Metabolic epileptic disorders (Homo sapiens)

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167629131747, 919111481193201120351410121212CytosolMitochondrionPerixosomePerixosomeEndoplasmic reticullumAccumulationLegendAccumulationNo reactionDissipationNo reactionLow reaction rateDissipationcitrateGlycineMOCS18-[(Aminomethyl)sulfanyl]-6-sulfanyloctanoic acidAllysineGLDCMoCoL-cysteineBiotinyl-5'-AMPSLC25A1L-glutamic acidAmmoniaPhosphateCrotonoyl-CoAXDHSPCS1CDO1L-serineMetaboliteSLC7A2GPTAllysineSulfateSUOXAcetoacetyl-CoAHomocysteineGlutathione perfsulfideOxoadipic acidBiocytinSLC25A5L-Pipecolic acidUric acidBiotin carboxyl carrier proteinNADBiocytinMetaboliteGlutaryl-CoASLC25A15Orotidylic acidGTPHydrogen sulfidezincCysteine sulfinic acidPyridoxine dependent epilepsyPhosphoserine2-oxoglutarateBiotin2-Ketobutyric acidAminoadipic acidETHE1Guanidoacetic acidOrnithineACAT1Saccharopine3-Hydroxybutyryl-CoAhypoxanthine5,10-Methylene-THFL-alanineBiotinidase3-Sulfinylpyruvic acidsulfite(S)-2,3,4,5-tetrahydropyridine-2-carboxylic acidSLC1A5L-GlutaminexanthineL-cystathionineCitrullinePyridoxal 5'-phosphateArgininosuccinic acidL-lysineOxoglutaric acidCysteineCBSL-lysineL-lysine7, 9WaterNADPHAASSNADPOxoglutaric acid7, 9WaterNADPHAASSNADPL-Glutamic acid7, 9FADOxygenHydrogen peroxide7, 9Water7, 9NADPHALDH7A1NADPWaterBiotinidase deficiency 20L-lysineWaterBiotin20PyrophosphateHLCSATPHLCSNon-Ketotic Hyperglycinemia GLDCCarbon dioxide(R)-Lipoic acidDihydrolipoateAMTDLDNADHL-arginine23, 24GAMTS-AdenosylhomocysteineS-AdenosylmethionineCreatineCreatine DeficiencyFumaric acidASL21, 22AMPATPASS1NADPL-aspartic acidARG1UreaWaterCitrullinemia Type ISLC25A15OrnithineCitrullineOTCCarbamoyl phosphatePhosphatePhosphoric acid WaterCPS1ADPATPAmmoniaAccumulationAccumulationAccumulationAccumulationLow reaction rateL-GlutamineGLS2WaterHydrogen IonSLC1A5L-alanineAccumulationAccumulationAccumulationNADGLUD1WaterNADH7SLC7A2AccumulationAccumulationDissipationL-Glutamic acidOxoglutaric acidDHTKD1AADATCoenzyme AGCDHCarbon dioxideECHS1WaterHADHNADNADHCoenzyme AAccumulationAccumulationAccumulationDLDPCOxaloacetateAcetyl-CoAGOT2PDHA1MDH2DLATPyruvateMalateMPC2MPC1AspartateTCA Cycle18TPI1MalatePFKP2P-GlycerateFBP1ALDOALDHAL6BPKM1ALDOCSLC2A2GOT1OxaloacetateGAPDH1,3BP-GlyceratePFKMPGK13P-GlycerateMDH1PKLRSLC2A5LDHAFructose-1,6BPHK1LactateSLC2A1PGAM2PFKLGlucoseENO3ENO1Glyceraldehyde 3PPyruvateLDHCHK3Fructose 6PGlucoseLDHBENO2G6PCHK2PCK1PGK2SLC2A4Dihydroxyacetone-PP-enolpyruvateFBP2AspartateSLC2A3Glucose-6PGCKPGAM1PKM2ALDOBGlucose-6P (open)PGIFructose 6P (open)GPIcitrateLow reaction rateLow reaction rateACO1Low reaction rateGlutamine deprivation1515SFXN1SHMT1L-serine15SHMT2Low reaction rateLow reaction rateLow reaction rateLow reaction rateGLUT1 deficiency syndromeCitrate Transporter DisorderPSPH11PSAT1Phosphohydroxypyruvic acid1111PHGDHSerine deficiencyWaterCTHWaterWatersulfite12SQORCBSXDH22MOCS2GPHNMOCS3No reactionAccumulationAccumulationAccumulationNo reactionNo reactionMolybdenum cofactor deficiencyMutationBindingConversionModificationCatalysisCause of mutationInhibition


