C1-THF-Synthase
| {{#if: C1-THF-Synthase | C1-THF-Synthase | C1-THF-Synthase }} | |||||||||||||
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| Bändermodell der C1-THF-Synthase nach PDB 1A4I | |||||||||||||
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| Eigenschaften des menschlichen Proteins
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| Masse/Länge Primärstruktur | 934 Aminosäuren
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| Sekundär- bis Quartärstruktur |
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| Isoformen |
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| Bezeichner | |||||||||||||
| {{#if: | Gen-Namen | Gen-Name}} | Gen-Name(n) }} | {{#if:7432 | MTHFD1 | MTHFD1}}{{#if: |, }} }} | ||||||||||||
| Externe IDs |
{{#if:MTHFD1 |
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0 | }} | - = – | valid|1|2=/^[1-9]%d?%d?%d?%d?%d?%d?%d?%d?$/ | 0 | Wikipedia:Vorlagenfehler/Vorlage:PubChem}} | template= Vorlage:PubChem | format=
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| ATC-Code |
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| DrugBank | [1]
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| Wirkstoffklasse |
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| Transporter-Klassifikation | |||||||||||||
| TCDB | [2]
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| Bezeichnung |
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| EC, Kategorie | {{#if:3.5.4.9|3.5.4.9}}{{#if:Hydrolase|, Hydrolase}}
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| Peptidase-Familie | [3] |}} | ||||||||||||
| Reaktionsart | Hydrolyse | ||||||||||||
| Substrat | 5,10-Methenyl-THF(-PG) + H2O | ||||||||||||
| Produkte | 10-Formyl-THF(-PG)|- | EC, Kategorie | {{#if:6.3.4.3|6.3.4.3}}{{#if:Ligase|, Ligase}}
{{#if: | | ||||||||||
| Peptidase-Familie | [4] |}} | ||||||||||||
| Reaktionsart | Addition eines Formylrests | ||||||||||||
| Substrat | Tetrahydrofolat(-PG) + Formiat + ATP | ||||||||||||
| Produkte | 10-Formyl-THF(-PG) + ADP + Phosphat | | {{#if:|Inhibitorklassifikation|{{#if:|- | EC, Kategorie | {{#if:3.5.4.9|3.5.4.9}}{{#if:Hydrolase|, Hydrolase}}
{{#if: | | |||||||||
| Peptidase-Familie | [5] |}} | ||||||||||||
| Reaktionsart | Hydrolyse | ||||||||||||
| Substrat | 5,10-Methenyl-THF(-PG) + H2O | ||||||||||||
| Produkte | 10-Formyl-THF(-PG)|- | EC, Kategorie | {{#if:6.3.4.3|6.3.4.3}}{{#if:Ligase|, Ligase}}
{{#if: | | ||||||||||
| Peptidase-Familie | [6] |}} | ||||||||||||
| Reaktionsart | Addition eines Formylrests | ||||||||||||
| Substrat | Tetrahydrofolat(-PG) + Formiat + ATP | ||||||||||||
| Produkte | 10-Formyl-THF(-PG) + ADP + Phosphat|Enzymklassifikationen|Enzymklassifikation}}}} | ||||||||||||
| EC, Kategorie | {{#if:1.5.1.5| 1.5.1.5}}{{#if: Oxidoreduktase|, Oxidoreduktase}} }} | ||||||||||||
| MEROPS | [7]}} | ||||||||||||
| MEROPS | {{{Inhibitor_fam}}}}} | ||||||||||||
| Reaktionsart | (De-)Hydrierung
}} | ||||||||||||
| Substrat | 5,10-Methylen-THF(-PG) + NADP+
}} | ||||||||||||
| Produkte | 5,10-Methenyl-THF(-PG) + NADPH
}} | ||||||||||||
| EC, Kategorie | {{#if:3.5.4.9|3.5.4.9}}{{#if:Hydrolase|, Hydrolase}}
