Type |
Details |
Score |
GO Term |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim HK |
Year: |
2011 |
Journal: |
Arch Biochem Biophys |
Title: |
Effect of CCS on the accumulation of FALS SOD1 mutant-containing aggregates and on mitochondrial translocation of SOD1 mutants: implication of a free radical hypothesis. |
Volume: |
509 |
Issue: |
2 |
Pages: |
177-85 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sohrabi Y |
Year: |
2018 |
Journal: |
Front Immunol |
Title: |
Genetic Regulation of Guanylate-Binding Proteins 2b and 5 during Leishmaniasis in Mice. |
Volume: |
9 |
|
Pages: |
130 |
|
•
•
•
•
•
|
GO Term |
|
•
•
•
•
•
|
Publication |
First Author: |
Camacho-Pereira J |
Year: |
2016 |
Journal: |
Cell Metab |
Title: |
CD38 Dictates Age-Related NAD Decline and Mitochondrial Dysfunction through an SIRT3-Dependent Mechanism. |
Volume: |
23 |
Issue: |
6 |
Pages: |
1127-1139 |
|
•
•
•
•
•
|
Publication |
First Author: |
Meyer-Ficca ML |
Year: |
2022 |
Journal: |
Front Endocrinol (Lausanne) |
Title: |
Low NAD+ Levels Are Associated With a Decline of Spermatogenesis in Transgenic ANDY and Aging Mice. |
Volume: |
13 |
|
Pages: |
896356 |
|
•
•
•
•
•
|
Publication |
First Author: |
Agorrody G |
Year: |
2022 |
Journal: |
J Mol Cell Cardiol |
Title: |
Benefits in cardiac function by CD38 suppression: Improvement in NAD+ levels, exercise capacity, heart rate variability and protection against catecholamine-induced ventricular arrhythmias. |
Volume: |
166 |
|
Pages: |
11-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Langley MR |
Year: |
2021 |
Journal: |
J Neurosci |
Title: |
Critical Role of Astrocyte NAD(+) Glycohydrolase in Myelin Injury and Regeneration. |
Volume: |
41 |
Issue: |
41 |
Pages: |
8644-8667 |
|
•
•
•
•
•
|
Allele |
Name: |
gene trap ROSA 26, Philippe Soriano; targeted mutation 1, Yasuhiro Yamada |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
collagen, type I, alpha 1; targeted mutation 2, Yasuhiro Yamada |
Allele Type: |
Targeted |
Attribute String: |
Inducible, Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
collagen, type I, alpha 1; targeted mutation 1, Yasuhiro Yamada |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence, Inducible, Inserted expressed sequence, RMCE-ready |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
Baseline |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Tarragó MG |
Year: |
2018 |
Journal: |
Cell Metab |
Title: |
A Potent and Specific CD38 Inhibitor Ameliorates Age-Related Metabolic Dysfunction by Reversing Tissue NAD+ Decline. |
Volume: |
27 |
Issue: |
5 |
Pages: |
1081-1095.e10 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, mutant stock |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE46906 |
Experiment Type: |
transcription profiling by array |
Study Type: |
Baseline |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Publication |
First Author: |
Komura S |
Year: |
2019 |
Journal: |
Nat Commun |
Title: |
Cell-type dependent enhancer binding of the EWS/ATF1 fusion gene in clear cell sarcomas. |
Volume: |
10 |
Issue: |
1 |
Pages: |
3999 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
160
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
155
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
66
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
110
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
138
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
153
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
57
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Furukawa Y |
Year: |
2018 |
Journal: |
PLoS One |
Title: |
Identification of a novel zinc-binding protein, C1orf123, as an interactor with a heavy metal-associated domain. |
Volume: |
13 |
Issue: |
9 |
Pages: |
e0204355 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This family consists of a number of eukaryotic proteins including CXXC motif containing zinc binding protein (previously known as UPF0587 protein C1orf123). The crystal structure reveals that the protein binds a Zn2+ ion in a tetrahedral coordination with four Cys residues from two CxxC motifs. CXXC motif containing zinc binding protein was initially identified as an interaction partner for the heavy metal-associated (HMA) domain of CCS (copper chaperone for superoxide dismutase). However, it was shown that only misfolded mutant forms, lacking part of the zinc-binding sites, interact with CCS []. |
|
•
•
•
•
•
|
Publication |
First Author: |
de Zélicourt A |
Year: |
2022 |
Journal: |
EMBO Mol Med |
Title: |
CD38-NADase is a new major contributor to Duchenne muscular dystrophic phenotype. |
Volume: |
14 |
Issue: |