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Bibliography

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  1. Tan M, Mosaoa R, Graham GT, Kasprzyk-Pawelec A, Gadre S, Parasido E, Catalina-Rodriguez O, Foley P, Giaccone G, Cheema A, Kallakury B, Albanese C, Yi C, Avantaggiati ML; ''Inhibition of the mitochondrial citrate carrier, Slc25a1, reverts steatosis, glucose intolerance, and inflammation in preclinical models of NAFLD/NASH.''; Cell Death Differ, 2020 PubMed Europe PMC Scholia
  2. Alonzo Martínez MC, Cazorla E, Cánovas E, Anniuk K, Cores AE, Serrano AM; ''Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature.''; Appl Clin Genet, 2020 PubMed Europe PMC Scholia
  3. Mayr SJ, Mendel RR, Schwarz G; ''Molybdenum cofactor biology, evolution and deficiency.''; Biochim Biophys Acta Mol Cell Res, 2021 PubMed Europe PMC Scholia
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  5. van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ; ''An update on serine deficiency disorders.''; J Inherit Metab Dis, 2013 PubMed Europe PMC Scholia
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History

View all...
CompareRevisionActionTimeUserComment
129474view01:13, 24 April 2024EweitzOntology Term : 'molybdenum cofactor deficiency pathway' added !
129473view01:10, 24 April 2024EweitzOntology Term : 'epilepsy' added !
129472view01:09, 24 April 2024EweitzOntology Term : 'Glut1 deficiency syndrome pathway' added !
129471view01:08, 24 April 2024EweitzModified title
127088view00:56, 2 August 2023Khanspersmoved disorder labels to bounding boxes, renamed pathway
126899view13:49, 30 June 2023JmillanacostaOntology Term : 'metabolic disease pathway' added !
126534view14:08, 28 May 2023BhavanakapalliModified description
126533view13:59, 28 May 2023Bhavanakapallifixed interactions
126532view12:50, 26 May 2023Bhavanakapalliedited mutated genes and added labellings
126516view15:02, 22 May 2023BhavanakapalliModified description
126515view15:00, 22 May 2023BhavanakapalliModified description
126514view14:50, 22 May 2023BhavanakapalliModified description
126513view14:43, 22 May 2023Bhavanakapalliadded mutation
126512view18:51, 21 May 2023EgonwReverted the previous edit (covalent binding, so possibly fine, and we have more examples like that), but metabolite to pathways is not a conversion.
126511view18:44, 21 May 2023EgonwNot a mim-conversion
126506view12:04, 13 May 2023Bhavanakapalliadded inetractions and changed some arrows to represent translocation
126483view12:38, 8 May 2023Bhavanakapallifixed alignment
126181view08:24, 13 April 2023Bhavanakapalliidentifiers corrected; references added; legend edited
126177view05:41, 13 April 2023EgonwUpdated the UniProt data sources
126164view07:33, 12 April 2023Ash iyerOntology Term : 'PW:0000013' removed !
126163view07:33, 12 April 2023Ash iyerOntology Term : 'neuropsychiatric disease pathway' added !
126162view07:32, 12 April 2023Ash iyerOntology Term : 'disease pathway' added !
126141view12:36, 11 April 2023Ash iyercorrected
126137view12:20, 11 April 2023Ash iyerSome datanodes with incorrect database selection corrected.
