| Type |
Details |
Score |
| Publication |
| First Author: |
Deeks MJ |
| Year: |
2002 |
| Journal: |
Trends Plant Sci |
| Title: |
Formins: intermediates in signal-transduction cascades that affect cytoskeletal reorganization. |
| Volume: |
7 |
| Issue: |
11 |
| Pages: |
492-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cvrcková F |
| Year: |
2000 |
| Journal: |
Genome Biol |
| Title: |
Are plant formins integral membrane proteins? |
| Volume: |
1 |
| Issue: |
1 |
| Pages: |
RESEARCH001 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kim RH |
| Year: |
2006 |
| Journal: |
Br J Cancer |
| Title: |
Tumours and tremors: how PTEN regulation underlies both. |
| Volume: |
94 |
| Issue: |
5 |
| Pages: |
620-4 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Dobrikov M |
| Year: |
2011 |
| Journal: |
Mol Cell Biol |
| Title: |
Phosphorylation of eukaryotic translation initiation factor 4G1 (eIF4G1) by protein kinase C{alpha} regulates eIF4G1 binding to Mnk1. |
| Volume: |
31 |
| Issue: |
14 |
| Pages: |
2947-59 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ventoso I |
| Year: |
2001 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
HIV-1 protease cleaves eukaryotic initiation factor 4G and inhibits cap-dependent translation. |
| Volume: |
98 |
| Issue: |
23 |
| Pages: |
12966-71 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Foeger N |
| Year: |
2003 |
| Journal: |
J Biol Chem |
| Title: |
Human rhinovirus 2 2Apro recognition of eukaryotic initiation factor 4GI. Involvement of an exosite. |
| Volume: |
278 |
| Issue: |
35 |
| Pages: |
33200-7 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Adjibade P |
| Year: |
2017 |
| Journal: |
Sci Rep |
| Title: |
DDX3 regulates endoplasmic reticulum stress-induced ATF4 expression. |
| Volume: |
7 |
| Issue: |
1 |
| Pages: |
13832 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
This entry represents a group of DnaJ homologue subfamily C proteins, including GRV2 from Arabidopsis and DNAJC13 (also known as RME-8) from humans. They are involved in endocytosis. GRV2 functions in vesicle trafficking from the multivesicular body/pre-vacuolar compartment to the lytic vacuole []. In Arabidopsis grv2 mutants display enlarged aggregated endosomes, defective vacuole biogenesis and embryogenesis, and reduced gravitropic responses [, , ]. DNAJC13 plays a role in the endosomal transport machinery, in which it coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation [].DNAJC13 has been linked to Parkinson disease []. In humans, DNAJC13 localizes to early endosomal compartments via an N-terminal PI(3)P targeting motif and binds the co-chaperone Heat shock cognate-70 (Hsc70) through the central J domain, whereas the remainder interacts with the BAR-domain containing sorting nexin 1 (SNX1) protein and the FAM21 subunit of the WASH complex[]. |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
Formins (formin homology proteins) proteins play a crucial role in the reorganisation of the actin cytoskeleton and associate with the fast-growing end (barbed end) of actin filaments [, ]. This entry represents the formin homologues from plants. Seed plants have two formin clades with numerous paralogues []. They can be classified as class I and class II formins. Class I formins includes a N-terminal membrane insertion signal, a predicted extracytoplasmic Pro-rich stretch, a transmembrane region, and C-terminal FH1 and FH2 domains []. Though class II formins usually contain a N-terminal PTEN domain related to the human PTEN protein (implied in pathogenesis of the Parkinson disease) [], the N-termini of type-II plant formins do not contain any recognisable domain that can provide a clue to their biological function. |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