5 |
Pages: |
e12860 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shi B |
Year: |
2021 |
Journal: |
iScience |
Title: |
Targeting CD38-dependent NAD+ metabolism to mitigate multiple organ fibrosis. |
Volume: |
24 |
Issue: |
1 |
Pages: |
101902 |
|
•
•
•
•
•
|
Publication |
First Author: |
de Almeida L |
Year: |
2022 |
Journal: |
Sci Adv |
Title: |
Identification of immunomodulatory drugs that inhibit multiple inflammasomes and impair SARS-CoV-2 infection. |
Volume: |
8 |
Issue: |
37 |
Pages: |
eabo5400 |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
Baseline |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Yamada K |
Year: |
2013 |
Journal: |
J Clin Invest |
Title: |
EWS/ATF1 expression induces sarcomas from neural crest-derived cells in mice. |
Volume: |
123 |
Issue: |
2 |
Pages: |
600-10 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, mutant stock |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
DNA-dependent protein kinase catalytic subunit (DNA-PKcs) is involved in DNA nonhomologous end joining (NHEJ) which is recruited by Ku70/80 heterodimer to DNA ends and required for double-strand break (DSB) repair. It folds into three well-defined large structural units, consisting of a N-terminal region, the Circular Cradle (consisting of five supersecondary α-helical structures CC1 to CC5), and the C-terminal Head (comprising FAT, FRB, kinase, and FATC). The N-terminal and CCs regions resemble HEAT repeats, and thus, they are also referred to as N-HEAT and M-HEAT ('middle'), respectively. The CCs form a curved elliptical ring that serves as a scaffold to maintain the integrity of the whole complex. This entry represents CC1 and CC2, which contain the Highly conserved region I (HCR-I) [, , , ]. |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Col1a1/Col1a1<+> Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> |
Background: |
involves: 129S4/SvJae * C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
van Weerd JH |
Year: |
2016 |
Journal: |
Development |
Title: |
The formation and function of the cardiac conduction system. |
Volume: |
143 |
Issue: |
2 |
Pages: |
197-210 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This domain represents a region of the Circular Cradle segment (CC) from DNA-PKcs that covers the complete CC3 and part of CC4. This domain contains the Ku-binding site A and a the highly conserved region (HCR) II [].DNA-dependent protein kinase catalytic subunit (DNA-PKcs) is involved in DNA nonhomologous end joining (NHEJ), which is recruited by Ku70/80 heterodimer to DNA ends and required for double-strand break (DSB) repair. DNA-PKcs phosphorylates a number of protein substrates, including the heat shock protein 90 (HSP90), the transcription factors p53, specificity protein 1 (Sp1) and MYC23, and a majority of NHEJ factors. It folds into three well-defined large structural units, consisting of a N-terminal region (arranged in four supersecondary α-helical structures, N1 to N4), the Circular Cradle (consisting of five supersecondary α-helical structures CC1 to CC5), and the C-terminal Head (comprising FAT, FRB, kinase, and FATC). The N-terminal and CCs regions resemble HEAT repeats, and thus, they are also referred to as N-HEAT and M-HEAT ('middle'), respectively. The N-terminal region likely mediates DNA binding and, together with the CCs, forms a ring through which Ku70/80 may present DNA for repair. The CCs form a curved elliptical ring that serves as a scaffold to maintain the integrity of the whole complex. It has been suggested that the binding of Ku or DNA activates the allosteric mechanism required for communication between the N terminus and the CC with the kinase in the Head [, , , ]. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This entry represents the C-terminal region of the Circular Cradle segment (CC) of the DNA-dependent protein kinase catalytic subunit (DNA-PKcs), containing most of the supersecondary structure CC4 and the complete CC5. Structural studies revealed that this domain contains the Ku-binding site B and one of the caspase-3 cleavage sites [].DNA-dependent protein kinase catalytic subunit (DNA-PKcs) is involved in DNA nonhomologous end joining (NHEJ), which is recruited by Ku70/80 heterodimer to DNA ends and required for double-strand break (DSB) repair. DNA-PKcs phosphorylates a number of protein substrates, including the heat shock protein 90 (HSP90), the transcription factors p53, specificity protein 1 (Sp1) and MYC23, and a majority of NHEJ factors. It folds into three well-defined large structural units, consisting of a N-terminal region (arranged in four supersecondary