{{#if: | | ||||||||||||
| Peptidase-Familie | [8] |}} | ||||||||||||
| Reaktionsart | Hydrolyse | ||||||||||||
| Substrat | 5,10-Methenyl-THF(-PG) + H2O | ||||||||||||
| Produkte | 10-Formyl-THF(-PG) | ||||||||||||
| EC, Kategorie | {{#if:6.3.4.3|6.3.4.3}}{{#if:Ligase|, Ligase}}
{{#if: | | ||||||||||||
| Peptidase-Familie | [9] |}} | ||||||||||||
| Reaktionsart | Addition eines Formylrests | ||||||||||||
| Substrat | Tetrahydrofolat(-PG) + Formiat + ATP | ||||||||||||
| Produkte | 10-Formyl-THF(-PG) + ADP + Phosphat
}} | ||||||||||||
| Vorkommen | |||||||||||||
| {{#if: | [ {{#if: | Hovergen}}] | [http://hogenom.univ-lyon1.fr/query_sequence?seq=P11586 {{#if: | Hovergen}}]}} }} }} | |||||||||
| Opisthokonta }} | |||||||||||||
| }}
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| Mensch | Hausmaus | ||||||||||||
Entrez
{{ #if: 4522
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4522 | }}
{{ #if: 108156
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108156 | }} | |||||||||
style="background:#C3FDB8; color:#202122;" | Ensembl
{{ #if: ENSG00000100714
|
ENSG00000100714 | }}
{{ #if: ENSMUSG00000021048
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ENSMUSG00000021048 | }} | |||||||||
}
|- | style="background:#C3FDB8; color:#202122;" | UniProt {{ #if: P11586 | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P11586}}{{#if:|Vorlage:Abrufdatum}} | | }} {{ #if: Q922D8 | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|Q922D8}}{{#if:|Vorlage:Abrufdatum}} | | }} |- {{#if: NM_005956NM_138745 | | style="background:#C3FDB8; color:#202122;" | Refseq (mRNA) {{ #if: NM_005956 | | NM_005956 | | }} {{ #if: NM_138745 | | NM_138745 | | }} |}} |- {{#if: NP_005947NP_620084 | | style="background:#C3FDB8; color:#202122;" | Refseq (Protein) {{ #if: NP_005947 | | NP_005947 | | }} {{ #if: NP_620084 | | NP_620084 | | }} |}} |- {{#if: 146438803164463457127625523276319820 | | style="background:#C3FDB8; color:#202122;" | Genlocus {{#if: 14 | {{#if: 64388031 | {{#if: 64463457 | | #if: hg38 |?db=hg38|}}&position=chr14:64388031-64463457 Chr 14: {{#expr: 64388031 / 1000000 round 2}} – {{#expr: 64463457 / 1000000 round 2}} Mb | | }} | | }} | | }} {{#if: 12 | {{#if: 76255232 | {{#if: 76319820 | | #if: mm10 |?db=mm10|}}&position=chr12:76255232-76319820 Chr 12: {{#expr: 76255232 / 1000000 round 2}} – {{#expr: 76319820 / 1000000 round 2}} Mb | | }} | | }} | | }} |}} |- | style="background:#C3FDB8; color:#202122;" | PubMed-Suche {{ #if: 4522 | | 4522 | | }} {{ #if: 108156 | | 108156 | | }}
| |- | colspan="3" style="background:#90EE90; color:#202122; text-align:center;" | Orthologe (Mensch) |- | style="background:#C3FDB8; color:#202122;" | Entrez | colspan="2" | 4522
{{#if: ENSG00000100714
| |-
| style="background:#C3FDB8; color:#202122;" | Ensembl | colspan="2" | ENSG00000100714 }} |- | style="background:#C3FDB8; color:#202122;" | UniProt | colspan="2" | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P11586}}{{#if:|Vorlage:Abrufdatum}}
{{#if: NM_005956
| |-
| style="background:#C3FDB8; color:#202122;" | Refseq (mRNA) | colspan="2" | NM_005956 }}
{{#if: NP_005947
| |-