This entry represents eukaryotic translation initiation factor 4 gamma 1 (EIF4G1), which is a component of the eIF4F complex. The eIF4F complex is required for recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. Mitogen-activated protein kinases control translation by post-translational modification of translation initiation factors, and eIF4G1 is a substrate for protein kinase C []. As part of the eIF4F complex, EIF4G1 mediates endoplasmic reticulum stress-induced ATF4 (a master stress-induced transcription factor) mRNA translation []. Mutations in the EIF4G1 gene cause Parkinson disease 18, which is a neurodegenerative disorder with the following symptoms: bradykinesia, resting tremor, muscular rigidity and postural instability, and loss of dopaminergic neurons from the substantia nigra []. Viral infection can lead to the shutdown of translation by cleavage of EIF4G1, for example, by HIV-1 retropepsin [], rhinovirus picornain 2A []and foot-and-mouth disease virus L-peptidase []. |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
transgenic, targeted mutation, mutant strain, congenic |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zhang XM |
| Year: |
2019 |
| Journal: |
Hum Mol Genet |
| Title: |
The A30P α-synuclein mutation decreases subventricular zone proliferation. |
| Volume: |
28 |
| Issue: |
14 |
| Pages: |
2283-2294 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Taylor TN |
| Year: |
2014 |
| Journal: |
Neurobiol Dis |
| Title: |
Region-specific deficits in dopamine, but not norepinephrine, signaling in a novel A30P α-synuclein BAC transgenic mouse. |
| Volume: |
62 |
|
| Pages: |
193-207 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bachhuber T |
| Year: |
2015 |
| Journal: |
Nat Med |
| Title: |
Inhibition of amyloid-β plaque formation by α-synuclein. |
| Volume: |
21 |
| Issue: |
7 |
| Pages: |
802-7 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
transgenic, coisogenic |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Keomanivong C |
| Year: |
2024 |
| Journal: |
eNeuro |
| Title: |
Mice Expressing A53T/A30P Mutant Alpha-Synuclein in Dopamine Neurons Do Not Display Behavioral Deficits. |
| Volume: |
11 |
| Issue: |
2 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Pavia-Collado R |
| Year: |
2021 |
| Journal: |
Int J Mol Sci |
| Title: |
Intracerebral Administration of a Ligand-ASO Conjugate Selectively Reduces α-Synuclein Accumulation in Monoamine Neurons of Double Mutant Human A30P*A53T*α-Synuclein Transgenic Mice. |
| Volume: |
22 |
| Issue: |
6 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Paul S |
| Year: |
2022 |
| Journal: |
eNeuro |
| Title: |
Cyclin-Dependent Kinase 5 Regulates cPLA2 Activity and Neuroinflammation in Parkinson's Disease. |
| Volume: |
9 |
| Issue: |
6 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Jiao F |
| Year: |
2017 |
| Journal: |
Behav Brain Res |
| Title: |
Expression signatures of long non-coding RNA in the substantia nigra of pre-symptomatic mouse model of Parkinson's disease. |
| Volume: |
331 |
|
| Pages: |
123-130 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Tiwari S |
| Year: |
2022 |
| Journal: |
Cells |
| Title: |
UBA52 Is Crucial in HSP90 Ubiquitylation and Neurodegenerative Signaling during Early Phase of Parkinson's Disease. |
| Volume: |
11 |
| Issue: |
23 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yan J |
| Year: |
2017 |
| Journal: |
PLoS One |
| Title: |
Quantitative proteomics in A30P*A53T α-synuclein transgenic mice reveals upregulation of Sel1l. |
| Volume: |
12 |
| Issue: |
8 |
| Pages: |
e0182092 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Su X |
| Year: |
2015 |
| Journal: |
PLoS One |
| Title: |
PGC-1α Promoter Methylation in Parkinson's Disease. |
| Volume: |
10 |
| Issue: |
8 |
| Pages: |
e0134087 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
transgenic, coisogenic |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
transgenic, coisogenic |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Maraschi A |
| Year: |
2014 |
| Journal: |
Nat Commun |
| Title: |
Parkin regulates kainate receptors by interacting with the GluK2 subunit. |
| Volume: |
5 |
|
| Pages: |
5182 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, transgenic |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(Th-SNCA*A30P*A53T)39Eric/? |
| Background: |
involves: C57BL/6 |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(Slc6a3-PARK2*Q311X)AXwy/? |
| Background: |
FVB/NJ-Tg(Slc6a3-PARK2*Q311X)AXwy |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(Slc6a3-PARK2*Q311X)DXwy/? |
| Background: |
FVB/NJ-Tg(Slc6a3-PARK2*Q311X)DXwy |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Snca/Snca Tg(SNCA*A30P)192Rwm/? |
| Background: |
