Version 5.4
Mus musculus Gene: Neb
Summary
InnateDB Gene IDBG-169739.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Neb
Gene Name nebulin
Synonyms AI595938
Species Mus musculus
Ensembl Gene ENSMUSG00000026950
Encoded Proteins
IDBP-169743
nebulin
IDBP-169745
nebulin
IDBP-169747
nebulin
IDBP-537956
nebulin
IDBP-626783
nebulin
IDBP-537443
nebulin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000183091:
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4%% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:52136647-52338798
Strand Reverse strand
Band C1.1
Transcripts
ENSMUST00000036934 ENSMUSP00000047763
ENSMUST00000075301 ENSMUSP00000074773
ENSMUST00000028320 ENSMUSP00000028320
ENSMUST00000137410
ENSMUST00000135200 ENSMUSP00000118735
ENSMUST00000152851
ENSMUST00000131236
ENSMUST00000148356 ENSMUSP00000133401
ENSMUST00000139672 ENSMUSP00000121411
ENSMUST00000127339
ENSMUST00000136769
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 27 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 27 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
Biological Process
GO:0030832 regulation of actin filament length
GO:0045214 sarcomere organization
Cellular Component
GO:0005865 striated muscle thin filament
GO:0030018 Z disc
GO:0043234 protein complex
GO:0043292 contractile fiber
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000183091
View Gene Order
ENSBTAG00000006907
Not yet available
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_16969
Striated Muscle Contraction pathway
REACT_17044
Muscle contraction pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.389247
RefSeq NM_010889
OMIM
CCDS CCDS50584
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca