Type |
Details |
Score |
Publication |
First Author: |
Masiakowski P |
Year: |
1998 |
Journal: |
Curr Biol |
Title: |
The Wnt receptor CRD domain is also found in MuSK and related orphan receptor tyrosine kinases. |
Volume: |
8 |
Issue: |
12 |
Pages: |
R407 |
|
•
•
•
•
•
|
Allele |
Name: |
muscle, skeletal, receptor tyrosine kinase; targeted mutation 1, Veit Witzemann |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion L, Steven J Burden |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion H, Steven J Burden |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Musk/Musk Tg(Ckmm-cre)5Khn/? |
Background: |
involves: C57BL/6J * FVB |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Musk/Musk Tg(Ckmm-cre)5Khn/? |
Background: |
involves: C57BL/6J * FVB |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Musk/Musk |
Background: |
Not Specified |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Publication |
First Author: |
Mazzon C |
Year: |
2012 |
Journal: |
Blood |
Title: |
Agrin is required for survival and function of monocytic cells. |
Volume: |
119 |
Issue: |
23 |
Pages: |
5502-11 |
|
•
•
•
•
•
|
Publication |
First Author: |
Anselmo A |
Year: |
2016 |
Journal: |
Cell Death Differ |
Title: |
Identification of a novel agrin-dependent pathway in cell signaling and adhesion within the erythroid niche. |
Volume: |
23 |
Issue: |
8 |
Pages: |
1322-30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mazzon C |
Year: |
2011 |
Journal: |
Blood |
Title: |
The critical role of agrin in the hematopoietic stem cell niche. |
Volume: |
118 |
Issue: |
10 |
Pages: |
2733-42 |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE2873 |
Experiment Type: |
transcription profiling by array |
Study Type: |
Baseline |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Dok-7 is a cytoplasmic adaptor protein and a member of the Dok family. It is a substrate of MuSK (a receptor tyrosine kinase) and an activator of MuSK's kinase activity []. Mutations of the Dok-7 gene cause Myasthenic syndrome, congenital, 10 (CMS10), a form of congenital myasthenic syndrome, a group of disorders characterised by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmuneorigin [, ].The Dok family adapters are phosphorylated by different protein tyrosine kinases. Dok proteins are involved in processes such as modulation of cell differentiation and proliferation, as well as in control of the cell spreading and migration The Dok protein contains an N-terminal pleckstrin homology (PH) domain followed by a central phosphotyrosine binding (PTB) domain, which has a PH-like fold, and a proline- and tyrosine-rich C-terminal tail. The PH domain binds to acidic phospholids and localizes proteins to the plasma membrane, while the PTB domain mediates protein-protein interactions by binding to phosphotyrosine-containing motifs []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Hoshi T |
Year: |
2013 |
Journal: |
FEBS Lett |
Title: |
Mesdc2 plays a key role in cell-surface expression of Lrp4 and postsynaptic specialization in myotubes. |
Volume: |
587 |
Issue: |
23 |
Pages: |
3749-54 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hallock PT |
Year: |
2015 |
Journal: |
Mol Cell Biol |
Title: |
Sorbs1 and -2 Interact with CrkL and Are Required for Acetylcholine Receptor Cluster Formation. |
Volume: |
36 |
Issue: |
2 |
Pages: |
262-70 |
|
•
•
•
•
•
|
Publication |
First Author: |
Müller JS |
Year: |
2007 |
Journal: |
Brain |
Title: |
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. |
Volume: |
130 |
Issue: |
Pt 6 |
Pages: |
1497-506 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cossins J |
Year: |
2012 |
Journal: |
Hum Mol Genet |
Title: |
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. |
Volume: |
21 |
Issue: |
17 |
Pages: |
3765-75 |
|
•
•
•
•
•
|
Publication |
First Author: |
Turco MY |
Year: |
2012 |
Journal: |
Stem Cells |
Title: |
Cellular heterogeneity during embryonic stem cell differentiation to epiblast stem cells is revealed by the ShcD/RaLP adaptor protein. |
Volume: |
30 |
Issue: |
11 |
Pages: |
2423-36 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wills MK |