B6.Cg-Snca Tg(SNCA*A30P)#Rwm |
| Zygosity: |
cx |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(Th-SNCA*A30P*A53T)39Eric/? |
| Background: |
involves: C57BL/6 * C57BL/6J |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| HT Experiment |
| Series Id: |
GSE15336 |
| Experiment Type: |
transcription profiling by array |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Xiang J |
| Year: |
2024 |
| Journal: |
STAR Protoc |
| Title: |
Protocol for screening α-synuclein PET tracer candidates in vitro and ex vivo. |
| Volume: |
5 |
| Issue: |
1 |
| Pages: |
102788 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sato S |
| Year: |
2016 |
| Journal: |
Am J Pathol |
| Title: |
Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice. |
| Volume: |
186 |
| Issue: |
12 |
| Pages: |
3074-3082 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Smidt MP |
| Year: |
1997 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
A homeodomain gene Ptx3 has highly restricted brain expression in mesencephalic dopaminergic neurons. |
| Volume: |
94 |
| Issue: |
24 |
| Pages: |
13305-10 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Fernagut PO |
| Year: |
2004 |
| Journal: |
Neurobiol Dis |
| Title: |
Alpha-synuclein and transgenic mouse models. |
| Volume: |
17 |
| Issue: |
2 |
| Pages: |
123-30 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kéri S |
| Year: |
2010 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
{alpha}-Synuclein gene duplication impairs reward learning. |
| Volume: |
107 |
| Issue: |
36 |
| Pages: |
15992-4 |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Chchd2/Chchd2 |
| Background: |
C57BL/6-Chchd2 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Meehan TF |
| Year: |
2017 |
| Journal: |
Nat Genet |
| Title: |
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. |
| Volume: |
49 |
| Issue: |
8 |
| Pages: |
1231-1238 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Rozman J |
| Year: |
2018 |
| Journal: |
Nat Commun |
| Title: |
Identification of genetic elements in metabolism by high-throughput mouse phenotyping. |
| Volume: |
9 |
| Issue: |
1 |
| Pages: |
288 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Moore BA |
| Year: |
2018 |
| Journal: |
Commun Biol |
| Title: |
Identification of genes required for eye development by high-throughput screening of mouse knockouts. |
| Volume: |
1 |
|
| Pages: |
236 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Swan AL |
| Year: |
2020 |
| Journal: |
PLoS Genet |
| Title: |
Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density. |
| Volume: |
16 |
| Issue: |
12 |
| Pages: |
e1009190 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
715
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
479
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Silady RA |
| Year: |
2008 |
| Journal: |
Plant J |
| Title: |
The GRV2/RME-8 protein of Arabidopsis functions in the late endocytic pathway and is required for vacuolar membrane flow. |
| Volume: |
53 |
| Issue: |
1 |
| Pages: |
29-41 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gustavsson EK |
| Year: |
2015 |
| Journal: |
Mov Disord |
| Title: |
DNAJC13 genetic variants in parkinsonism. |
| Volume: |
30 |
| Issue: |
2 |
| Pages: |
273-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Follett J |
| Year: |
2019 |
| Journal: |
Neurosci Lett |
| Title: |
DNAJC13 p.Asn855Ser, implicated in familial parkinsonism, alters membrane dynamics of sorting nexin 1. |
| Volume: |
706 |
|
| Pages: |
114-122 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Tamura K |
| Year: |
2007 |
| Journal: |
Plant Cell |
| Title: |
Arabidopsis KAM2/GRV2 is required for proper endosome formation and functions in vacuolar sorting and determination of the embryo growth axis. |
| Volume: |
19 |
| Issue: |
1 |
| Pages: |
320-32 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Rodriguez-Furlan C |
| Year: |
2019 |
| Journal: |
Plant Cell |
| Title: |
Remove, Recycle, Degrade: Regulating Plasma Membrane Protein Accumulation. |
| Volume: |
31 |
| Issue: |
12 |
| Pages: |
2833-2854 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Silady RA |
| Year: |
2004 |
| Journal: |
Plant Physiol |
| Title: |
The gravitropism defective 2 mutants of Arabidopsis are deficient in a protein implicated in endocytosis in Caenorhabditis elegans. |
