0 licence.