Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:4886440 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3266523 |
Pattern: |
Widespread |
Stage: |
TS23 |
Assay Id: |
MGI:4945298 |
Age: |
embryonic day 15.5 |
Image: |
g00792 E15.5 |
|
Specimen Label: |
g00792 E15.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1929028 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6692456 |
Age: |
postnatal adult |
Image: |
UC Davis_1879140 |
|
Specimen Label: |
UC Davis_1879140 |
Detected: |
true |
Specimen Num: |
12 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886440 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757723 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4945298 |
Age: |
embryonic day 15.5 |
Image: |
g00792 E15.5 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00792 E15.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4886440 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757728 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:4945298 |
Age: |
postnatal day 7 |
Image: |
g00792 P7 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00792 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang C |
Year: |
2000 |
Journal: |
GenBank Submission |
Title: |
Mus musculus ancient conserved domain protein 2 (Acdp2) mRNA, complete cds |
|
|
Pages: |
AF216961 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang C |
Year: |
2000 |
Journal: |
GenBank Submission |
Title: |
Mus musculus ancient conserved domain protein 4 (Acdp4) mRNA, complete cds |
|
|
Pages: |
AF216963 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hattori M |
Year: |
2007 |
Journal: |
Nature |
Title: |
Crystal structure of the MgtE Mg2+ transporter. |
Volume: |
448 |
Issue: |
7157 |
Pages: |
1072-5 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
348
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
345
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
290
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
320
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
218
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
82
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Stanĕk D |
Year: |
2003 |
Journal: |
J Cell Biol |
Title: |
Targeting of U4/U6 small nuclear RNP assembly factor SART3/p110 to Cajal bodies. |
Volume: |
160 |
Issue: |
4 |
Pages: |
505-16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rahimi A |
Year: |
2015 |
Journal: |
Neuroscience |
Title: |
Interaction between the protective effects of cannabidiol and palmitoylethanolamide in experimental model of multiple sclerosis in C57BL/6 mice. |
Volume: |
290 |
|
Pages: |
279-87 |
|
•
•
•
•
•
|
Publication |
First Author: |
Molina-Holgado F |
Year: |
2003 |
Journal: |
J Neurosci |
Title: |
Endogenous interleukin-1 receptor antagonist mediates anti-inflammatory and neuroprotective actions of cannabinoids in neurons and glia. |
Volume: |
23 |
Issue: |
16 |
Pages: |
6470-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tucker KE |
Year: |
2001 |
Journal: |
J Cell Biol |
Title: |
Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product. |
Volume: |
154 |
Issue: |
2 |
Pages: |
293-307 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tapia O |
Year: |
2017 |
Journal: |
Neurobiol Dis |
Title: |
Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus. |
Volume: |
108 |
|
Pages: |
83-99 |
|
•
•
•
•
•
|
Publication |
First Author: |
Prudova A |
Year: |
2006 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
S-adenosylmethionine stabilizes cystathionine beta-synthase and modulates redox capacity. |
Volume: |
103 |
Issue: |
17 |
Pages: |
6489-94 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hui S |
Year: |
2011 |
Journal: |
Circ Res |
Title: |
Peptide-mediated disruption of calmodulin-cyclin E interactions inhibits proliferation of vascular smooth muscle cells and neointima formation. |
Volume: |
108 |
Issue: |
9 |
Pages: |
1053-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Piruat JI |
Year: |
2004 |
Journal: |
Mol Cell Biol |
Title: |
The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia. |
Volume: |
24 |
Issue: |
24 |
Pages: |
10933-40 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vacík T |
Year: |
2005 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes. |
Volume: |
102 |
Issue: |
12 |
Pages: |
4500-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lecarpentier Y |
Year: |
2008 |
Journal: |
Biophys J |
Title: |
Cardiac Myosin-binding protein C modulates the tuning of the molecular motor in the heart. |
Volume: |
95 |
Issue: |
2 |
Pages: |
720-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Messina V |
Year: |
2012 |
Journal: |
PLoS One |
Title: |
The RNA binding protein SAM68 transiently localizes in the chromatoid body of male germ cells and influences expression of select microRNAs. |
Volume: |
7 |
Issue: |
6 |
Pages: |
e39729 |
|
•
•
•
•
•
|
Publication |
First Author: |
Katsouda A |
Year: |
2023 |
Journal: |
Front Pharmacol |
Title: |
CTH/MPST double ablation results in enhanced vasorelaxation and reduced blood pressure via upregulation of the eNOS/sGC pathway. |
Volume: |
14 |
|
Pages: |
1090654 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jiang Z |
Year: |
2015 |
Journal: |
PLoS One |
Title: |
Role of hydrogen sulfide in early blood-brain barrier disruption following transient focal cerebral ischemia. |
Volume: |
10 |
Issue: |
2 |
Pages: |
e0117982 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gupta S |
Year: |
2008 |
Journal: |
Hum Mutat |
Title: |
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. |
Volume: |
29 |
Issue: |
8 |
Pages: |
1048-54 |
|
•
•
•
•
•
|
Publication |
First Author: |
Krejčí J |
Year: |
2017 |
Journal: |
Stem Cells Int |
Title: |
Neural Differentiation in HDAC1-Depleted Cells Is Accompanied by Coilin Downregulation and the Accumulation of Cajal Bodies in Nucleoli. |
Volume: |
2017 |
|
Pages: |
1021240 |
|
•
•
•
•
•
|
Publication |
First Author: |
Peña-Münzenmayer G |
Year: |
2005 |
Journal: |
J Cell Sci |
Title: |
Basolateral localization of native ClC-2 chloride channels in absorptive intestinal epithelial cells and basolateral sorting encoded by a CBS-2 domain di-leucine motif. |
Volume: |
118 |
Issue: |
Pt 18 |
Pages: |
4243-52 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chan EK |
Year: |
1994 |
Journal: |
Nucleic Acids Res |
Title: |
Structure, expression and chromosomal localization of human p80-coilin gene. |
Volume: |
22 |
Issue: |
21 |
Pages: |
4462-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li L |
Year: |
2006 |
Journal: |
Mol Biol Cell |
Title: |
Dynamic nature of cleavage bodies and their spatial relationship to DDX1 bodies, Cajal bodies, and gems. |
Volume: |
17 |
Issue: |
3 |
Pages: |
1126-40 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kundu S |
Year: |
2014 |
Journal: |
Biochim Biophys Acta |
Title: |
Hydrogen sulfide mitigates hyperglycemic remodeling via liver kinase B1-adenosine monophosphate-activated protein kinase signaling. |
Volume: |
1843 |
Issue: |
12 |
Pages: |
2816-26 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mo S |
Year: |
2018 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Cystathionine gamma lyase-H2S contributes to osteoclastogenesis during bone remodeling induced by mechanical loading. |
Volume: |
501 |
Issue: |
2 |
Pages: |
471-477 |
|
•
•
•
•
•
|
Publication |
First Author: |
Majtan T |
Year: |
2019 |
Journal: |
FASEB J |
Title: |
Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy. |
Volume: |
33 |
Issue: |
11 |
Pages: |
12477-12486 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rawat P |
Year: |
2017 |
Journal: |
Mol Cell Biol |
Title: |
Chromatin Domain Organization of the TCRb Locus and Its Perturbation by Ectopic CTCF Binding. |
Volume: |
37 |
Issue: |
9 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Li HY |
Year: |
2016 |
Journal: |
J Biol Chem |
Title: |
An Intrinsically Disordered Motif Mediates Diverse Actions of Monomeric C-reactive Protein. |
Volume: |
291 |
Issue: |
16 |
Pages: |
8795-804 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang W |
Year: |
2018 |
Journal: |
Am J Physiol Renal Physiol |
Title: |
Endogenous H2S sensitizes PAR4-induced bladder pain. |
Volume: |
314 |
Issue: |
6 |
Pages: |
F1077-F1086 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kundu S |