| style="background:#C3FDB8; color:#202122;" | Refseq (Protein) | colspan="2" | NP_005947 }}
{{#if: 14
| {{#if: 64388031
| {{#if: 64463457
| |-
| style="background:#C3FDB8; color:#202122;" | Genlocus | colspan="2" | #if: hg38 |?db=hg38|}}&position=chr14:64388031-64463457 Chr 14: {{#expr: 64388031 / 1000000 round 2}} – {{#expr: 64463457 / 1000000 round 2}} Mb
| }}
| }}
| }}
|- | style="background:#C3FDB8; color:#202122;" | PubMed-Suche | colspan="2" | 4522 }} {{#if: Hausmaus
| {{#if: 108156ENSMUSG00000021048NM_138745NP_620084mm10127625523276319820Q922D8
|
| Spezies2= ist definiert, es sind jedoch keine weiteren Angaben zu Spezies2 vorhanden.{{#ifeq:0|0| }} }}
| {{#if: 108156ENSMUSG00000021048NM_138745NP_620084mm10127625523276319820Q922D8
| Es sind Angaben zu Spezies2 vorhanden, Spezies2= ist jedoch nicht definiert.{{#ifeq:0|0| }}
|}}
}} | {{#if: Hausmaus | | colspan="3" style="background:#90EE90; color:#202122; text-align:center;" | Orthologe
|- | style="background:#C3FDB8; color:#202122;" | | style="background:#C3FDB8; color:#202122; text-align:center;" | Mensch | style="background:#C3FDB8; color:#202122; text-align:center;" | Hausmaus |- | style="background:#C3FDB8; color:#202122;" | Entrez {{ #if: 4522 | | 4522 | | }} {{ #if: 108156 | | 108156 | | }} |- {{#if: ENSG00000100714ENSMUSG00000021048 | | style="background:#C3FDB8; color:#202122;" | Ensembl {{ #if: ENSG00000100714 || ENSG00000100714 || }} {{ #if: ENSMUSG00000021048 || ENSMUSG00000021048 || }} |}} |- | style="background:#C3FDB8; color:#202122;" | UniProt {{ #if: P11586 | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P11586}}{{#if:|Vorlage:Abrufdatum}} | | }} {{ #if: Q922D8 | | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|Q922D8}}{{#if:|Vorlage:Abrufdatum}} | | }} |- {{#if: NM_005956NM_138745 | | style="background:#C3FDB8; color:#202122;" | Refseq (mRNA) {{ #if: NM_005956 | | NM_005956 | | }} {{ #if: NM_138745 | | NM_138745 | | }} |}} |- {{#if: NP_005947NP_620084 | | style="background:#C3FDB8; color:#202122;" | Refseq (Protein) {{ #if: NP_005947 | | NP_005947 | | }} {{ #if: NP_620084 | | NP_620084 | | }} |}} |- {{#if: 146438803164463457127625523276319820 | | style="background:#C3FDB8; color:#202122;" | Genlocus {{#if: 14 | {{#if: 64388031 | {{#if: 64463457 | | #if: hg38 |?db=hg38|}}&position=chr14:64388031-64463457 Chr 14: {{#expr: 64388031 / 1000000 round 2}} – {{#expr: 64463457 / 1000000 round 2}} Mb | | }} | | }} | | }} {{#if: 12 | {{#if: 76255232 | {{#if: 76319820 | | #if: mm10 |?db=mm10|}}&position=chr12:76255232-76319820 Chr 12: {{#expr: 76255232 / 1000000 round 2}} – {{#expr: 76319820 / 1000000 round 2}} Mb | | }} | | }} | | }} |}} |- | style="background:#C3FDB8; color:#202122;" | PubMed-Suche {{ #if: 4522 | | 4522 | | }} {{ #if: 108156 | | 108156 | | }}
| |- | colspan="3" style="background:#90EE90; color:#202122; text-align:center;" | Orthologe (Mensch) |- | style="background:#C3FDB8; color:#202122;" | Entrez | colspan="2" | 4522
{{#if: ENSG00000100714
| |-
| style="background:#C3FDB8; color:#202122;" | Ensembl | colspan="2" | ENSG00000100714 }} |- | style="background:#C3FDB8; color:#202122;" | UniProt | colspan="2" | {{#if: kurz| | UniProt }} {{#if:|{{{titel}}}|P11586}}{{#if:|Vorlage:Abrufdatum}}
