Type |
Details |
Score |
DO Term |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
483
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 1, Owen N Witte |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, endonuclease-mediated mutation |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
659
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
651
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
630
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
630
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
651
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
608
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
655
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
608
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 1, Rudolf Hendriks |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 4, Takehiko Sasaki |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence, Reporter |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 8, Takehiko Sasaki |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence, Reporter |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 28, Takehiko Sasaki |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence, Reporter |
|
•
•
•
•
•
|
Publication |
First Author: |
Rajaiya J |
Year: |
2006 |
Journal: |
Mol Cell Biol |
Title: |
Induction of immunoglobulin heavy-chain transcription through the transcription factor Bright requires TFII-I. |
Volume: |
26 |
Issue: |
12 |
Pages: |
4758-68 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
625
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
619
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
622
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
618
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Heritable Phenotypic Marker |
Type: |
heritable_phenotypic_marker |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Heritable Phenotypic Marker |
Type: |
heritable_phenotypic_marker |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Huber B |
Year: |
1977 |
Journal: |
J Exp Med |
Title: |
Identification of a B-cell surface structure involved in antigen-dependent triggering: absence of this structure on B cells from CBA/N mutant mice. |
Volume: |
145 |
Issue: |
1 |
Pages: |
10-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ahmed A |
Year: |
1977 |
Journal: |
J Exp Med |
Title: |
B-lymphocyte heterogeneity: development and characterization of an alloantiserum which distinguishes B-lymphocyte differentiation alloantigens. |
Volume: |
145 |
Issue: |
1 |
Pages: |
101-10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cone RE |
Year: |
1978 |
Journal: |
J Immunol |
Title: |
Molecular identification of a surface structure on B cells (Lyb-3) and its relationship to B cell triggering. |
Volume: |
120 |
Issue: |
5 |
Pages: |
1733-40 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kemp JD |
Year: |
1982 |
Journal: |
Immunol Rev |
Title: |
Lyb3: a B cell surface antigen associated with triggering secretory differentiation. |
Volume: |
69 |
|
Pages: |
127-40 |
|
•
•
•
•
•
|
Publication |
First Author: |
Smith HR |
Year: |
1986 |
Journal: |
J Immunol |
Title: |
Evidence that Lyb-5 is a differentiation antigen in normal and xid mice. |
Volume: |
136 |
Issue: |
4 |
Pages: |
1194-200 |
|
•
•
•
•
•
|
Allele |
Name: |
mannose phosphate isomerase; gene trap OST90588, Lexicon Genetics |
Allele Type: |
Gene trapped |
Attribute String: |
Null/knockout, Reporter |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion AM02, Rudolf Hendriks |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion XK24, Rudolf Hendriks |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant strain, coisogenic, transgenic |
|
•
•
•
•
•
|
Publication |
First Author: |
Marcotte DJ |
Year: |
2010 |
Journal: |
Protein Sci |
Title: |
Structures of human Bruton's tyrosine kinase in active and inactive conformations suggest a mechanism of activation for TEC family kinases. |
Volume: |
19 |
Issue: |
3 |
Pages: |
429-39 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mesci L |
Year: |
2006 |
Journal: |
Turk J Pediatr |
Title: |
A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase. |