| Volume: |
136 |
| Issue: |
2 |
| Pages: |
3095-103; discussion 3002 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ko MS |
| Year: |
2021 |
| Journal: |
Autophagy |
| Title: |
Mitophagy deficiency increases NLRP3 to induce brown fat dysfunction in mice. |
| Volume: |
17 |
| Issue: |
5 |
| Pages: |
1205-1221 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
137
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
188
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
471
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
186
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
209
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
129
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
119
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
170
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
79
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
61
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
202
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
175
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Xhabija B |
| Year: |
2015 |
| Journal: |
J Biol Chem |
| Title: |
Receptor-mediated Endocytosis 8 Utilizes an N-terminal Phosphoinositide-binding Motif to Regulate Endosomal Clathrin Dynamics. |
| Volume: |
290 |
| Issue: |
35 |
| Pages: |
21676-89 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Domain |
| Description: |
This is the N-terminal domain of DNAJC13/GVR2, which is required for membrane association and interaction with FAM21 tail domain []. It contains critical residues mediating phosphatidylinositol 3-phosphate (PI(3)P) binding, required for its association with endosomes [].This entry represents a group of DnaJ homologue subfamily C proteins, including GRV2 from Arabidopsis and DNAJC13 (also known as RME-8) from humans. They are involved in endocytosis. GRV2 functions in vesicle trafficking from the multivesicular body/pre-vacuolar compartment to the lytic vacuole []. In Arabidopsis grv2 mutants display enlarged aggregated endosomes, defective vacuole biogenesis and embryogenesis, and reduced gravitropic responses [, , ]. DNAJC13 plays a role in the endosomal transport machinery, in which it coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation [].DNAJC13 has been linked to Parkinson disease []. In humans, DNAJC13 localizes to early endosomal compartments via an N-terminal PI(3)P targeting motif and binds the co-chaperone Heat shock cognate-70 (Hsc70) through the central J domain, whereas the remainder interacts with the BAR-domain containing sorting nexin 1 (SNX1) protein and the FAM21 subunit of the WASH complex[]. |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Diggle CP |
| Year: |
2016 |
| Journal: |
Am J Hum Genet |
| Title: |
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. |
| Volume: |
98 |
| Issue: |
4 |
| Pages: |
735-43 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gilbert SL |
| Year: |
2006 |
| Journal: |
Nat Genet |
| Title: |
Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice. |
| Volume: |
38 |
| Issue: |
2 |
| Pages: |
245-50 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Inglis KJ |
| Year: |
2009 |
| Journal: |
J Biol Chem |
| Title: |
Polo-like kinase 2 (PLK2) phosphorylates alpha-synuclein at serine 129 in central nervous system. |
| Volume: |
284 |
| Issue: |
5 |
| Pages: |
2598-602 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zhou B |
| Year: |
2001 |
| Journal: |
Nat Genet |
| Title: |
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. |
| Volume: |
28 |
| Issue: |
4 |
| Pages: |
345-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ihara M |
| Year: |
2007 |
| Journal: |
Neuron |
| Title: |
Sept4, a component of presynaptic scaffold and Lewy bodies, is required for the suppression of alpha-synuclein neurotoxicity. |
| Volume: |
53 |
| Issue: |
4 |
| Pages: |
519-33 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lassot I |
| Year: |
2018 |
| Journal: |
Cell Rep |
| Title: |
The E3 Ubiquitin Ligases TRIM17 and TRIM41 Modulate α-Synuclein Expression by Regulating ZSCAN21. |
| Volume: |
25 |
| Issue: |
9 |
| Pages: |
2484-2496.e9 |
|
•
•
•
•
•
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