Q62412 · Q62412_MOUSE
- ProteinNebulin
- GeneNeb
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1190 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score2/5
Publications for Q62412
Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33.
- CategorySequences
- SourceMGI: 97292
The murine endoglin gene (Eng) maps to chromosome 2.
- CategoriesFunction, Sequences
- SourceMGI: 97292
Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.
- AnnotationAberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.
- CategoryFunction
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
- CategoryPhenotypes & Variants
- SourceMGI: 97292
Structures from intact myofibrils reveal mechanism of thin filament regulation through nebulin.
- AnnotationStructures from intact myofibrils reveal mechanism of thin filament regulation through nebulin.
- CategoriesFamily & Domains, Interaction, Structure
- SourceGeneRif: 17996
Nebulin and Lmod2 are critical for specifying thin-filament length in skeletal muscle.
- CategoryFunction
- SourceMGI: 97292
Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.
- AnnotationTriggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.
- CategoriesFunction, Phenotypes & Variants
Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice.
- AnnotationBioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice.
- CategoryPhenotypes & Variants
- SourceGeneRif: 17996
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
- AnnotationNebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
- CategoryPhenotypes & Variants
In vivo characterization of skeletal muscle function in nebulin-deficient mice.
- AnnotationStudy found that adult nebulin-deficient mice displayed severe muscle atrophy and weakness in vivo related to a low nebulin content but an improved fatigue resistance due to a slower contractile phenotype.
- CategoriesFunction, Phenotypes & Variants
Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy.
- AnnotationTo study the functions of nebulin's C-terminus we generated a mouse model deleting the final two unique C-terminal domains the serine-rich region (SRR) and the SH3 domain (NebDelta163-165).
- CategoriesFunction, Phenotypes & Variants
Nebulin increases thin filament stiffness and force per cross-bridge in slow-twitch soleus muscle fibers.
- AnnotationMuscle fibers are weak in the absence of Neb in particular when large tension develops which may structurally damage the thin filament when Neb is absent.
- CategoryFunction
- SourceGeneRif: 17996
KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination.
- CategoryFunction
- SourceMGI: 97292
Mutation-specific effects on thin filament length in thin filament myopathy.
- CategoryFunction
- SourceMGI: 97292
Nebulin deficiency in adult muscle causes sarcomere defects and muscle- type-dependent changes in trophicity: novel insights in nemaline myopathy.
- AnnotationNebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity
- CategorySequences
Transgenic mice expressing mutant Pinin exhibit muscular dystrophy, nebulin deficiency and elevated expression of slow-type muscle fiber genes.
- AnnotationPnn downregulation in skeletal muscle causes a muscular dystrophic phenotype associated with NEB deficiency and the CCD domain is incapable of replacing full length Pnn in terms of functional capacity.
- CategoriesFunction, Interaction
The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.
- AnnotationNebulin SH3 domain protects against eccentric contraction-induced injury and possibly plays a role in fine-tuning the excitation-contraction coupling mechanism.
- CategoryInteraction