Volume: |
48 |
Issue: |
4 |
Pages: |
362-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vihinen M |
Year: |
2000 |
Journal: |
Front Biosci |
Title: |
Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA). |
Volume: |
5 |
|
Pages: |
D917-28 |
|
•
•
•
•
•
|
Publication |
First Author: |
Brunner C |
Year: |
2005 |
Journal: |
Histol Histopathol |
Title: |
Bruton's Tyrosine Kinase is involved in innate and adaptive immunity. |
Volume: |
20 |
Issue: |
3 |
Pages: |
945-55 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
Btk (Bruton tyrosine kinase) is a member of the Tec family, which is a group of nonreceptor tyrosine kinases containing Src homology protein interaction domains (SH3, SH2) N-terminal to the catalytic tyr kinase domain. Btk also contains an N-terminal pleckstrin homology (PH) domain, which binds the products of PI3K and allows membrane recruitment and activation, and the Tec homology (TH) domain with proline-rich and zinc-binding regions [].Btk is expressed in B-cells, and a variety of myeloid cells including mast cells, platelets, neutrophils, and dendrictic cells [, ]. It interacts with a variety of partners, from cytosolic proteins to nuclear transcription factors, suggesting a diversity of functions. Stimulation of a diverse array of cell surface receptors, including antigen engagement of the B-cell receptor (BCR), leads to PH-mediated membrane translocation of Btk and subsequent phosphorylation by Src kinase and activation []. Btk plays an important role in the life cycle of B-cells including their development, differentiation, proliferation, survival, and apoptosis []. Mutations in Btk cause the primary immunodeficiency disease, X-linked agammaglobulinaemia (XLA) in humans [, ]. This entry represents the SH3 domain of Btk. |
|
•
•
•
•
•
|
Publication |
First Author: |
Paolini C |
Year: |
2007 |
Journal: |
J Physiol |
Title: |
Reorganized stores and impaired calcium handling in skeletal muscle of mice lacking calsequestrin-1. |
Volume: |
583 |
Issue: |
Pt 2 |
Pages: |
767-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tomasi M |
Year: |
2012 |
Journal: |
Am J Physiol Cell Physiol |
Title: |
Calsequestrin (CASQ1) rescues function and structure of calcium release units in skeletal muscles of CASQ1-null mice. |
Volume: |
302 |
Issue: |
3 |
Pages: |
C575-86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Matsushita T |
Year: |
2004 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice. |
Volume: |
325 |
Issue: |
4 |
Pages: |
1163-71 |
|
•
•
•
•
•
|
Allele |
Name: |
myosin, heavy polypeptide 9, non-muscle; gene trap 1, Tadashi Matsushita |
Allele Type: |
Gene trapped |
Attribute String: |
Null/knockout, Reporter |
|
•
•
•
•
•
|
Allele |
Name: |
calsequestrin 1; gene trap OST82566, Lexicon Genetics |
Allele Type: |
Gene trapped |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, gene trap |
|
•
•
•
•
•
|
Publication |
First Author: |
Guarnier FA |
Year: |
2018 |
Journal: |
Oxid Med Cell Longev |
Title: |
Aerobic Training Prevents Heatstrokes in Calsequestrin-1 Knockout Mice by Reducing Oxidative Stress. |
Volume: |
2018 |
|
Pages: |
4652480 |
|
•
•
•
•
•
|
Publication |
First Author: |
Olojo RO |
Year: |
2011 |
Journal: |
PLoS One |
Title: |
Mice null for calsequestrin 1 exhibit deficits in functional performance and sarcoplasmic reticulum calcium handling. |
Volume: |
6 |
Issue: |
12 |
Pages: |
e27036 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dainese M |
Year: |
2009 |
Journal: |
FASEB J |
Title: |
Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice. |
Volume: |
23 |
Issue: |
6 |
Pages: |
1710-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Manno C |
Year: |
2013 |
Journal: |
J Physiol |
Title: |
Dynamic measurement of the calcium buffering properties of the sarcoplasmic reticulum in mouse skeletal muscle. |
Volume: |
591 |
Issue: |
2 |
Pages: |
423-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
DeRossi C |
Year: |
2006 |
Journal: |
J Biol Chem |
Title: |
Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality. |
Volume: |
281 |
Issue: |
9 |
Pages: |
5916-27 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Myh9/Myh9 |
Background: |
involves: 129X1/SvJ * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Myh9/Myh9<+> |
Background: |
involves: 129X1/SvJ * C57BL/6 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Mpi/Mpi |
Background: |
involves: 129S5/SvEvBrd * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Casq1/Casq1 |
Background: |
involves: 129S5/SvEvBrd * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Btk/Btk Tg(IGH-Btk)1Witt/? |
Background: |
involves: 129S4/SvJae * 129X1/SvJ * BALB/c * C3H * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Btk/? Tg(IGH-Btk)1Witt/? |
Background: |
involves: BALB/c * C3H * C57BL/6 * CBA/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Btk/? Tg(IGH-Btk)1Witt/Tg(IGH-Btk)1Witt |
Background: |
involves: BALB/c * C3H * C57BL/6 * CBA/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Subbarao B |
Year: |
1979 |
Journal: |
J Immunol |
Title: |
Lyb-7, a new B cell alloantigen controlled by genes linked to the IgCH locus. |
Volume: |
122 |
Issue: |
6 |
Pages: |
2279-85 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shen FW |
Year: |
1982 |
Journal: |
Immunol Rev |
Title: |
Some compartments of B cell differentiation. |
Volume: |
69 |
|
Pages: |
69-80 |
|
•
•
•
•
•
|
Allele |
Name: |
heparan-alpha-glucosaminide N-acetyltransferase; gene trap IST11912G1, Texas A&M Institute for Genomic Medicine |
Allele Type: |
Gene trapped |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Publication |
First Author: |
Takeba Y |
Year: |
2002 |
Journal: |
J Immunol |
Title: |
Txk, a member of nonreceptor tyrosine kinase of Tec family, acts as a Th1 cell-specific transcription factor and regulates IFN-gamma gene transcription. |
Volume: |
168 |
Issue: |
5 |
Pages: |
2365-70 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
Txk is a member of the Tec protein tyrosine kinase family. It plays a role in TCR signal transduction, T cell development, and selection which is analogous to the function of Itk. Txk has been shown to interact with IFN-gamma [, ]. Unlike most of the Tec family members Txk lacks a PH domain. Instead Txk has a unique region containing a palmitoylated cysteine string which has a similar membrane tethering function as the PH domain []. This entry includes the SH2 domain of Txk.The Tec protein tyrosine kinase family includes Tec,Btk, Itk, Bmx, and Txk. They contain an NH2-terminal pleckstrin homology (PH) domain (absent in Txk), a proline-rich region, Src-homology 3 (SH3) and SH2 domains, and a COOH-terminal PTK domain. The TH domain consists of a Zn2+-binding Btk motif and a proline-rich region. The Btk motif is found in Tec kinases, Ras GAP, and IGBP and crucial to the function of the PH domain. It is not present in Txk which is not surprising since it lacks a PH domain. The type 1 splice form of the Drosophila homologue also lacks both the PH domain and the Btk motif. The proline-rich regions are highly conserved for the most part with the exception of Bmx whose residues surrounding the PXXP motif are not conserved (TH-like) and Btk29A which is entirely unique with large numbers of glycine residues (TH-extended). Tec family members all lack a C-terminal tyrosine having an autoinhibitory function in its phosphorylated state [, ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Maruyama T |
Year: |
2007 |
Journal: |
Clin Exp Immunol |
Title: |
Txk, a member of the non-receptor tyrosine kinase of the Tec family, forms a complex with poly(ADP-ribose) polymerase 1 and elongation factor 1alpha and regulates interferon-gamma gene transcription in Th1 cells. |
Volume: |
147 |
Issue: |
1 |
Pages: |
164-75 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mosca B |
Year: |
2013 |
Journal: |
Nat Commun |
Title: |
Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice. |
Volume: |
4 |
|
Pages: |
1541 |
|
•
•
•
•
•
|
Publication |
First Author: |
Manno C |
Year: |
2017 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Calsequestrin depolymerizes when calcium is depleted in the sarcoplasmic reticulum of working muscle. |
Volume: |
114 |
Issue: |
4 |
Pages: |
E638-E647 |
|
•
•
•
•
•
|
Publication |
First Author: |
Scorzeto M |
Year: |
2013 |
Journal: |
