InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NEB

Summary

InnateDB Protein

IDBP-294047.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NEB

Protein Name

nebulin

Synonyms

NEB177D; NEM2;

Species

Homo sapiens

Ensembl Protein

ENSP00000386259

InnateDB Gene

IDBG-72258 (NEB)

Protein Structure

UniProt Annotation

Function

This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.

Subcellular Localization

Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton.

Disease Associations

Nemaline myopathy 2 (NEM2) [MIM:256030]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. {ECO:0000269PubMed:10051637}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Muscle specific. Located in the thin filament of striated muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.

Experimentally validated
Total	31 [view]
Protein-Protein	31 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding
GO:0008307	structural constituent of muscle

Biological Process

GO:0007517	muscle organ development
GO:0007525	somatic muscle development
GO:0030049	muscle filament sliding
GO:0030832	regulation of actin filament length
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005829	cytosol
GO:0015629	actin cytoskeleton
GO:0030018	Z disc
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000900 Nebulin repeat
IPR001452 SH3 domain
IPR008927 6-phosphogluconate dehydrogenase, C-terminal-like
IPR008966 Adhesion domain
IPR011511 Variant SH3 domain
IPR013998 Nebulin

PFAM

PF00880
PF00018
PF14604
PF07653

PRINTS

PR00452
PR00510

PIRSF

SMART

SM00227
SM00326

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt