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NEB
HPA
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PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

NEB
Synonyms NEB177D, NEM2
Gene descriptioni

Full gene name according to HGNC.

Nebulin
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 2
Cytoband q23.3
Chromosome location (bp) 151485336 - 151734487
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

11
Ensembl ENSG00000183091 (version 109)
Entrez gene 4703
HGNC HGNC:7720
UniProt P20929 (UniProt - Evidence at protein level)
neXtProt NX_P20929
GeneCards NEB
Antibodypedia NEB antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Actin-binding, Muscle protein
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
NEB-201
ENSP00000380498
ENST00000397337
H0Y3P5
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
Show all
659 aa
74.7 kDa
No 0
NEB-202
ENSP00000380505
ENST00000397345
P20929
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0007517 [muscle organ development]
GO:0007525 [somatic muscle development]
GO:0008307 [structural constituent of muscle]
GO:0015629 [actin cytoskeleton]
GO:0030017 [sarcomere]
GO:0030018 [Z disc]
GO:0030832 [regulation of actin filament length]
GO:0043292 [contractile fiber]
GO:0051015 [actin filament binding]
GO:0070062 [extracellular exosome]
GO:0071691 [cardiac muscle thin filament assembly]
Show all
8525 aa
986.7 kDa
No 0
NEB-203
ENSP00000386259
ENST00000409198
P20929
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0007517 [muscle organ development]
GO:0007525 [somatic muscle development]
GO:0008307 [structural constituent of muscle]
GO:0015629 [actin cytoskeleton]
GO:0030017 [sarcomere]
GO:0030018 [Z disc]
GO:0030832 [regulation of actin filament length]
GO:0051015 [actin filament binding]
GO:0070062 [extracellular exosome]
GO:0071691 [cardiac muscle thin filament assembly]
Show all
6669 aa
772.9 kDa
No 0
NEB-204
ENSP00000410961
ENST00000413693
H0Y786
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
Show all
3007 aa
348.9 kDa
No 0
NEB-205
ENSP00000408570
ENST00000421461
H7C2Z5
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005737 [cytoplasm]
Show all
401 aa
45.4 kDa
No 0
NEB-206
ENSP00000404876
ENST00000424585
H7C2B3
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005737 [cytoplasm]
Show all
255 aa
28.8 kDa
No 0
NEB-207
ENSP00000416578
ENST00000427231
P20929
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0007517 [muscle organ development]
GO:0007525 [somatic muscle development]
GO:0008307 [structural constituent of muscle]
GO:0015629 [actin cytoskeleton]
GO:0030017 [sarcomere]
GO:0030018 [Z disc]
GO:0030832 [regulation of actin filament length]
GO:0051015 [actin filament binding]
GO:0070062 [extracellular exosome]
GO:0071691 [cardiac muscle thin filament assembly]
Show all
8525 aa
986.7 kDa
No 0
NEB-208
ENSP00000389074
ENST00000434685
H7BZD5
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
Show all
1295 aa
150.3 kDa
No 0
NEB-217
ENSP00000509628
ENST00000688578
A0A8I5KS37
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
Show all
725 aa
82.3 kDa
No 0
NEB-219
ENSP00000509961
ENST00000690043
A0A8I5QJN4
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
Show all
2427 aa
282.5 kDa
No 0
NEB-221
ENSP00000509795
ENST00000693286
A0A8I5KYD3
[Direct mapping] Nebulin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutational cancer driver genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Musculoskeletal diseases
   Muscular diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005737 [cytoplasm]
Show all
573 aa
66.6 kDa
No 0

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