PLoS One |
Title: |
Mitochondrial Ca2+-handling in fast skeletal muscle fibers from wild type and calsequestrin-null mice. |
Volume: |
8 |
Issue: |
10 |
Pages: |
e74919 |
|
•
•
•
•
•
|
Publication |
First Author: |
Serano M |
Year: |
2022 |
Journal: |
Cells |
Title: |
Oxygen Consumption and Basal Metabolic Rate as Markers of Susceptibility to Malignant Hyperthermia and Heat Stroke. |
Volume: |
11 |
Issue: |
16 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Michelucci A |
Year: |
2017 |
Journal: |
FASEB J |
Title: |
Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia. |
Volume: |
31 |
Issue: |
8 |
Pages: |
3649-3662 |
|
•
•
•
•
•
|
Publication |
First Author: |
Martins C |
Year: |
2015 |
Journal: |
Brain |
Title: |
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. |
Volume: |
138 |
Issue: |
Pt 2 |
Pages: |
336-55 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nagel L |
Year: |
2019 |
Journal: |
Histol Histopathol |
Title: |
HGSNAT enzyme deficiency results in accumulation of heparan sulfate in podocytes and basement membranes. |
Volume: |
34 |
Issue: |
12 |
Pages: |
1377-1385 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tordo J |
Year: |
2018 |
Journal: |
Brain |
Title: |
A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency. |
Volume: |
141 |
Issue: |
7 |
Pages: |
2014-2031 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ludwig J |
Year: |
2023 |
Journal: |
Exp Eye Res |
Title: |
Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC. |
Volume: |
229 |
|
Pages: |
109433 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Blnk/Blnk<+> Btk/Btk Tg(IGH-Btk)1Witt/? |
Background: |
involves: 129S4/SvJae * 129X1/SvJ * BALB/c * C3H * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Felices M |
Year: |
2007 |
Journal: |
Adv Immunol |
Title: |
Tec kinases in T cell and mast cell signaling. |
Volume: |
93 |
|
Pages: |
145-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bradshaw JM |
Year: |
2010 |
Journal: |
Cell Signal |
Title: |
The Src, Syk, and Tec family kinases: distinct types of molecular switches. |
Volume: |
22 |
Issue: |
8 |
Pages: |
1175-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lockyer PJ |
Year: |
1997 |
Journal: |
Curr Biol |
Title: |
Distinct subcellular localisations of the putative inositol 1,3,4,5-tetrakisphosphate receptors GAP1IP4BP and GAP1m result from the GAP1IP4BP PH domain directing plasma membrane targeting. |
Volume: |
7 |
Issue: |
12 |
Pages: |
1007-10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Schurmans S |
Year: |
2015 |
Journal: |
Adv Biol Regul |
Title: |
The Ras/Rap GTPase activating protein RASA3: from gene structure to in vivo functions. |
Volume: |
57 |
|
Pages: |
153-61 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
GAP1 (GTPase-activating protein 1) family members include RASA2 (GAP1m), RASAL (RASAL1), GAP1(IP4BP or RASA3), and CAPRI (RASA4). They all display Ras GAP activity. With the exception of RASA2, they all possess an arginine finger-dependent GAP activity on Rap1 [, ]. They contain N-terminal tandem C2 domain repeats, a centrally located Ras-GAP domain, and a PH (pleckstrin homology) domain containing a Btk motif [].RASAL, like Ca2+ -promoted Ras inactivator (CAPRI, or RASAL4), is a cytosolic protein that undergoes a rapid translocation to the plasma membrane in response to receptor-mediated elevation in the concentration of intracellular free Ca2+, a translocation that activates its ability to function as a RasGAP. However, unlike RASAL4, RASAL undergoes an oscillatory translocation to the plasma membrane that occurs in synchrony with repetitive Ca2+ spikes. Its tandem C2 domains bind phospholipids upon an elevation in the intracellular free Ca2+ concentration ([Ca2+]i) []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
