Type |
Details |
Score |
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
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|
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•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
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|
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•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
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|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
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|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
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•
•
•
•
•
|
Allele |
Name: |
xin actin-binding repeat containing 2; targeted mutation 1, inGenious Targeting Laboratory |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, Hypomorph |
|
•
•
•
•
•
|
Allele |
Name: |
xin actin-binding repeat containing 2; targeted mutation 1.1, inGenious Targeting Laboratory |
Allele Type: |
Targeted |
Attribute String: |
Hypomorph |
|
•
•
•
•
•
|
Publication |
First Author: |
Ottenheijm CA |
Year: |
2010 |
Journal: |
Physiology (Bethesda) |
Title: |
Lifting the nebula: novel insights into skeletal muscle contractility. |
Volume: |
25 |
Issue: |
5 |
Pages: |
304-10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chu M |
Year: |
2016 |
Journal: |
J Exp Biol |
Title: |
Nebulin, a multi-functional giant. |
Volume: |
219 |
Issue: |
Pt 2 |
Pages: |
146-52 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen Y |
Year: |
2020 |
Journal: |
J Mol Cell Cardiol |
Title: |
Identifying modifier genes for hypertrophic cardiomyopathy. |
Volume: |
144 |
|
Pages: |
119-126 |
|
•
•
•
•
•
|
Publication |
First Author: |
Carroll S |
Year: |
2004 |
Journal: |
J Cell Sci |
Title: |
N-RAP scaffolds I-Z-I assembly during myofibrillogenesis in cultured chick cardiomyocytes. |
Volume: |
117 |
Issue: |
Pt 1 |
Pages: |
105-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Carroll SL |
Year: |
2001 |
Journal: |
J Cell Sci |
Title: |
Targeting and functional role of N-RAP, a nebulin-related LIM protein, during myofibril assembly in cultured chick cardiomyocytes. |
Volume: |
114 |
Issue: |
Pt 23 |
Pages: |
4229-38 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
Nebulin is a giant filamentous protein (600-900 kD) that plays a role in numerous cellular processes including regulation of muscle contraction, Z-disc formation, and myofibril organization and assembly in skeletal muscle. It contains an N-terminal LIM domain, many nebulin repeats/super repeats, and a C-terminal SH3 domain. The N terminus of nebulin is located near the pointed end of the thin filament and contains a binding site for the actin filament capping protein tropomodulin (Tmod). The super repeat region of nebulin has been shown to interact with kelch-like family member 40 (KLHL40). The C terminus of nebulin is located within the highly specialized boundary of the sarcomere (Z-disc), and plays an important role in myofibril assembly, mechanosensing, signaling, force generation and transmission, and sarcolemmal resilience. The SH3 domain of nebulin interacts with multiple proteins, such as alpha-actinin, XIRP2 and titin []. Mutations in nebulin can cause nemaline myopathy, characterised by muscle weakness which can be severe and can lead to neonatal lethality []. This entry represents the SH3 domain of Nebulin. |
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•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry include nebulin and nebulin-related-anchoring protein (N-RAP). Nebulin is a giant filamentous protein (600-900 kD) that plays a role in numerous cellular processes including regulation of muscle contraction, Z-disc formation, and myofibril organization and assembly in skeletal muscle. It contains an N-terminal LIM domain, many nebulin repeats/super repeats, and a C-terminal SH3 domain. The N terminus of nebulin is located near the pointed end of the thin filament and contains a binding site for the actin filament capping protein tropomodulin (Tmod). The super repeat region of nebulin has been shown to interact with kelch-like family member 40 (KLHL40). The C terminus of nebulin is located within the highly specialized boundary of the sarcomere (Z-disc), and plays an important role in myofibril assembly, mechanosensing, signaling, force generation and transmission, and sarcolemmal resilience. The SH3 domain of nebulin interacts with multiple proteins, such as alpha-actinin, XIRP2 and titin []. Mutations in nebulin can cause nemaline myopathy, characterised by muscle weakness which can be severe and can lead to neonatal lethality []. Nebulin-related-anchoring protein (N-RAP) is a muscle-specific protein that may serve as a scaffold for premyofibril assembly [, ]. N-RAP contains a N-terminal LIM domain (LIM), the C-terminal actin-binding nebulin super repeats and the nebulin-related simple repeats (IB) in between the two []. The N-terminal IB region is essential for alpha-actinin organisation, while the N-RAP super repeats are essential for sarcomeric actin organisation []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Lu S |
Year: |
2003 |
Journal: |
J Cell Sci |
Title: |
New N-RAP-binding partners alpha-actinin, filamin and Krp1 detected by yeast two-hybrid screening: implications for myofibril assembly. |
Volume: |
116 |
Issue: |
Pt 11 |
Pages: |
2169-78 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
354
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
269
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1190
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1190
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
342
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
424
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
387
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1358
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
7488
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
7523
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
6909
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3044
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
7152
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1728
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1692
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
768
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
768
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1485
 |
Fragment?: |
false |
|
•
•
•
•
•
|