| Type |
Details |
Score |
| Publication |
| First Author: |
Zambrowicz BP |
| Year: |
2003 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
| Volume: |
100 |
| Issue: |
24 |
| Pages: |
14109-14 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
GemPharmatech |
| Year: |
2020 |
|
| Title: |
GemPharmatech Website. |
|
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•
•
•
•
•
|
| Publication |
| First Author: |
Skarnes WC |
| Year: |
2011 |
| Journal: |
Nature |
| Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
| Volume: |
474 |
| Issue: |
7351 |
| Pages: |
337-42 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
| Year: |
2008 |
| Journal: |
Database Download |
| Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cyagen Biosciences Inc. |
| Year: |
2022 |
|
| Title: |
Cyagen Biosciences Website. |
|
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•
•
•
•
•
|
| Publication |
| First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
| Year: |
2011 |
|
| Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
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•
•
•
•
•
|
| Publication |
| First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
| Year: |
2004 |
| Journal: |
Database Release |
| Title: |
Mouse T31 Radiation Hybrid Data Load |
|
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|
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2010 |
|
| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
| Year: |
2010 |
|
| Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
| Year: |
2000 |
| Journal: |
Database Release |
| Title: |
Entrez Gene Load |
|
|
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|
•
•
•
•
•
|
| Publication |
| First Author: |
Allen Institute for Brain Science |
| Year: |
2004 |
| Journal: |
Allen Institute |
| Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion BAC337, Vincent M Christoffels |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence, Reporter |
|
•
•
•
•
•
|
| GO Term |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Guenther BD |
| Year: |
1999 |
| Journal: |
Nat Struct Biol |
| Title: |
The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia. |
| Volume: |
6 |
| Issue: |
4 |
| Pages: |
359-65 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lee MN |
| Year: |
2009 |
| Journal: |
Biochemistry |
| Title: |
Functional role for the conformationally mobile phenylalanine 223 in the reaction of methylenetetrahydrofolate reductase from Escherichia coli. |
| Volume: |
48 |
| Issue: |
32 |
| Pages: |
7673-85 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
This represents the catalytic domain of 5,10-methylenetetrahydrofolate reductase from prokaryotes and methylenetetrahydrofolate reductase (MTHFR) from eukaryotes (). Both convert 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate.Mammalian and yeast MTHFRs are homodimers in which each subunit contains an N-terminal catalytic domain, and a C-terminal regulatory domain to which the allosteric inhibitor adenosylmethionine binds []. NADPH is the preferred reductant. In humans, there are several clinically significant mutations in MTHFR that result in hyperhomocysteinemia, which is a risk factor for the development of cardiovascular disease [].The bacterial enzyme is a homotetramer. MTHFRs of enteric bacteria comprise shorter chains around 300 residues in length. Their sequences can be aligned with the N-terminal catalytic domains of the eukaryotic MTHFRs []. Escherichia coli MTHFR, along with plant MTHFRs, prefer NADHs as the source of reducing equivalents []. The structure of E. coli MTHFR is known to be a TIM barrel []. |
|
•
•
•
•
•
|
| HT Experiment |
| Series Id: |
GSE34010 |
| Experiment Type: |
transcription profiling by array |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
86
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
157
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
194
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
654
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
695
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
695
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
670
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Tran P |
| Year: |
2002 |
| Journal: |
Mol Genet Metab |
| Title: |
The curly-tail (ct) mouse, an animal model of neural tube defects, displays altered homocysteine metabolism without folate responsiveness or a defect in Mthfr. |
| Volume: |
76 |
| Issue: |
4 |
| Pages: |
297-304 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Narayanan N |
| Year: |
2013 |
| Journal: |
Int J Physiol Pathophysiol Pharmacol |
| Title: |
Hyperhomocysteinemia during aortic aneurysm, a plausible role of epigenetics. |
| Volume: |
5 |
| Issue: |
1 |
| Pages: |
32-42 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mishra PK |
| Year: |
2010 |
| Journal: |
Biochem Biophys Res Commun |
| Title: |
Attenuation of beta2-adrenergic receptors and homocysteine metabolic enzymes cause diabetic cardiomyopathy. |
| Volume: |
401 |
| Issue: |
2 |
| Pages: |
175-81 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Anthony TE |
| Year: |
2007 |
| Journal: |
J Comp Neurol |
| Title: |
The folate metabolic enzyme ALDH1L1 is restricted to the midline of the early CNS, suggesting a role in human neural tube defects. |
| Volume: |
500 |
| Issue: |
2 |
| Pages: |
368-83 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Koczor CA |
| Year: |
2015 |
| Journal: |
Physiol Genomics |
| Title: |
AZT-induced mitochondrial toxicity: an epigenetic paradigm for dysregulation of gene expression through mitochondrial oxidative stress. |
| Volume: |
47 |
| Issue: |
10 |
| Pages: |
447-54 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Greene ND |
| Year: |
2009 |
| Journal: |
Hum Mol Genet |
| Title: |
Genetics of human neural tube defects. |
| Volume: |
18 |
| Issue: |
R2 |
| Pages: |
R113-29 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Reagan AM |
| Year: |
2021 |
| Journal: |
bioRxiv |
| Title: |
The 677C>T variant in methylenetetrahydrofolate reductase causes morphological and functional cerebrovascular deficits in mice |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Leclerc D |
| Year: |
2013 |
| Journal: |
Mol Nutr Food Res |
| Title: |
Differential gene expression and methylation in the retinoid/PPARA pathway and of tumor suppressors may modify intestinal tumorigenesis induced by low folate in mice. |
| Volume: |
57 |
| Issue: |
4 |
| Pages: |
686-97 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Horsthuis T |
| Year: |
2008 |
| Journal: |
Circ Res |
| Title: |
Distinct regulation of developmental and heart disease-induced atrial natriuretic factor expression by two separate distal sequences. |
| Volume: |
102 |
| Issue: |
7 |
| Pages: |
849-59 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gerhard DS |
| Year: |
2004 |
| Journal: |
Genome Res |
| Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| Volume: |
14 |
| Issue: |
10B |
| Pages: |
2121-7 |
|
•
•
•
•
•
|