GAP1 (GTPase-activating protein 1) family members include RASA2 (GAP1m), RASAL (RASAL1), GAP1(IP4BP or RASA3), and CAPRI (RASA4). They all display Ras GAP activity. With the exception of RASA2, they all possess an arginine finger-dependent GAP activity on Rap1 [, ]. They contain N-terminal tandem C2 domain repeats, a centrally located Ras-GAP domain, and a PH (pleckstrin homology) domain containing a Btk motif [].This entry represents the PH domain of Ras GTPase-activating protein 2 (RASA2, also known as GAP1m). The tandem C2 domains of RASA2, like those of GAP1IP4BP, do not contain the conserved C2 motif that is known to be required for calcium-dependent phospholipid binding. RASA2 is regulated by the binding of its PH domains to phophoinositides, PIP3 (phosphatidylinositol 3,4,5-trisphosphate) []. It suppresses RAS, enhancing the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, allowing control of cellular proliferation and differentiation []. RASA2 also binds to inositol 1,3,4,5-tetrakisphosphate (IP4) []. |
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Protein Domain |
Type: |
Domain |
Description: |
GAP1 (GTPase-activating protein 1) family members include RASA2 (GAP1m), RASAL (RASAL1), GAP1(IP4BP or RASA3), and CAPRI (RASA4). They all display Ras GAP activity. With the exception of RASA2, they all possess an arginine finger-dependent GAP activity on Rap1 [, ]. They contain N-terminal tandem C2 domain repeats, a centrally located Ras-GAP domain, and a PH (pleckstrin homology) domain containing a Btk motif [].This entry represents the PH domain of Ras GTPase-activating protein 3 (RASA3, also known as GAP1 or IP4BP). The RASA3 PH domain binds to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), phosphatidylinositol 3,4,5-trisphosphate (PI(3,4,5)P3) and I(1,3,4,5)P4 []. Its C2 domains, like those of RASA2 (GAP1M), do not contain the C2 motif that is known to be required for calcium-dependent phospholipid binding []. |
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Protein Domain |
Type: |
Domain |
Description: |
GAP1 (GTPase-activating protein 1) family members include RASA2 (GAP1m), RASAL (RASAL1), GAP1(IP4BP or RASA3), and CAPRI (RASA4). They all display Ras GAP activity. With the exception of RASA2, they all possess an arginine finger-dependent GAP activity on Rap1 [, ]. They contain N-terminal tandem C2 domain repeats, a centrally located Ras-GAP domain, and a PH (pleckstrin homology) domain containing a Btk motif [].This entry represents the PH domain of Ras GTPase-activating protein 4 (RASA4, also known as CAPRI). Both CAPRI and RASAL are calcium-activated RasGAPs that inactivate Ras at the plasma membrane. Its tandem C2 domains bind phospholipids upon an elevation in the intracellular free Ca2+ concentration ([Ca2+]i). CAPRI and RASAL differ in that CAPRI is an amplitude sensor while RASAL senses calcium oscillations [, ]. This difference between them resides not in their C2 domains, but in their PH domains leading to speculation that this might reflect an association with either phosphoinositides and/or proteins []. |
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Publication |
First Author: |
Yarotskyy V |
Year: |
2013 |
Journal: |
PLoS One |
Title: |
Accelerated activation of SOCE current in myotubes from two mouse models of anesthetic- and heat-induced sudden death. |
Volume: |
8 |
Issue: |
10 |
Pages: |
e77633 |
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Publication |
First Author: |
Mosca B |
Year: |
2016 |
Journal: |
J Biol Chem |
Title: |
Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles. |
Volume: |
291 |
Issue: |
28 |
Pages: |
14555-65 |
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Publication |
First Author: |
Pan X |
Year: |
2022 |
Journal: |
J Exp Med |
Title: |
Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT. |
Volume: |
219 |
Issue: |
8 |
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Genotype |
Symbol: |
Btk/? Tg(CD19-BTK*K430R)XK24Rwhe/? |
Background: |
involves: 129P2/OlaHsd * C57BL/6 * FVB |
Zygosity: |
cx |
Has Mutant Allele: |
true |
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Publication |
First Author: |
Lockyer PJ |
Year: |
1999 |
Journal: |
Curr Biol |
Title: |
Identification of the ras GTPase-activating protein GAP1(m) as a phosphatidylinositol-3,4,5-trisphosphate-binding protein in vivo. |
Volume: |
9 |
Issue: |
5 |
Pages: |
265-8 |
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Publication |
First Author: |
Gustafsson MO |
Year: |