Year: |
2015 |
Journal: |
Nitric Oxide |
Title: |
MMP-9- and NMDA receptor-mediated mechanism of diabetic renovascular remodeling and kidney dysfunction: hydrogen sulfide is a key modulator. |
Volume: |
46 |
|
Pages: |
172-85 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ge X |
Year: |
2023 |
Journal: |
Nat Commun |
Title: |
Outward-oriented sites within clustered CTCF boundaries are key for intra-TAD chromatin interactions and gene regulation. |
Volume: |
14 |
Issue: |
1 |
Pages: |
8101 |
|
•
•
•
•
•
|
Publication |
First Author: |
Meikar O |
Year: |
2014 |
Journal: |
RNA |
Title: |
An atlas of chromatoid body components. |
Volume: |
20 |
Issue: |
4 |
Pages: |
483-95 |
|
•
•
•
•
•
|
Publication |
First Author: |
Balbir A |
Year: |
2007 |
Journal: |
Am J Physiol Lung Cell Mol Physiol |
Title: |
A search for genes that may confer divergent morphology and function in the carotid body between two strains of mice. |
Volume: |
292 |
Issue: |
3 |
Pages: |
L704-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pereira PL |
Year: |
2009 |
Journal: |
Hum Mol Genet |
Title: |
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. |
Volume: |
18 |
Issue: |
24 |
Pages: |
4756-69 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
96
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This presumed domain (used to be named as DUF39) is about is about 360 residues long. The function of this domain is not clear. It is found at N terminus in some proteins that have two C-terminal cystathionine beta-synthase (CBS) domains, such as MJ0100 from Methanocaldococcus jannaschii. This domain can also be found in proteins that contain two C-terminal inserted Fe4S domains []. In Methanocaldococcus jannaschii, MJ0100 (also known as MA1821) is involved in Hcy (homocysteine) biosynthesis. Its CBS domains bind S-adenosyl-l-methionine (SAM) and 5'-methylthioadenosine (MTA), which induce a conformational change consistent with regulatory function. Another protein in the homocysteine biosynthesis pathway, MA1822, is involved in the reduction of the disulfide formed in MA1821 during the conversion of Asa (aspartate semialdehyde) to Hcy [, ].The DUF39-CBS and DUF39-ferredoxin architectures repeatedly occur together in the genomes of methanogenic Archaea, suggesting they may be of diverged function. This is consistent with a phylogenetic reconstruction of the DUF39 family, which clearly distinguishes the CBS-associated and ferredoxin-associated DUF39s []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Funato Y |
Year: |
2017 |
Journal: |
J Hypertens |
Title: |
Renal function of cyclin M2 Mg2+ transporter maintains blood pressure. |
Volume: |
35 |
Issue: |
3 |
Pages: |
585-592 |
|
•
•
•
•
•
|
Publication |
First Author: |
Funato Y |
Year: |
2021 |
Journal: |
Nat Commun |
Title: |
Importance of the renal ion channel TRPM6 in the circadian secretion of renin to raise blood pressure. |
Volume: |
12 |
Issue: |
1 |
Pages: |
3683 |
|
•
•
•
•
•
|
Publication |
First Author: |
Otsubo T |
Year: |
2011 |
Journal: |
Front Cell Neurosci |
Title: |
Differential Expression of Large-Conductance Ca-Activated K Channels in the Carotid Body between DBA/2J and A/J Strains of Mice. |
Volume: |
5 |
|
Pages: |
19 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ilenwabor BP |
Year: |
2022 |
Journal: |
Am J Physiol Renal Physiol |
Title: |
SLC41A1 knockout mice display normal magnesium homeostasis. |
Volume: |
323 |
Issue: |
5 |
Pages: |
F553-F563 |
|
•
•
•
•
•
|
Publication |
First Author: |
Peleli M |
Year: |
2020 |
Journal: |
Biochem Pharmacol |
Title: |
Cardiovascular phenotype of mice lacking 3-mercaptopyruvate sulfurtransferase. |
Volume: |
176 |
|
Pages: |
113833 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu J |
Year: |
2021 |
Journal: |
Front Pharmacol |
Title: |
Chronoeffects of the Herbal Medicines Puerariae radix and Coptidis rhizoma in Mice: A Potential Role of REV-ERBα. |
Volume: |
12 |
|
Pages: |
707844 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chrysis D |
Year: |
2001 |
Journal: |
J Neurosci |
Title: |
