Disorders of folate metabolism and transport (Homo sapiens)
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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 3642403360 (978-3642403361)].
For more detail on MTHFR deficiency, please visit [1].
Quality Tags
Ontology Terms
Bibliography
- Fernando Scaglia, Nenad Blau; ''Disorders of Folate Metabolism and Transport''; Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic diseases, chapter 10, 2014
- Yuxiang Zheng, Lewis C Cantley; ''Toward a better understanding of folate metabolism in health and disease''; J Exp Med ., 2019 PubMed Europe PMC Scholia
History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
10-Formyl-THF | Metabolite | CHEBI:15637 (ChEBI) | |
5,10-Methenyl-THF | Metabolite | CHEBI:15638 (ChEBI) | |
5,10-Methylene-THF | Metabolite | CHEBI:1989 (ChEBI) | |
5-Formyl-THF | Metabolite | CHEBI:15640 (ChEBI) | |
5-Methyl-THF | Metabolite | CHEBI:15641 (ChEBI) | |
5-formimino-THF | Metabolite | CHEBI:15639 (ChEBI) | |
AICAR | Metabolite | CHEBI:2030 (ChEBI) | |
AICART | Protein | P31939 (Uniprot-TrEMBL) | |
CO2 | Metabolite | CHEBI:16526 (ChEBI) | |
DHF | Metabolite | CHEBI:15633 (ChEBI) | AKA 7,8-DHF |
DHFR | Protein | B0YJ76 (Uniprot-TrEMBL) | |
DNA methylation | Pathway | WP3359 (WikiPathways) | |
FAICAR | Metabolite | CHEBI:18381 (ChEBI) | |
FIGLU | Protein | 2.1.2.5 (Enzyme Nomenclature) | Assumption that FIGLU stands for: Glutamate formimidoyltransferase (not mentioned in book of Blau, but enzyme seems to relate to mentioned reaction). |
FITHFCH | Protein | O95954 (Uniprot-TrEMBL) | |
FTHFDH | Protein | O75891 (Uniprot-TrEMBL) | |
FTHFI | Protein |
| |
Folate receptor alpha | Protein | P15328 (Uniprot-TrEMBL) | |
Folic acid | Metabolite | CHEBI:27470 (ChEBI) | |
Formyl-GAR | Metabolite | CHEBI:18272 (ChEBI) | |
GAR | Metabolite | CHEBI:18349 (ChEBI) | |
GARTF | Protein | C9JKQ7 (Uniprot-TrEMBL) | |
Homocysteine | Metabolite | CHEBI:17230 (ChEBI) | |
L-glutamic acid | Metabolite | CHEBI:16015 (ChEBI) | |
L-histidine | Metabolite | CHEBI:15971 (ChEBI) | |
MS | Protein | Q99707 (Uniprot-TrEMBL) | |
MTHFCH | Protein | 3.5.4.9 (Enzyme Nomenclature) | MTHFCH: methenyl-THF cyclohydrolase |
MTHFD1 | GeneProduct | ENSG00000100714 (Ensembl) | |
MTHFD1 | Protein | P11586 (Uniprot-TrEMBL) | |
MTHFR | Protein | P42898 (Uniprot-TrEMBL) | |
MTHFS | Protein | ENSG00000136371 (Ensembl) | |
Methionine | Metabolite | CHEBI:16643 (ChEBI) | |
NH4+ | Metabolite | CHEBI:28938 (ChEBI) | |
PCFT | Protein | Q96NT5 (Uniprot-TrEMBL) | |
Protein methylation | Pathway | WP4073 (WikiPathways) | |
Purine Metabolism | Pathway | WP4224 (WikiPathways) | |
Pyrimidine metabolism | Pathway | WP4225 (WikiPathways) | |
SAH | Metabolite | CHEBI:16680 (ChEBI) | |
SAM | Metabolite | CHEBI:67040 (ChEBI) | |
SHMT1 | Protein | P34896 (Uniprot-TrEMBL) | |
SHMT | Protein | P34897 (Uniprot-TrEMBL) | AKA SHMT2; Rhea and UniProt confirm the '2' addition, whereas the Blau book chapter only mentions SHMT. |
THF | Metabolite | CHEBI:20506 (ChEBI) | |
TS | Protein | P04818 (Uniprot-TrEMBL) | |
Vitamin B12 | Metabolite | CHEBI:30411 (ChEBI) | |
dTMP | Metabolite | CHEBI:17013 (ChEBI) | |
dUMP | Metabolite | CHEBI:17622 (ChEBI) | |
glycine | Metabolite | CHEBI:15428 (ChEBI) | |
serine | Metabolite | CHEBI:17822 (ChEBI) |
Annotated Interactions
Source | Target | Type | Database reference | Comment |
---|---|---|---|---|
THF | 5,10-Methylene-THF | mim-conversion | 15483 (Rhea) | |
glycine | mim-conversion | 15483 (Rhea) | ||
serine | 15483 (Rhea) |