α-helical structures, N1 to N4), the Circular Cradle (consisting of five supersecondary α-helical structures CC1 to CC5), and the C-terminal Head (comprising FAT, FRB, kinase, and FATC). The N-terminal and CCs regions resemble HEAT repeats, and thus, they are also referred to as N-HEAT and M-HEAT ('middle'), respectively. The N-terminal region likely mediates DNA binding and, together with the CCs, forms a ring through which Ku70/80 may present DNA for repair. The CCs form a curved elliptical ring that serves as a scaffold to maintain the integrity of the whole complex. It has been suggested that the binding of Ku or DNA activates the allosteric mechanism required for communication between the N terminus and the CC with the kinase in the Head [, , , ]. |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Col1a1/Col1a1<+> Gt(ROSA)26Sor/Gt(ROSA)26Sor Tg(Mpz-cre)94Imeg/? |
Background: |
involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Arnolds DE |
Year: |
2011 |
Journal: |
Genesis |
Title: |
Inducible recombination in the cardiac conduction system of minK: CreERT² BAC transgenic mice. |
Volume: |
49 |
Issue: |
11 |
Pages: |
878-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ismat FA |
Year: |
2005 |
Journal: |
Circ Res |
Title: |
Homeobox protein Hop functions in the adult cardiac conduction system. |
Volume: |
96 |
Issue: |
8 |
Pages: |
898-903 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yin X |
Year: |
2017 |
Journal: |
Cell Res |
Title: |
Cryo-EM structure of human DNA-PK holoenzyme. |
Volume: |
27 |
Issue: |
11 |
Pages: |
1341-1350 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sibanda BL |
Year: |
2017 |
Journal: |
Science |
Title: |
DNA-PKcs structure suggests an allosteric mechanism modulating DNA double-strand break repair. |
Volume: |
355 |
Issue: |
6324 |
Pages: |
520-524 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sharif H |
Year: |
2017 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Cryo-EM structure of the DNA-PK holoenzyme. |
Volume: |
114 |
Issue: |
28 |
Pages: |
7367-7372 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chaplin AK |
Year: |
2021 |
Journal: |
Nat Struct Mol Biol |
Title: |
Dimers of DNA-PK create a stage for DNA double-strand break repair. |
Volume: |
28 |
Issue: |
1 |
Pages: |
13-19 |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Col1a1/Col1a1<+> Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> H2az2/H2az2<+> Tg(CAG-cat,-lacZ)11Miya/? |
Background: |
involves: 129S4/SvJae * C57BL/6 * CBA/J * DBA/2 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Grüneboom A |
Year: |
2019 |
Journal: |
Nat Metab |
Title: |
A network of trans-cortical capillaries as mainstay for blood circulation in long bones. |
Volume: |
1 |
Issue: |
2 |
Pages: |
236-250 |
|
•
•
•
•
•
|
Publication |
First Author: |
Straessler KM |
Year: |
2013 |
Journal: |
Cancer Cell |
Title: |
Modeling clear cell sarcomagenesis in the mouse: cell of origin differentiation state impacts tumor characteristics. |
Volume: |
23 |
Issue: |
2 |
Pages: |
215-27 |
|
•
•
•
•
•
|
Publication |
First Author: |
Poelmann RE |
Year: |
2004 |
Journal: |
Anat Embryol (Berl) |
Title: |
The neural crest is contiguous with the cardiac conduction system in the mouse embryo: a role in induction? |
Volume: |
208 |
Issue: |
5 |
Pages: |
389-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Guha A |
Year: |
2017 |
Journal: |
Cell Rep |
Title: |
Uroplakin 3a+ Cells Are a Distinctive Population of Epithelial Progenitors that Contribute to Airway Maintenance and Post-injury Repair. |
Volume: |
19 |
Issue: |
2 |
Pages: |
246-254 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pauly JR |
Year: |
1988 |
Journal: |
Physiol Behav |
Title: |
Adrenocortical hormone regulation of nicotine sensitivity in mice. |
Volume: |
44 |
Issue: |
1 |
Pages: |
109-16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tschaharganeh DF |
Year: |
2014 |
Journal: |
Cell |
Title: |
p53-dependent Nestin regulation links tumor suppression to cellular plasticity in liver cancer. |
Volume: |
158 |
Issue: |
3 |
Pages: |
579-92 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gutiérrez-Caballero C |
Year: |
2011 |
Journal: |
Cell Cycle |
Title: |
Identification and molecular characterization of the mammalian α-kleisin RAD21L. |
Volume: |
10 |
Issue: |
9 |
Pages: |
1477-87 |
|
•
•
•
•
•
|
Publication |
First Author: |
Martinez-Espinosa PL |
Year: |
2014 |
Journal: |
J Gen Physiol |
Title: |
Knockout of the BK β2 subunit abolishes inactivation of BK currents in mouse adrenal chromaffin cells and results in slow-wave burst activity. |
Volume: |
144 |
Issue: |