Insulin-like growth factor-I overexpression attenuates cerebellar apoptosis by altering the expression of Bcl family proteins in a developmentally specific manner. |
Volume: |
21 |
Issue: |
5 |
Pages: |
1481-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dahlhoff C |
Year: |
2013 |
Journal: |
PLoS One |
Title: |
Hepatic methionine homeostasis is conserved in C57BL/6N mice on high-fat diet despite major changes in hepatic one-carbon metabolism. |
Volume: |
8 |
Issue: |
3 |
Pages: |
e57387 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shentu Y |
Year: |
2024 |
Journal: |
Exp Neurol |
Title: |
Hydrogen sulfide ameliorates lipopolysaccharide-induced anxiety-like behavior by inhibiting checkpoint kinase 1 activation in the hippocampus of mice. |
Volume: |
371 |
|
Pages: |
114586 |
|
•
•
•
•
•
|
Publication |
First Author: |
Threadgill DS |
Year: |
1989 |
Journal: |
Cytogenet Cell Genet |
Title: |
Comparative mapping of HSA 21/MMU 16 homologs in the bovine. |
Volume: |
51 |
|
Pages: |
1090-1091 (Abstr.) |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
187
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
84
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
Prokaryotic cells have a defence mechanism against a sudden heat-shock stress. Commonly, they induce a set of proteins that protect cellular proteins from being denatured by heat. Among such proteins are the GroE and DnaK chaperones whose transcription is regulated by a heat-shock repressor protein HrcA. HrcA is a winged helix-turn-helix repressor that negatively regulates the transcription of dnaK and groE operons by binding the upstream CIRCE (controlling inverted repeat of chaperone expression) element. In Bacillus subtilis this element is a perfect 9 base pair inverted repeat separated by a 9 base pair spacer. The crystal structure of a heat-inducible transcriptional repressor, HrcA, from Thermotoga maritima has been reported at 2.2A resolution. HrcA is composed of three domains: an N-terminal winged helix-turn-helix domain (WHTH), a GAF-like domain, and an inserted dimerizing domain (IDD). The IDD shows a unique structural fold with an anti-parallel β-sheet composed of three β-strands sided by four α-helices. HrcA crystallises as a dimer, which is formed through hydrophobic contact between the IDDs and a limited contact that involves conserved residues between the GAF-like domains []. The structural studies suggest that the inactive form of HrcA is the dimer and this is converted to its DNA-binding form by interaction with GroEL, which binds to a conserved C-terminal sequence region [, ]. Comparison of the HrcA-CIRCE complexes from B. subtilis and Bacillus thermoglucosidasius (Geobacillus thermoglucosidasius), which grow at vastly different ranges of temperature shows that the thermostability profiles were consistent with the difference in the growth temperatures suggesting that HrcA can function as a thermosensor to detect temperature changes in cells []. Any increase in temperature causes the dissociation of the HrcA from the CIRCE complex with the concomitant activation of transcription of the groE and dnaK operons. This domain represents the winged helix-turn-helix DNA-binding domain which is located close to the N terminus of HrcA. This domain is also found at the N terminus of a set of uncharacterised proteins that have two C-terminal CBS domains. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
AMPK, a serine/threonine protein kinase (STK), catalyzes the transfer of the gamma-phosphoryl group from ATP to S/T residues on protein substrates. It acts as a sensor for the energy status of the cell and is activated by cellular stresses that lead to ATP depletion such as hypoxia, heat shock, and glucose deprivation, among others. AMPK is a heterotrimer of three subunits: alpha, beta, and gamma []. The alpha subunit is the catalytic subunit and it contains an N-terminal kinase domain, a putative autoinhibitory domain (AID) and a C-terminal region required for beta subunit binding. The beta scaffolding subunit mediates AMPK assembly by bridging alpha and gamma subunits. The C-terminal domain of the AMPK alpha 1 subunit interacts with the C-terminal region of the beta subunit to form