2017 |
Journal: |
PLoS One |
Title: |
ANKRD54 preferentially selects Bruton's Tyrosine Kinase (BTK) from a Human Src-Homology 3 (SH3) domain library. |
Volume: |
12 |
Issue: |
4 |
Pages: |
e0174909 |
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Publication |
First Author: |
Yarwood S |
Year: |
2006 |
Journal: |
Biochem Soc Trans |
Title: |
The GAP1 family of GTPase-activating proteins: spatial and temporal regulators of small GTPase signalling. |
Volume: |
34 |
Issue: |
Pt 5 |
Pages: |
846-50 |
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Publication |
First Author: |
Kupzig S |
Year: |
2009 |
Journal: |
Mol Cell Biol |
Title: |
The ability of GAP1IP4BP to function as a Rap1 GTPase-activating protein (GAP) requires its Ras GAP-related domain and an arginine finger rather than an asparagine thumb. |
Volume: |
29 |
Issue: |
14 |
Pages: |
3929-40 |
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Publication |
First Author: |
Kupzig S |
Year: |
2006 |
Journal: |
J Biol Chem |
Title: |
GAP1 family members constitute bifunctional Ras and Rap GTPase-activating proteins. |
Volume: |
281 |
Issue: |
15 |
Pages: |
9891-900 |
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Publication |
First Author: |
Jin H |
Year: |
2007 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Epigenetic silencing of a Ca(2+)-regulated Ras GTPase-activating protein RASAL defines a new mechanism of Ras activation in human cancers. |
Volume: |
104 |
Issue: |
30 |
Pages: |
12353-8 |
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Publication |
First Author: |
Dai Y |
Year: |
2011 |
Journal: |
J Biol Chem |
Title: |
Ca2+-dependent monomer and dimer formation switches CAPRI Protein between Ras GTPase-activating protein (GAP) and RapGAP activities. |
Volume: |
286 |
Issue: |
22 |
Pages: |
19905-16 |
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Publication |
First Author: |
Yamadori T |
Year: |
1999 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Bruton's tyrosine kinase activity is negatively regulated by Sab, the Btk-SH3 domain-binding protein. |
Volume: |
96 |
Issue: |
11 |
Pages: |
6341-6 |
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Publication |
First Author: |
Liao XC |
Year: |
1995 |
Journal: |
Immunity |
Title: |
Altered T cell receptor signaling and disrupted T cell development in mice lacking Itk. |
Volume: |
3 |
Issue: |
6 |
Pages: |
757-69 |
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Publication |
First Author: |
Shao Y |
Year: |
2004 |
Journal: |
J Biol Chem |
Title: |
Differential regulation of the B cell receptor-mediated signaling by the E3 ubiquitin ligase Cbl. |
Volume: |
279 |
Issue: |
42 |
Pages: |
43646-53 |
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Publication |
First Author: |
Stork B |
Year: |
2004 |
Journal: |
Immunity |
Title: |
Grb2 and the non-T cell activation linker NTAL constitute a Ca(2+)-regulating signal circuit in B lymphocytes. |
Volume: |
21 |
Issue: |
5 |
Pages: |
681-91 |
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Publication |
First Author: |
Feng M |
Year: |
2015 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Macrophages eat cancer cells using their own calreticulin as a guide: roles of TLR and Btk. |
Volume: |
112 |
Issue: |
7 |
Pages: |
2145-50 |
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Publication |
First Author: |
Guo B |
Year: |
2016 |
Journal: |
J Immunol |
Title: |
RasGRP1 Is an Essential Signaling Molecule for Development of B1a Cells with Autoantigen Receptors. |
Volume: |
196 |
Issue: |
6 |
Pages: |
2583-90 |
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Publication |
First Author: |
Yin S |
Year: |
2019 |
Journal: |
Cancer Cell |
Title: |
A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion. |
Volume: |
35 |
Issue: |
2 |
Pages: |
283-296.e5 |
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Publication |
First Author: |
Shaheen S |
Year: |
2017 |
Journal: |
Elife |
Title: |
Substrate stiffness governs the initiation of B cell activation by the concerted signaling of PKCβ and focal adhesion kinase. |
Volume: |
6 |
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