Disorders of folate metabolism and transport (Homo sapiens)

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1BrainSAMPurine MetabolismDHFProton-coupled folate transporterFolate receptor alphaL-histidineMethionineDNA methylation5,10-Methylene-THFFormate5-Methyl-THFL-glutamic acidMTHFSNH4+THFGlycineCO2Vitamin B12Formiminoglutamic acidGARTSAHMTHFR deficiencyHomocysteineFolic acidSerineDNA synthesis5-formimino-THF5,10-Methenyl-THFGARFormyl-GARAICARFAICAR10-Formyl-THF5-Formyl-THFdTMPdUMPAICARTTSFTHFIFTHFDHMSSHMTFITHFCHDHFRMTHFRMTHFD1THFMTHFS deficiencyMTHFD1 deficiencyDHFR deficiencyHeriditary Folate MalabsorptionFolate ReceptorAlpha DeficiencyIntestinesDHFRDHFR deficiencyMTHFD1MTHFD1LiverFolic acid


Description

Folate metabolism and transport

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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, chapter 10, 2014
  2. 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

View all...
CompareRevisionActionTimeUserComment
140805view02:19, 29 October 2025EweitzOntology Term : 'hepatocyte' added !
140761view05:16, 22 October 2025EgonwNH₄⁺ with unicode
140504view05:59, 3 September 2025EgonwCO₂
137600view15:45, 5 March 2025EgonwModified description
137583view06:24, 5 March 2025EgonwL-serine (according to Rhea, https://www.rhea-db.org/rhea/15481)
128548view22:43, 11 February 2024EweitzSoften disease color, standardize case
126062view14:05, 31 March 2023DeSl
124234view09:57, 3 October 2022DeSlOntology Term : 'megaloblastic anemia' added !
124233view09:52, 3 October 2022DeSlUpdated OMIM-ID for MTHFD1 deficiency
124232view09:50, 3 October 2022DeSlOntology Term : 'glutamate formiminotransferase deficiency' added !
124231view09:50, 3 October 2022DeSlOntology Term : 'BH4-deficient hyperphenylalaninemia C' added !
124229view09:47, 3 October 2022DeSlConnected FIGLU-Uria to another interaction
124227view09:33, 3 October 2022DeSlAdded two more disorders not mentioned in the book
124226view09:29, 3 October 2022DeSlAdded comment for FTHFDH
124225view09:27, 3 October 2022DeSlAdded mitochondria drawing for ALDH1L2
124224view09:26, 3 October 2022DeSlAdded last missing disease from chapter, added more rhea IDs and proteins
124223view09:15, 3 October 2022DeSluPDATED SEVERAL PROTEINS AND DISEASES, STARTED ADDING RHEA idS TO INTERACTIONS
124221view08:56, 3 October 2022DeSlAdded legend
124220view08:55, 3 October 2022DeSlConverted GeneProduct MTHFD1 to Protein DataNode
124219view08:53, 3 October 2022DeSlAdded additional conversions from qDHF
124208view09:39, 29 September 2022DeSlAdded new metabolite reaction (qDHF) based on InchiKey
124207view08:35, 29 September 2022DeSlConverted FTHFI to textLabel, since there is no evidence found that this protein is active in humans.
124206view08:33, 29 September 2022DeSlAdded some more enzymes to THF->5,10-M-THF conversion based on lit. ref.
124205view08:18, 29 September 2022DeSlAdded new ref for whole PWM
124204view08:15, 29 September 2022DeSlUpdated interactions from textlabels, added mim-translocation, added rhea ID for SHMT-catalyzed reaction
124203view08:04, 29 September 2022DeSlAdded some more dteails on FTHFI
119256view19:45, 22 June 2021FinterlyAdded ISBN for book citation
117700view12:21, 22 May 2021EweitzModified title
108786view15:33, 29 January 2020DeSlReplaced A0A024RB99 (unreviewed) with P34897 (reviewed) for SHMT Protein
108078view11:47, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
104641view07:16, 7 June 2019JosienlandmanConverted interaction lines to diseases into graphical lines
104021view17:37, 25 April 2019IreneHemelModified description
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 !

External references

DataNodes

View all...
NameTypeDatabase referenceComment
10-Formyl-THFMetaboliteCHEBI:698 (ChEBI)
5,10-Methenyl-THFMetaboliteCHEBI:1987 (ChEBI)
5,10-Methylene-THFMetaboliteCHEBI:1989 (ChEBI)
5-Formyl-THFMetaboliteCHEBI:2057 (ChEBI)
5-Methyl-THFMetaboliteCHEBI:15641 (ChEBI)
5-formimino-THFMetaboliteCHEBI:18603 (ChEBI)
AICARMetaboliteCHEBI:2030 (ChEBI)
AICARTProteinP31939 (Uniprot-TrEMBL)
Brain
CO2MetaboliteCHEBI:3283 (ChEBI)
DHFMetaboliteCHEBI:4564 (ChEBI)
DHFR deficiency
DHFRProteinB0YJ76 (Uniprot-TrEMBL)
DNA methylationPathway
DNA synthesisPathway
FAICARMetaboliteCHEBI:18381 (ChEBI)
FITHFCHProteinO95954 (Uniprot-TrEMBL)
FTHFDHProteinO75891 (Uniprot-TrEMBL)
FTHFIProtein
Folate Receptor Alpha Deficiency
Folate receptor alphaProteinP15328 (Uniprot-TrEMBL)
Folic acidMetaboliteCHEBI:27470 (ChEBI)
FormateMetaboliteCHEBI:30751 (ChEBI)
Formiminoglutamic acidMetaboliteHMDB00854 (HMDB)
Formyl-GARMetaboliteCHEBI:1982 (ChEBI)
GARMetaboliteCHEBI:1983 (ChEBI)
GARTProteinC9JKQ7 (Uniprot-TrEMBL)
GlycineMetabolite
Heriditary Folate Malabsorption
HomocysteineMetaboliteCHEBI:17230 (ChEBI)
Intestines
L-glutamic acidMetaboliteCHEBI:16015 (ChEBI)
L-histidineMetaboliteCHEBI:15971 (ChEBI)
Liver
MSProteinQ99707 (Uniprot-TrEMBL)
MTHFD1 deficiency
MTHFD1GeneProductENSG00000100714 (Ensembl)
MTHFR deficiency
MTHFRProteinP42898 (Uniprot-TrEMBL)
MTHFS deficiency
MTHFSProteinENSG00000136371 (Ensembl)
MethionineMetaboliteCHEBI:16643 (ChEBI)
NH4+MetaboliteCHEBI:7435 (ChEBI)
Proton-coupled folate transporterProteinQ96NT5 (Uniprot-TrEMBL)
Purine MetabolismPathway
SAHMetaboliteCHEBI:16680 (ChEBI)
SAMMetaboliteCHEBI:67040 (ChEBI)
SHMTProteinA0A024RB99 (Uniprot-TrEMBL)
SerineMetabolite
THFMetabolite
THFMetaboliteCHEBI:20506 (ChEBI)
TSProteinP04818 (Uniprot-TrEMBL)
Vitamin B12MetaboliteCHEBI:30411 (ChEBI)
dTMPMetaboliteCHEBI:17013 (ChEBI)
dUMPMetaboliteCHEBI:10532 (ChEBI)

Annotated Interactions

No annotated interactions

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