a tight alpha-beta complex that is associated with the gamma subunit. The AMPK alpha subunit auto-inhibitory region interacts with the kinase domain; this inhibition is negated by the interaction with the AMPK gamma subunit [].AMPK has been implicated in a number of diseases related to energy metabolism including type 2 diabetes, obesity and cancer [, ]. AMPK is activated by rising AMP concentrations coupled with falling ATP concentrations. Activation of AMPK is also dependent on the phosphorylation of alpha subunit by upstream kinases such as LKB1 [].The regulatory gamma subunit binds adenine nucleotides in the highly conserved nucleotide-binding domain consisting of four CBS motifs []. The gamma-1 subunit is the most abundant and shows wide tissue expression, as does gamma-2 whereas the gamma-3 isoform is almost exclusively expressed in skeletal muscle []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
AMPK, a serine/threonine protein kinase (STK), catalyzes the transfer of the gamma-phosphoryl group from ATP to S/T residues on protein substrates. It acts as a sensor for the energy status of the cell and is activated by cellular stresses that lead to ATP depletion such as hypoxia, heat shock, and glucose deprivation, among others. AMPK is a heterotrimer of three subunits: alpha, beta, and gamma []. The alpha subunit is the catalytic subunit and it contains an N-terminal kinase domain, a putative autoinhibitory domain (AID) and a C-terminal region required for beta subunit binding. The beta scaffolding subunit mediates AMPK assembly by bridging alpha and gamma subunits. The C-terminal domain of the AMPK alpha 1 subunit interacts with the C-terminal region of the beta subunit to form a tight alpha-beta complex that is associated with the gamma subunit. The AMPK alpha subunit auto-inhibitory region interacts with the kinase domain; this inhibition is negated by the interaction with the AMPK gamma subunit [].AMPK has been implicated in a number of diseases related to energy metabolism including type 2 diabetes, obesity and cancer [, ]. AMPK is activated by rising AMP concentrations coupled with falling ATP concentrations. Activation of AMPK is also dependent on the phosphorylation of alpha subunit by upstream kinases such as LKB1 [].The regulatory gamma subunit binds adenine nucleotides in the highly conserved nucleotide-binding domain consisting of four CBS motifs []. The gamma-1 subunit is the most abundant and shows wide tissue expression, as does gamma-2 whereas the gamma-3 isoform is almost exclusively expressed in skeletal muscle []. |
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Protein Domain |
Type: |
Family |
Description: |
AMPK, a serine/threonine protein kinase (STK), catalyzes the transfer of the gamma-phosphoryl group from ATP to S/T residues on protein substrates. It acts as a sensor for the energy status of the cell and is activated by cellular stresses that lead to ATP depletion such as hypoxia, heat shock, and glucose deprivation, among others. AMPK is a heterotrimer of three subunits: alpha, beta, and gamma []. The alpha subunit is the catalytic subunit and it contains an N-terminal kinase domain, a putative autoinhibitory domain (AID) and a C-terminal region required for beta subunit binding. The beta scaffolding subunit mediates AMPK assembly by bridging alpha and gamma subunits. The C-terminal domain of the AMPK alpha 1 subunit interacts with the C-terminal region of the beta subunit to form a tight alpha-beta complex that is associated with the gamma subunit. The AMPK alpha subunit auto-inhibitory region interacts with the kinase domain; this inhibition is negated by the interaction with the AMPK gamma subunit [].AMPK has been implicated in a number of diseases related to energy metabolism including type 2 diabetes, obesity and cancer [, ]. AMPK is activated by rising AMP concentrations coupled with falling ATP concentrations. Activation of AMPK is also dependent on the phosphorylation of alpha subunit by upstream kinases such as LKB1 [].The regulatory gamma subunit binds adenine nucleotides in the highly conserved nucleotide-binding domain consisting of four CBS motifs []. The gamma-1 subunit is the most abundant and shows wide tissue expression, as does gamma-2 whereas the gamma-3 isoform is almost exclusively expressed in skeletal muscle []. |