{{#if: NM_005956
| |-
| style="background:#C3FDB8; color:#202122;" | Refseq (mRNA) | colspan="2" | NM_005956 }}
{{#if: NP_005947
| |-
| style="background:#C3FDB8; color:#202122;" | Refseq (Protein) | colspan="2" | NP_005947 }}
{{#if: 14
| {{#if: 64388031
| {{#if: 64463457
| |-
| style="background:#C3FDB8; color:#202122;" | Genlocus | colspan="2" | #if: hg38 |?db=hg38|}}&position=chr14:64388031-64463457 Chr 14: {{#expr: 64388031 / 1000000 round 2}} – {{#expr: 64463457 / 1000000 round 2}} Mb
| }}
| }}
| }}
|- | style="background:#C3FDB8; color:#202122;" | PubMed-Suche | colspan="2" | 4522 }} {{#if: Hausmaus
| {{#if: 108156ENSMUSG00000021048NM_138745NP_620084mm10127625523276319820Q922D8
|
| Spezies2= ist definiert, es sind jedoch keine weiteren Angaben zu Spezies2 vorhanden.{{#ifeq:0|0| }} }}
| {{#if: 108156ENSMUSG00000021048NM_138745NP_620084mm10127625523276319820Q922D8
| Es sind Angaben zu Spezies2 vorhanden, Spezies2= ist jedoch nicht definiert.{{#ifeq:0|0| }}
|}}
}} }}
|}{{#if:PBB_Protein_MTHFD1_image.jpg||}}
C1-THF-Synthase (genauer Zytoplasmatische C-1–Tetrahydrofolat-Synthase) heißt das Enzym in Eukaryoten, das drei verschiedene Reaktionen im Folsäure-Stoffwechsel katalysiert. Bakterienenzyme mit den gleichen Funktionen kommen nur als einzelne Proteine vor. Beim Menschen ist das Enzym in allen Gewebetypen zu finden, und es existiert ein paraloges mitochondriales Enzym, das allerdings nur Ligaseaktivität zeigt. Mutationen im MTHFD1-Gen können durch Verringerung einer oder mehrerer der drei Enzymfunktionen zu erhöhtem Risiko für Neuralrohrdefekten beim Neugeborenen führen, das durch Zufuhr von Folsäure während der ersten Schwangerschaftswochen gesenkt werden kann.<ref>{{#if: | | UniProt }} {{#if:|{{{titel}}}|P11586}}{{#if:|Vorlage:Abrufdatum}}</ref><ref>PROSITE-Eintrag</ref><ref>{{#invoke:Vorlage:Literatur|f}}{{#if:
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Das Risiko für Abruptio placentae ist bei Müttern, die homozygot für eine bestimmte Mutation des MTHFD1-Gens sind, mehrfach erhöht. Nach einer Studie an 600 Chinesen erhöhen bestimmte Varianten der C1-THF-Synthase die Homocystein-Werte und das Risiko für Magenkrebs. Auch für das pathologische Geschehen bei Migräne mit Aura werden einzelne Varianten des Enzyms verantwortlich gemacht.<ref>{{#invoke:Vorlage:Literatur|f}}{{#if:
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Katalysierte Reaktionen
THF + ATP + HCOO− <math>\longrightarrow</math>
<math>\longrightarrow</math> Formyl-THF + ADP + Phosphat
An Tetrahydrofolsäure (THF) wird eine Formylgruppe addiert, um 10-Formyl-THF zu erhalten.
Formyl-THF <math>\rightleftharpoons</math> Methenyl-THF + H2O
10-Formyl-THF wird zu 5,10-Methenyl-THF umgesetzt.
Methenyl-THF + NADPH <math>\rightleftharpoons</math> Methylen-THF + NADP+
5,10-Methenyl-THF wird zu 5,10-Methylen-THF hydriert.
Weblinks
|1|= – Lern- und Lehrmaterialien |0|-= |X|x={{#switch: 0
|0|4|10|12|14|100=}}
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- reactome.org: MTHFD1 dimer [cytosol]
Einzelnachweise
<references />