Year: |
2014 |
Journal: |
Mol Biol Cell |
Title: |
The ShcD signaling adaptor facilitates ligand-independent phosphorylation of the EGF receptor. |
Volume: |
25 |
Issue: |
6 |
Pages: |
739-52 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
Dok-7 is a cytoplasmic adaptor protein and a member of the Dok family. It is a substrate of MuSK (a receptor tyrosine kinase) and an activator of MuSK's kinase activity []. Mutations of the Dok-7 gene cause Myasthenic syndrome, congenital, 10 (CMS10), a form of congenital myasthenic syndrome, a group of disorders characterised by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin [, ].The Dok family adapters are phosphorylated by different protein tyrosine kinases. Dok proteins are involved in processes such as modulation of cell differentiation and proliferation, as well as in control of the cell spreading and migration The Dok protein contains an N-terminal pleckstrin homology (PH) domain followed by a central phosphotyrosine binding (PTB) domain, which has a PH-like fold, and a proline- and tyrosine-rich C-terminal tail. The PH domain binds to acidic phospholids and localizes proteins to the plasma membrane, while the PTB domain mediates protein-protein interactions by binding to phosphotyrosine-containing motifs [].This entry represents the PTB domain of Dok-7. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
The SH2-containing Shc adapter proteins are targets of activated tyrosine kinases and are implicated in the transmission of activation signals to the Ras/mitogen-activated protein kinase (MAPK) pathway []. Three Shc genes were originally identified in mammals that encode proteins characterised by an amino-terminal phosphotyrosine binding (PTB) domain and a carboxy-terminal Src homology 2 domain. Shc1 (ShcA) is ubiquitously expressed, whereas expression of Shc2 (ShcB) and Shc3 (ShcC) appears to be limited to neuronal cells [].A fourth Shc family protein, ShcD/Shc4, is expressed in adult brain and skeletal muscle. ShcD can associate via its PTB domain with the phosphorylated muscle-specific kinase (MuSK) receptor tyrosine kinase and undergo tyrosine phosphorylation downstream of activated MuSK. Therefore, ShcD may mediate a specific aspect of signalling downstream of the MuSK receptor []. ShcD also interacts with EGFR receptor (epidermal growth factor receptor) and facilitates its ligand-independent phosphorylation []. ShcD has been shown to be a modulator in the transition of embryonic stem cell (ESC) to epiblast stem cells (EpiSCs), the initial step for ESCs to commit to differentiation []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
Dok-7 is a cytoplasmic adaptor protein and a member of the Dok family. It is a substrate of MuSK (a receptor tyrosine kinase) and an activator of MuSK's kinase activity []. Mutations of the Dok-7 gene cause Myasthenic syndrome, congenital, 10 (CMS10), a form of congenital myasthenic syndrome, a group of disorders characterised by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin [, ].The Dok family adapters are phosphorylated by different protein tyrosine kinases. Dok proteins are involved in processes such as modulation of cell differentiation and proliferation, as well as in control of the cell spreading and migration The Dok protein contains an N-terminal pleckstrin homology (PH) domain followed by a central phosphotyrosine binding (PTB) domain, which has a PH-like fold, and a proline- and tyrosine-rich C-terminal tail. The PH domain binds to acidic phospholids and localizes proteins to the plasma membrane, while the PTB domain mediates protein-protein interactions by binding to phosphotyrosine-containing motifs [].This entry represents the PH domain of Dok-7. |
|
•
•
•
•
•
|
Publication |
First Author: |
Xing G |
Year: |
2021 |
Journal: |
Neuron |
Title: |
Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation. |
Volume: |
109 |
Issue: |
12 |
Pages: |
1963-1978.e5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wu H |
Year: |
2012 |
Journal: |
Neuron |
Title: |
Distinct roles of muscle and motoneuron LRP4 in neuromuscular junction formation. |
Volume: |
75 |
Issue: |