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Publication |
First Author: |
Pinter K |
Year: |
2013 |
Journal: |
J Muscle Res Cell Motil |
Title: |
Localisation of AMPK γ subunits in cardiac and skeletal muscles. |
Volume: |
34 |
Issue: |
5-6 |
Pages: |
369-78 |
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Publication |
First Author: |
Cheung PC |
Year: |
2000 |
Journal: |
Biochem J |
Title: |
Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding. |
Volume: |
346 Pt 3 |
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Pages: |
659-69 |
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Publication |
First Author: |
Caballero-Eraso C |
Year: |
2019 |
Journal: |
J Physiol |
Title: |
Leptin acts in the carotid bodies to increase minute ventilation during wakefulness and sleep and augment the hypoxic ventilatory response. |
Volume: |
597 |
Issue: |
1 |
Pages: |
151-172 |
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Publication |
First Author: |
Berciano MT |
Year: |
2020 |
Journal: |
Sci Rep |
Title: |
Nusinersen ameliorates motor function and prevents motoneuron Cajal body disassembly and abnormal poly(A) RNA distribution in a SMA mouse model. |
Volume: |
10 |
Issue: |
1 |
Pages: |
10738 |
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Publication |
First Author: |
Yamazaki D |
Year: |
2013 |
Journal: |
PLoS Genet |
Title: |
Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model. |
Volume: |
9 |
Issue: |
12 |
Pages: |
e1003983 |
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Publication |
First Author: |
Xu H |
Year: |
2005 |
Journal: |
BMC Cell Biol |
Title: |
A novel EB-1/AIDA-1 isoform, AIDA-1c, interacts with the Cajal body protein coilin. |
Volume: |
6 |
Issue: |
1 |
Pages: |
23 |
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Publication |
First Author: |
Gupta M |
Year: |
2016 |
Journal: |
Mamm Genome |
Title: |
Mouse models of Down syndrome: gene content and consequences. |
Volume: |
27 |
Issue: |
11-12 |
Pages: |
538-555 |
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Publication |
First Author: |
Zhang L |
Year: |
2012 |
Journal: |
Bioeng Bugs |
Title: |
Genetic analysis of Down syndrome facilitated by mouse chromosome engineering. |
Volume: |
3 |
Issue: |
1 |
Pages: |
8-12 |
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
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Publication |
First Author: |
Funato Y |
Year: |
2014 |
Journal: |
J Clin Invest |
Title: |
Membrane protein CNNM4-dependent Mg2+ efflux suppresses tumor progression. |
Volume: |
124 |
Issue: |
12 |
Pages: |
5398-410 |
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Publication |
First Author: |
Sanz P |
Year: |
2008 |
Journal: |
Curr Protein Pept Sci |
Title: |
AMP-activated protein kinase: structure and regulation. |
Volume: |
9 |
Issue: |
5 |
Pages: |
478-92 |
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Publication |
First Author: |
Cool B |
Year: |
2006 |
Journal: |
Cell Metab |
Title: |
Identification and characterization of a small molecule AMPK activator that treats key components of type 2 diabetes and the metabolic syndrome. |
Volume: |
3 |
Issue: |
6 |
Pages: |
403-16 |
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Publication |
First Author: |
Shackelford DB |
Year: |
2009 |
Journal: |
Nat Rev Cancer |
Title: |
The LKB1-AMPK pathway: metabolism and growth control in tumour suppression. |
Volume: |
9 |
Issue: |
8 |
Pages: |
563-75 |
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Publication |
First Author: |
Woods A |
Year: |
2003 |
Journal: |
Curr Biol |
Title: |
LKB1 is the upstream kinase in the AMP-activated protein kinase cascade. |
Volume: |
13 |
Issue: |
22 |
Pages: |
2004-8 |
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Publication |
First Author: |
Zhu L |
Year: |
2011 |
Journal: |
Structure |
Title: |
Structural insights into the architecture and allostery of full-length AMP-activated protein kinase. |