4 |
Pages: |
275-95 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wu M |
Year: |
2014 |
Journal: |
Genesis |
Title: |
Inducible gene deletion in the entire cardiac conduction system using Hcn4-CreERT2 BAC transgenic mice. |
Volume: |
52 |
Issue: |
2 |
Pages: |
134-40 |
|
•
•
•
•
•
|
Publication |
First Author: |
Arnolds DE |
Year: |
2012 |
Journal: |
J Clin Invest |
Title: |
TBX5 drives Scn5a expression to regulate cardiac conduction system function. |
Volume: |
122 |
Issue: |
7 |
Pages: |
2509-18 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hartman ME |
Year: |
2014 |
Journal: |
FASEB J |
Title: |
Myocardial deletion of transcription factor CHF1/Hey2 results in altered myocyte action potential and mild conduction system expansion but does not alter conduction system function or promote spontaneous arrhythmias. |
Volume: |
28 |
Issue: |
7 |
Pages: |
3007-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Watanabe M |
Year: |
2001 |
Journal: |
Neurobiol Dis |
Title: |
Histological evidence of protein aggregation in mutant SOD1 transgenic mice and in amyotrophic lateral sclerosis neural tissues. |
Volume: |
8 |
Issue: |
6 |
Pages: |
933-41 |
|
•
•
•
•
•
|
Publication |
First Author: |
Biosse Duplan M |
Year: |
2021 |
Journal: |
Dis Model Mech |
Title: |
An Fgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton. |
Volume: |
14 |
Issue: |
4 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Yamada H |
Year: |
2024 |
Journal: |
Sci Rep |
Title: |
The long-term effects of heated tobacco product exposure on the central nervous system in a mouse model of prodromal Alzheimer's disease. |
Volume: |
14 |
Issue: |
1 |
Pages: |
227 |
|
•
•
•
•
•
|
Publication |
First Author: |
van Wezel T |
Year: |
1996 |
Journal: |
Nat Genet |
Title: |
Gene interaction and single gene effects in colon tumour susceptibility in mice. |
Volume: |
14 |
Issue: |
4 |
Pages: |
468-70 |
|
•
•
•
•
•
|
Publication |
First Author: |
Boulter L |
Year: |
2015 |
Journal: |
J Clin Invest |
Title: |
WNT signaling drives cholangiocarcinoma growth and can be pharmacologically inhibited. |
Volume: |
125 |
Issue: |
3 |
Pages: |
1269-85 |
|
•
•
•
•
•
|
Publication |
First Author: |
Viswanathan S |
Year: |
2007 |
Journal: |
J Mol Cell Cardiol |
Title: |
Characterization of sinoatrial node in four conduction system marker mice. |
Volume: |
42 |
Issue: |
5 |
Pages: |
946-53 |
|
•
•
•
•
•
|
Publication |
First Author: |
Xu X |
Year: |
2006 |
Journal: |
J Clin Invest |
Title: |
Induction of intrahepatic cholangiocellular carcinoma by liver-specific disruption of Smad4 and Pten in mice. |
Volume: |
116 |
Issue: |
7 |
Pages: |
1843-52 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mohan RA |
Year: |
2018 |
Journal: |
Development |
Title: |
Embryonic Tbx3+ cardiomyocytes form the mature cardiac conduction system by progressive fate restriction. |
Volume: |
145 |
Issue: |
17 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Flores DJ |
Year: |
2018 |
Journal: |
Hum Mol Genet |
Title: |
Conditional ablation and conditional rescue models for Casq2 elucidate the role of development and of cell-type specific expression of Casq2 in the CPVT2 phenotype. |
Volume: |
27 |
Issue: |
9 |
Pages: |
1533-1544 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liang X |
Year: |
2013 |
Journal: |
Circ Res |
Title: |
HCN4 dynamically marks the first heart field and conduction system precursors. |
Volume: |
113 |
Issue: |
4 |
Pages: |
399-407 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bhattacharyya S |
Year: |
2017 |
Journal: |
PLoS One |
Title: |
Phenotypically silent Cre recombination within the postnatal ventricular conduction system. |
Volume: |
12 |
Issue: |
3 |
Pages: |
e0174517 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pallante BA |
Year: |
2010 |
Journal: |
Circ Arrhythm Electrophysiol |
Title: |
Contactin-2 expression in the cardiac Purkinje fiber network. |
Volume: |
3 |
Issue: |
2 |
Pages: |
186-94 |
|
•
•
•
•
•
|
Publication |
First Author: |
Williams JR |
Year: |
2016 |
Journal: |
Neurobiol Dis |
Title: |
Copper delivery to the CNS by CuATSM effectively treats motor neuron disease in SOD(G93A) mice co-expressing the Copper-Chaperone-for-SOD. |
Volume: |
89 |
|
Pages: |
1-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Furukawa Y |
Year: |
2008 |
Journal: |
J Biol Chem |
Title: |
Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis. |
Volume: |
283 |
Issue: |
35 |
Pages: |
24167-76 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bao L |
Year: |
2011 |
Journal: |
Circ Arrhythm Electrophysiol |
Title: |
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