126128view11:24, 11 April 2023Bhavanakapallilegend
126127view11:09, 11 April 2023BhavanakapalliNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
(R)-Lipoic acidMetaboliteHMDB01451 (HMDB)
(S)-2,3,4,5-tetrahydropyridine -2-carboxylic acidMetaboliteCHEBI:49014 (ChEBI)
1,3BP-GlycerateMetaboliteHMDB0001270 (HMDB)
2-Ketobutyric acidMetaboliteHMDB00005 (HMDB)
2-oxoglutarateMetaboliteCHEBI:16810 (ChEBI)
2P-GlycerateMetaboliteHMDB0000362 (HMDB)
3-Hydroxybutyryl-CoAMetaboliteHMDB01166 (HMDB)
3-Sulfinylpyruvic acidMetaboliteHMDB01405 (HMDB)
3P-GlycerateMetaboliteHMDB0000807 (HMDB)
5,10-Methylene-THFMetaboliteHMDB01533 (HMDB)
8-[(Aminomethyl)sulfanyl]-6- sulfanyloctanoic acidMetaboliteHMDB13639 (HMDB)
AADATProteinQ8N5Z0 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
AASSGeneProductA4D0W4 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
ACAT1ProteinP24752 (Uniprot-TrEMBL)
ACO1ProteinP21399 (Uniprot-TrEMBL) glucose-6-phosphate isomerase
ADPMetaboliteHMDB0001341 (HMDB)
ALDH7A1GeneProductENSG00000164904 (Ensembl) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
ALDOAGeneProduct226 (Entrez Gene)
ALDOBGeneProduct229 (Entrez Gene)
ALDOCGeneProduct230 (Entrez Gene)
AMPMetaboliteHMDB0000045 (HMDB)
AMTGeneProduct275 (Entrez Gene) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077
ARG1 GeneProductP05089 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
ASL GeneProductP04424 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077
ASS1GeneProductP00966 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
ATPMetaboliteCHEBI:30616 (ChEBI)
ATPMetaboliteHMDB0000538 (HMDB)
Acetoacetyl-CoAMetaboliteHMDB01484 (HMDB)
Acetyl-CoAMetaboliteHMDB0001206 (HMDB)
AllysineMetaboliteHMDB01263 (HMDB)
Aminoadipic acidMetaboliteHMDB00510 (HMDB)
AmmoniaMetaboliteHMDB00051 (HMDB)
Argininosuccinic acidMetaboliteHMDB00052 (HMDB)
AspartateMetaboliteHMDB0000191 (HMDB)
Biocytin MetaboliteHMDB0003134 (HMDB)
Biotin carboxyl carrier proteinProteinQ42533 (Uniprot-TrEMBL)
BiotinMetaboliteHMDB00030 (HMDB)
Biotinidase deficiency Pathway
BiotinidaseProteinP43251 (Uniprot-TrEMBL)
Biotinyl-5'-AMPMetaboliteHMDB04220 (HMDB)
CBSProteinP35520 (Uniprot-TrEMBL)
CDO1ProteinQ16878 (Uniprot-TrEMBL)
CPS1GeneProductP31327 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
CTHProteinP32929 (Uniprot-TrEMBL)
Carbamoyl phosphateMetaboliteHMDB01096 (HMDB)
Carbon dioxideMetaboliteHMDB01967 (HMDB)
Citrate Transporter Disorder
CitrullineMetaboliteHMDB00904 (HMDB)
Citrullinemia Type I
Coenzyme AMetaboliteHMDB01423 (HMDB)
Creatine Deficiency
CreatineMetaboliteCHEBI:16919 (ChEBI)
Crotonoyl-CoAMetaboliteCHEBI:15473 (ChEBI)
Cysteine sulfinic acidMetaboliteHMDB0250705 (HMDB)
CysteineMetaboliteCHEBI:15356 (ChEBI)
DHTKD1ProteinH7C1J3 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
DLATGeneProduct1737 (Entrez Gene)
DLDGeneProduct1738 (Entrez Gene)
DihydrolipoateMetaboliteHMDB12210 (HMDB)
Dihydroxyacetone-PMetaboliteHMDB0001473 (HMDB)
ECHS1ProteinP30084 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
ENO1GeneProduct2023 (Entrez Gene)
ENO2GeneProduct2026 (Entrez Gene)
ENO3GeneProduct2027 (Entrez Gene)
ETHE1ProteinO95571 (Uniprot-TrEMBL)
FADMetaboliteCHEBI:16238 (ChEBI) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000103485
FBP1GeneProduct2203 (Entrez Gene)
FBP2GeneProduct8789 (Entrez Gene)
Fructose 6P (open)MetaboliteCHEBI:57579 (ChEBI) fructose-6-phosphate (2-) open form
