Disorders of Folate Metabolism and Transport (Homo sapiens)

From WikiPathways

Jump to: navigation, search
1IntestinesMTHFR deficiencyMTHFD1 deficiencyMTHFS deficiencyFolate ReceptorAlpha DeficiencyDHFR deficiencyHeriditary Folate MalabsorptionGARTFSAMserineTHF5-Methyl-THFFIGLUMTHFSNH4+MTHFCHL-glutamic acidSAHCO2glycineL-histidineHomocysteineDHFPyrimidine metabolismDNA methylationMethionineFolic acidPurine MetabolismProtein methylation5,10-Methylene-THFPCFTFolate receptor alphaVitamin B125-formimino-THF5,10-Methenyl-THFGARFormyl-GARAICARFAICAR10-Formyl-THF5-Formyl-THFdTMPdUMPAICARTTSFTHFIFTHFDHMSSHMTFITHFCHDHFRMTHFRMTHFD1Folic acidLiverBrainTHFCerebral folate deficiencydue to FOLR1 autoantibodies


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 [1].

Quality Tags

Ontology Terms

 

Bibliography

  1. Fernando Scaglia, Nenad Blau; ''Disorders of Folate Metabolism and Transport''; Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic diseases, 2014

History

View all...
CompareRevisionActionTimeUserComment
102719view14:00, 21 January 2019DeSlModified description
102717view13:34, 21 January 2019DeSlModified description
98280view15:56, 15 August 2018DeSlModified description
98279view15:56, 15 August 2018DeSlChanged layout of disease nodes, and layout of right side of PW for readability.
97896view08:35, 21 June 2018Jessev1993Made lay-out changes
97595view09:21, 28 May 2018DeSlModified description
97594view09:11, 28 May 2018DeSlConnected last unconnected line.
97593view09:10, 28 May 2018DeSlAdded last disease, changed layout, created better connections for RDF.
97575view13:31, 25 May 2018DeSlMore layout changes, connected side metabolites where they should have been
97574view12:53, 25 May 2018DeSlChanged layout, added disease IDs.
97295view20:47, 7 May 2018Khanspersconnected interaction
97162view13:22, 2 May 2018Jessev1993Added Pathway annotations
97161view12:18, 2 May 2018Jessev1993updated annotations, replaced unknown nodes with textlabels
97160view08:53, 2 May 2018DeSlOntology Term : 'vitamin B12 deficiency' added !
97159view08:52, 2 May 2018DeSlOntology Term : 'vitamin metabolic disorder' added !
97158view08:51, 2 May 2018DeSlOntology Term : 'central nervous system neuron' added !
97157view08:51, 2 May 2018DeSlOntology Term : 'methylenetetrahydrofolate reductase deficiency pathway' added !
97156view08:50, 2 May 2018DeSlOntology Term : 'cerebral folate receptor alpha deficiency' added !
96956view22:46, 22 April 2018AndraOntology Term : 'folate metabolic pathway' added !
96924view06:09, 20 April 2018EgonwReplaced secondary ChEBI identifiers with primary identifiers.
96914view13:05, 19 April 2018Jessev1993added data nodes
96891view12:48, 18 April 2018Jessev1993New pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
10-Formyl-THFMetaboliteCHEBI:15637 (ChEBI)
5,10-Methenyl-THFMetaboliteCHEBI:15638 (ChEBI)
5,10-Methylene-THFMetaboliteCHEBI:1989 (ChEBI)
5-Formyl-THFMetaboliteCHEBI:15640 (ChEBI)
5-Methyl-THFMetaboliteCHEBI:15641 (ChEBI)
5-formimino-THFMetaboliteCHEBI:15639 (ChEBI)
AICARMetaboliteCHEBI:2030 (ChEBI)
AICARTProteinP31939 (Uniprot-TrEMBL)
CO2MetaboliteCHEBI:16526 (ChEBI)
DHFMetaboliteCHEBI:15633 (ChEBI)
DHFRProteinB0YJ76 (Uniprot-TrEMBL)
DNA methylationPathwayWP3359 (WikiPathways)
FAICARMetaboliteCHEBI:18381 (ChEBI)
FIGLUProtein2.1.2.5 (Enzyme Nomenclature) Assumption that FIGLU stands for: Glutamate formimidoyltransferase (not mentioned in book of Blau, but enzyme seems to relate to mentioned reaction).
FITHFCHProteinO95954 (Uniprot-TrEMBL)
FTHFDHProteinO75891 (Uniprot-TrEMBL)
FTHFIProteinFormyl-THF isomerase
Folate receptor alphaProteinP15328 (Uniprot-TrEMBL)
Folic acidMetaboliteCHEBI:27470 (ChEBI)
Formyl-GARMetaboliteCHEBI:18272 (ChEBI)
GARMetaboliteCHEBI:18349 (ChEBI)
GARTFProteinC9JKQ7 (Uniprot-TrEMBL)
HomocysteineMetaboliteCHEBI:17230 (ChEBI)
L-glutamic acidMetaboliteCHEBI:16015 (ChEBI)
L-histidineMetaboliteCHEBI:15971 (ChEBI)
MSProteinQ99707 (Uniprot-TrEMBL)
MTHFCHProtein3.5.4.9 (Enzyme Nomenclature) MTHFCH: methenyl-THF cyclohydrolase
MTHFD1GeneProductENSG00000100714 (Ensembl)
MTHFRProteinP42898 (Uniprot-TrEMBL)
MTHFSProteinENSG00000136371 (Ensembl)
MethionineMetaboliteCHEBI:16643 (ChEBI)
NH4+MetaboliteCHEBI:28938 (ChEBI)
PCFTProteinQ96NT5 (Uniprot-TrEMBL)
Protein methylationPathwayWP4073 (WikiPathways)
Purine MetabolismPathwayWP4224 (WikiPathways)
Pyrimidine metabolismPathwayWP4225 (WikiPathways)
SAHMetaboliteCHEBI:16680 (ChEBI)
SAMMetaboliteCHEBI:67040 (ChEBI)
SHMTProteinA0A024RB99 (Uniprot-TrEMBL)
THFMetaboliteCHEBI:20506 (ChEBI)
TSProteinP04818 (Uniprot-TrEMBL)
Vitamin B12MetaboliteCHEBI:30411 (ChEBI)
dTMPMetaboliteCHEBI:17013 (ChEBI)
dUMPMetaboliteCHEBI:17622 (ChEBI)
glycineMetaboliteCHEBI:15428 (ChEBI)
serineMetaboliteCHEBI:17822 (ChEBI)

Annotated Interactions

No annotated interactions

Personal tools