Disorders of folate metabolism and transport (Homo sapiens)

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<?xml version="1.0" encoding="UTF-8"?> <Pathway xmlns="http://pathvisio.org/GPML/2013a" Name="Disorders of Folate Metabolism and Transport" Version="20180413" Organism="Homo sapiens"> <Comment Source="WikiPathways-description">Folates play an essential role in one-carbon methyl transfer reactions, mediating several biological processes (e.g. DNA synthesis, epigentics by methylation, embryonic central nervous system development, cata-/anabolism of amino acids, and anabolism of thymidines, purines, and neurotransmitters. The biologically active folic acid derivative is 5,6,7,8-tetrahydrofolate (THF). Dietary folate is absorbed in the intestine, and stored in the liver for few months. [rephrased from chapter 10 of Blau et al, ISBN 978-3-642-40337-8]. For more detail on MTHFR deficiency, please visit [https://www.wikipathways.org/index.php/Pathway:WP4288].</Comment> <BiopaxRef>be9</BiopaxRef> <Graphics BoardWidth="1892.4445069337041" BoardHeight="1387.990552287898"/> <DataNode TextLabel="GARTF" GraphId="d4cff" Type="Protein"> <Graphics CenterX="105.41042416991905" CenterY="722.0808714276624" Width="90.0" Height="25.0" ZOrder="32891" FontSize="16" Valign="Middle"/> <Xref Database="Uniprot-TrEMBL" ID="C9JKQ7"/> </DataNode> <DataNode TextLabel="SAM" GraphId="a340a" Type="Metabolite"> <Graphics CenterX="1189.94403032499" CenterY="869.2971128654181" Width="118.70526023437482" Height="25.000000000000018" ZOrder="32892" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:67040"/> </DataNode> <DataNode TextLabel="serine" GraphId="c3947" Type="Metabolite"> <Graphics CenterX="894.4441322619823" CenterY="716.8462152743173" Width="90.0" Height="25.0" ZOrder="32893" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:17822"/> </DataNode> <DataNode TextLabel="THF" GraphId="a277d" Type="Metabolite"> <Graphics CenterX="794.8185990954771" CenterY="516.3803793718778" Width="148.18736432812477" Height="25.000000000000096" ZOrder="32894" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:20506"/> </DataNode> <DataNode TextLabel="5-Methyl-THF" GraphId="f021a" Type="Metabolite"> <Graphics CenterX="794.8185990954767" CenterY="987.2980068616479" Width="152.27169811321073" Height="25.000000000000085" ZOrder="32895" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:15641"/> </DataNode> <DataNode TextLabel="FIGLU" GraphId="e9dec" Type="Protein"> <Comment>Assumption that FIGLU stands for: Glutamate formimidoyltransferase (not mentioned in book of Blau, but enzyme seems to relate to mentioned reaction).</Comment> <Graphics CenterX="542.9964815875903" CenterY="946.7045711393699" Width="90.0" Height="25.0" ZOrder="32896" FontSize="16" Valign="Middle"/> <Xref Database="Enzyme Nomenclature" ID="2.1.2.5"/> </DataNode> <DataNode TextLabel="MTHFS" GraphId="ca4eb" Type="Protein"> <Graphics CenterX="528.0685099063571" CenterY="678.8146482766282" Width="90.0" Height="25.0" ZOrder="32897" FontSize="16" Valign="Middle"/> <Xref Database="Ensembl" ID="ENSG00000136371"/> </DataNode> <DataNode TextLabel="NH4+" GraphId="ca598" Type="Metabolite"> <Graphics CenterX="252.03542141316106" CenterY="895.8636519334553" Width="90.0" Height="25.0" ZOrder="32898" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:28938"/> </DataNode> <DataNode TextLabel="MTHFCH" GraphId="e7b23" Type="Protein"> <Comment>MTHFCH: methenyl-THF cyclohydrolase</Comment> <Graphics CenterX="255.59533904413908" CenterY="660.8782857779919" Width="90.0" Height="25.0" ZOrder="32899" FontSize="16" Valign="Middle"/> <Xref Database="Enzyme Nomenclature" ID="3.5.4.9"/> </DataNode> <DataNode TextLabel="L-glutamic acid" 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FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:15428"/> </DataNode> <DataNode TextLabel="L-histidine" GraphId="f6533" Type="Metabolite"> <Graphics CenterX="731.5248487309053" CenterY="868.2000677978981" Width="90.0" Height="25.0" ZOrder="32904" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:15971"/> </DataNode> <DataNode TextLabel="Homocysteine" GraphId="f2839" Type="Metabolite"> <Graphics CenterX="1103.6058851386035" CenterY="968.5018959913745" Width="118.70526023437482" Height="25.000000000000018" ZOrder="32905" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:17230"/> </DataNode> <DataNode TextLabel="DHF" GraphId="b4a33" Type="Metabolite"> <Graphics CenterX="794.8185990954771" CenterY="378.068465239365" Width="148.18736432812477" Height="25.000000000000096" ZOrder="32906" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:15633"/> </DataNode> <DataNode 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Width="90.0" Height="25.0" ZOrder="32916" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:30411"/> </DataNode> <DataNode TextLabel="5-formimino-THF" GraphId="b506a" Type="Metabolite"> <Graphics CenterX="338.053542318538" CenterY="999.925754753835" Width="148.18736432812477" Height="25.00000000000017" ZOrder="32917" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:15639"/> </DataNode> <DataNode TextLabel="5,10-Methenyl-THF" GraphId="ec5c0" Type="Metabolite"> <Graphics CenterX="338.053542318538" CenterY="794.0939562340913" Width="148.18736432812477" Height="25.000000000000018" ZOrder="32918" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:15638"/> </DataNode> <DataNode TextLabel="GAR" GraphId="acac9" Type="Metabolite"> <Graphics CenterX="105.41042416991905" CenterY="774.853596566074" Width="90.0" Height="25.0" ZOrder="32919" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:18349"/> </DataNode> <DataNode TextLabel="Formyl-GAR" GraphId="a6eb2" Type="Metabolite"> <Graphics CenterX="105.41042416991905" CenterY="667.3735213256538" Width="90.0" Height="25.0" ZOrder="32920" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:18272"/> </DataNode> <DataNode TextLabel="AICAR" GraphId="a4a57" Type="Metabolite"> <Graphics CenterX="105.41042416991905" CenterY="551.4271554367182" Width="90.0" Height="25.0" ZOrder="32921" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:2030"/> </DataNode> <DataNode TextLabel="FAICAR" GraphId="c059f" Type="Metabolite"> <Graphics CenterX="237.0059693155474" CenterY="463.7292260822739" Width="90.0" Height="25.0" ZOrder="32922" FontSize="16" Valign="Middle" Color="0000ff"/> <Xref Database="ChEBI" ID="CHEBI:18381"/> </DataNode> <DataNode TextLabel="10-Formyl-THF" GraphId="f11bb" Type="Metabolite"> <Graphics CenterX="338.053542318538" CenterY="516.3803793718779" 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