1 |
Pages: |
94-107 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ponomareva ON |
Year: |
2006 |
Journal: |
Mol Cell Neurosci |
Title: |
Defective neuromuscular synaptogenesis in mice expressing constitutively active ErbB2 in skeletal muscle fibers. |
Volume: |
31 |
Issue: |
2 |
Pages: |
334-45 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yumoto N |
Year: |
2012 |
Journal: |
Nature |
Title: |
Lrp4 is a retrograde signal for presynaptic differentiation at neuromuscular synapses. |
Volume: |
489 |
Issue: |
7416 |
Pages: |
438-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gomez AM |
Year: |
2011 |
Journal: |
Dev Dyn |
Title: |
The extracellular region of Lrp4 is sufficient to mediate neuromuscular synapse formation. |
Volume: |
240 |
Issue: |
12 |
Pages: |
2626-33 |
|
•
•
•
•
•
|
Publication |
First Author: |
de Kerchove D'Exaerde A |
Year: |
2002 |
Journal: |
EMBO Rep |
Title: |
Expression of mutant Ets protein at the neuromuscular synapse causes alterations in morphology and gene expression. |
Volume: |
3 |
Issue: |
11 |
Pages: |
1075-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yan M |
Year: |
2018 |
Journal: |
Neuroscience |
Title: |
Induction of Anti-agrin Antibodies Causes Myasthenia Gravis in Mice. |
Volume: |
373 |
|
Pages: |
113-121 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mashima R |
Year: |
2009 |
Journal: |
Immunol Rev |
Title: |
The roles of Dok family adapters in immunoreceptor signaling. |
Volume: |
232 |
Issue: |
1 |
Pages: |
273-85 |
|
•
•
•
•
•
|
Publication |
First Author: |
Block E |
Year: |
2015 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Implausibility of the vibrational theory of olfaction. |
Volume: |
112 |
Issue: |
21 |
Pages: |
E2766-74 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim ML |
Year: |
2008 |
Journal: |
Mol Cell Neurosci |
Title: |
O-fucosylation of muscle agrin determines its ability to cluster acetylcholine receptors. |
Volume: |
39 |
Issue: |
3 |
Pages: |
452-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
DeChiara TM |
Year: |
2000 |
Journal: |
Nat Genet |
Title: |
Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development. |
Volume: |
24 |
Issue: |
3 |
Pages: |
271-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mittaud P |
Year: |
2004 |
Journal: |
Mol Cell Biol |
Title: |
A single pulse of agrin triggers a pathway that acts to cluster acetylcholine receptors. |
Volume: |
24 |
Issue: |
18 |
Pages: |
7841-54 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hui T |
Year: |
2021 |
Journal: |
Hum Mol Genet |
Title: |
Increasing LRP4 diminishes neuromuscular deficits in a mouse model of Duchenne muscular dystrophy. |
Volume: |
30 |
Issue: |
17 |
Pages: |
1579-1590 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sigoillot SM |
Year: |
2016 |
Journal: |
FASEB J |
Title: |
Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency. |
Volume: |
30 |
Issue: |
6 |
Pages: |
2382-99 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hallock PT |
Year: |
2010 |
Journal: |
Genes Dev |
Title: |
Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L. |
Volume: |
24 |
Issue: |
21 |
Pages: |
2451-61 |
|
•
•
•
•
•
|
Publication |
First Author: |
McClintock TS |
Year: |
2014 |
Journal: |
J Neurosci |
Title: |
In vivo identification of eugenol-responsive and muscone-responsive mouse odorant receptors. |
Volume: |
34 |
Issue: |
47 |
Pages: |
15669-78 |
|
•
•
•
•
•
|
Publication |
First Author: |
Miyoshi S |
Year: |
2017 |
Journal: |
EMBO Mol Med |
Title: |
DOK7 gene therapy enhances motor activity and life span in ALS model mice. |
Volume: |
9 |
Issue: |
7 |
Pages: |
880-889 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shen C |
Year: |
2013 |
Journal: |
J Clin Invest |
Title: |
Antibodies against low-density lipoprotein receptor-related protein 4 induce myasthenia gravis. |
Volume: |
123 |
Issue: |
12 |
Pages: |
5190-202 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lin S |
Year: |
2008 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Muscle-wide secretion of a miniaturized form of neural agrin rescues focal neuromuscular innervation in agrin mutant mice. |