Volume: |
19 |
Issue: |
4 |
Pages: |
515-22 |
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Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
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Publication |
First Author: |
Stuiver M |
Year: |
2011 |
Journal: |
Am J Hum Genet |
Title: |
CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. |
Volume: |
88 |
Issue: |
3 |
Pages: |
333-43 |
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Publication |
First Author: |
Franken GAC |
Year: |
2021 |
Journal: |
Sci Rep |
Title: |
Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects. |
Volume: |
11 |
Issue: |
1 |
Pages: |
8217 |
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Publication |
First Author: |
Liu J |
Year: |
2005 |
Journal: |
J Mol Biol |
Title: |
Crystal structure of a heat-inducible transcriptional repressor HrcA from Thermotoga maritima: structural insight into DNA binding and dimerization. |
Volume: |
350 |
Issue: |
5 |
Pages: |
987-96 |
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Publication |
First Author: |
Kwon HY |
Year: |
2009 |
Journal: |
Mol Cells |
Title: |
Reduction-sensitive and cysteine residue-mediated Streptococcus pneumoniae HrcA oligomerization in vitro. |
Volume: |
27 |
Issue: |
2 |
Pages: |
149-57 |
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Publication |
First Author: |
Hitomi M |
Year: |
2003 |
Journal: |
J Bacteriol |
Title: |
Identification of a helix-turn-helix motif of Bacillus thermoglucosidasius HrcA essential for binding to the CIRCE element and thermostability of the HrcA-CIRCE complex, indicating a role as a thermosensor. |
Volume: |
185 |
Issue: |
1 |
Pages: |
381-5 |
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Publication |
First Author: |
Koopmans F |
Year: |
2019 |
Journal: |
Neuron |
Title: |
SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse. |
Volume: |
103 |
Issue: |
2 |
Pages: |
217-234.e4 |
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Publication |
First Author: |
Kasowitz SD |
Year: |
2018 |
Journal: |
PLoS Genet |
Title: |
Nuclear m6A reader YTHDC1 regulates alternative polyadenylation and splicing during mouse oocyte development. |
Volume: |
14 |
Issue: |
5 |
Pages: |
e1007412 |
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Publication |
First Author: |
Yu C |
Year: |
2016 |
Journal: |
Cell Res |
Title: |
Oocyte-expressed yes-associated protein is a key activator of the early zygotic genome in mouse. |
Volume: |
26 |
Issue: |
3 |
Pages: |
275-87 |
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Publication |
First Author: |
European Mouse Mutant Archive |
Year: |
2003 |
Journal: |
Unpublished |
Title: |
Information obtained from the European Mouse Mutant Archive (EMMA) |
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2016 |
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Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
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Publication |
First Author: |
Ko MS |
Year: |
2000 |
Journal: |
Development |
Title: |
Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. |
Volume: |
127 |
Issue: |
8 |
Pages: |
1737-49 |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
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Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
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Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
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Title: |
MGI Sequence Curation Reference |
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Publication |
First Author: |
Velocigene |
Year: |
2008 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
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Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
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Publication |
First Author: |
Hansen J |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. |
Volume: |
100 |
Issue: |
17 |
Pages: |
9918-22 |
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Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
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