InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: NEB

Summary

InnateDB Gene

IDBG-641805.3

Last Modified

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

Gene Symbol

NEB

Gene Name

Uncharacterized protein

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000006907

Encoded Proteins

IDBP-694278

nebulin

IDBP-694433

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 2:44546002-44754701

Strand

Forward strand

Band

Transcripts

ENSBTAT00000055345	ENSBTAP00000048846
ENSBTAT00000061000	ENSBTAP00000053520

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 23 interaction(s) predicted by orthology.

Predicted by orthology
Total	23 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding

Biological Process

Cellular Component

GO:0030018	Z disc
GO:0043292	contractile fiber

Orthologs

Species

Homo sapiens

Mus musculus

Gene ID

Gene Order

ENSG00000183091

View Gene Order

ENSMUSG00000026950

View Gene Order

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

F1MQI3 F1MT60

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

HUGO

HGNC:7720

OMIM

CCDS

HPRD

IMGT

EMBL

DAAA02004601 DAAA02004602 DAAA02004603 DAAA02004604 DAAA02004605 DAAA02004606

GenPept

RNA Seq Atlas