Volume: |
105 |
Issue: |
32 |
Pages: |
11406-11 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ulusoy C |
Year: |
2014 |
Journal: |
Clin Immunol |
Title: |
Preferential production of IgG1, IL-4 and IL-10 in MuSK-immunized mice. |
Volume: |
151 |
Issue: |
2 |
Pages: |
155-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Huang K |
Year: |
2020 |
Journal: |
Front Mol Neurosci |
Title: |
Gene Expression Profile at the Motor Endplate of the Neuromuscular Junction of Fast-Twitch Muscle. |
Volume: |
13 |
|
Pages: |
154 |
|
•
•
•
•
•
|
Publication |
First Author: |
Oury J |
Year: |
2021 |
Journal: |
Nature |
Title: |
Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia. |
Volume: |
595 |
Issue: |
7867 |
Pages: |
404-408 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cohen TJ |
Year: |
2007 |
Journal: |
J Biol Chem |
Title: |
The histone deacetylase HDAC4 connects neural activity to muscle transcriptional reprogramming. |
Volume: |
282 |
Issue: |
46 |
Pages: |
33752-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Al-Shawi R |
Year: |
2001 |
Journal: |
Dev Genes Evol |
Title: |
Expression of the Ror1 and Ror2 receptor tyrosine kinase genes during mouse development. |
Volume: |
211 |
Issue: |
4 |
Pages: |
161-71 |
|
•
•
•
•
•
|
Publication |
First Author: |
Finn AJ |
Year: |
2003 |
Journal: |
Nat Neurosci |
Title: |
Postsynaptic requirement for Abl kinases in assembly of the neuromuscular junction. |
Volume: |
6 |
Issue: |
7 |
Pages: |
717-23 |
|
•
•
•
•
•
|
Publication |
First Author: |
Madhavan R |
Year: |
2009 |
Journal: |
PLoS One |
Title: |
The function of cortactin in the clustering of acetylcholine receptors at the vertebrate neuromuscular junction. |
Volume: |
4 |
Issue: |
12 |
Pages: |
e8478 |
|
•
•
•
•
•
|
Publication |
First Author: |
Miyado M |
Year: |
2017 |
Journal: |
Reproduction |
Title: |
Expression patterns of Fgf8 and Shh in the developing external genitalia of Suncus murinus. |
Volume: |
153 |
Issue: |
2 |
Pages: |
187-195 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ohkawara B |
Year: |
2020 |
Journal: |
JCI Insight |
Title: |
Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner. |
Volume: |
5 |
Issue: |
7 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Herrmann D |
Year: |
2015 |
Journal: |
J Biol Chem |
Title: |
Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 proteins and phosphorylates the latter two. |
Volume: |
290 |
Issue: |
37 |
Pages: |
22370-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gessler L |
Year: |
2022 |
Journal: |
Cells |
Title: |
In Adult Skeletal Muscles, the Co-Receptors of Canonical Wnt Signaling, Lrp5 and Lrp6, Determine the Distribution and Size of Fiber Types, and Structure and Function of Neuromuscular Junctions. |
Volume: |
11 |
Issue: |
24 |
|
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
570
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhao K |
Year: |
2018 |
Journal: |
J Neurosci |
Title: |
Sarcoglycan Alpha Mitigates Neuromuscular Junction Decline in Aged Mice by Stabilizing LRP4. |
Volume: |
38 |
Issue: |
41 |
Pages: |
8860-8873 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lee Y |
Year: |
2008 |
Journal: |
Neuroscience |
Title: |
Rapsyn carboxyl terminal domains mediate muscle specific kinase-induced phosphorylation of the muscle acetylcholine receptor. |
Volume: |
153 |
Issue: |
4 |
Pages: |
997-1007 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
504
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
219
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
114
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Ravichandran KS |
Year: |
2001 |
Journal: |
Oncogene |
Title: |
Signaling via Shc family adapter proteins. |
Volume: |
20 |
Issue: |
44 |
Pages: |
6322-30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pelicci G |
Year: |
1996 |
Journal: |
Oncogene |
Title: |
A family of Shc related proteins with conserved PTB, CH1 and SH2 regions. |
Volume: |
13 |
Issue: |
3 |
Pages: |
633-41 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
626
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
340
 |
Fragment?: |
false |
|
•
•
•
•
•
|