Fructose 6PMetaboliteCHEBI:61527 (ChEBI)
Fructose-1,6BPMetaboliteHMDB0001058 (HMDB)
Fumaric acidMetaboliteHMDB00134 (HMDB)
G6PCGeneProduct2538 (Entrez Gene) Not present in brain and muscle, so those organs can not produce their own glucose in the gluconeogenesis pathway
GAMT GeneProductQ14353 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077
GAPDHGeneProductENSG00000111640 (Ensembl)
GCDHProteinQ92947 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
GCKGeneProduct2645 (Entrez Gene) Gck is mainly active in liver
GLDCGeneProduct2731 (Entrez Gene) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000151790
GLDCGeneProductP23378 (Uniprot-TrEMBL)
GLS2GeneProductQ9UI32 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077
GLUD1GeneProductP00367 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000172890
GLUT1 deficiency syndrome
GOT1GeneProduct2805 (Entrez Gene)
GOT2GeneProduct2806 (Entrez Gene)
GPHNGeneProductENSG00000171723 (Ensembl)
GPIGeneProduct2821 (Entrez Gene) glucose-6-phosphate isomerase
GPTProteinP24298 (Uniprot-TrEMBL)
GTPMetaboliteCHEBI:37565 (ChEBI)
Glucose-6P (open)MetaboliteCHEBI:57584 (ChEBI) D-Glucose-6-Phosphate (2-) open form
Glucose-6PMetaboliteCHEBI:75052 (ChEBI) Glucose-6-Phosphate (2-)
GlucoseMetaboliteHMDB0000122 (HMDB)
Glutaryl-CoAMetaboliteCHEBI:15524 (ChEBI)
Glutathione perfsulfide MetaboliteCHEBI:58905 (ChEBI)
Glyceraldehyde 3PMetaboliteHMDB0001112 (HMDB)
GlycineMetaboliteHMDB0000123 (HMDB)
Guanidoacetic acidMetaboliteHMDB00128 (HMDB)
HADHProteinQ16836 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
HK1GeneProduct3098 (Entrez Gene)
HK2GeneProduct3099 (Entrez Gene)
HK3GeneProduct3101 (Entrez Gene)
HLCSGeneProductP50747 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009
HomocysteineMetaboliteHMDB00742 (HMDB)
Hydrogen IonMetaboliteHMDB0059597 (HMDB)
Hydrogen peroxideMetaboliteHMDB03125 (HMDB)
Hydrogen sulfideMetaboliteHMDB03276 (HMDB)
L-Glutamic acidMetaboliteHMDB00148 (HMDB)
L-GlutamineMetaboliteHMDB00641 (HMDB)
L-Pipecolic acidMetaboliteHMDB00716 (HMDB)
L-alanineMetaboliteCHEBI:16977 (ChEBI)
L-arginineMetaboliteCHEBI:29952 (ChEBI)
L-aspartic acidMetaboliteCHEBI:17053 (ChEBI)
L-cystathionineMetaboliteCHEBI:17482 (ChEBI)
L-cysteineMetaboliteCHEBI:17561 (ChEBI)
L-glutamic acidMetaboliteCHEBI:16015 (ChEBI)
L-lysineMetaboliteCHEBI:18019 (ChEBI)
L-lysineMetaboliteCHEBI:29967 (ChEBI)
L-serineMetaboliteCHEBI:33384 (ChEBI)
LDHAGeneProduct3939 (Entrez Gene)
LDHAL6BGeneProduct92483 (Entrez Gene)
LDHBGeneProduct3945 (Entrez Gene)
LDHCGeneProduct3948 (Entrez Gene)
LactateMetaboliteHMDB0000190 (HMDB)
MDH1GeneProduct4190 (Entrez Gene)
MDH2GeneProduct4191 (Entrez Gene)
MOCS1GeneProductENSG00000124615 (Ensembl)
MOCS2GeneProductENSG00000164172 (Ensembl)
MOCS3GeneProductENSG00000124217 (Ensembl)
MPC1GeneProduct51660 (Entrez Gene)
MPC2GeneProduct25874 (Entrez Gene)
MalateMetaboliteHMDB0000744 (HMDB)
MetaboliteMetabolite
MoCoMetaboliteCHEBI:60525 (ChEBI)
Molybdenum cofactor deficiency
NADHMetaboliteCHEBI:16908 (ChEBI)
NADHMetaboliteHMDB01487 (HMDB)
NADMetaboliteHMDB0000902 (HMDB)
NADMetaboliteHMDB00902 (HMDB)
NADPHMetaboliteHMDB0000221 (HMDB)
NADPMetaboliteHMDB0000217 (HMDB)
Non-Ketotic Hyperglycinemia Pathway
OTCGeneProductP00480 (Uniprot-TrEMBL) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000172890
OrnithineMetaboliteHMDB00214 (HMDB)
Orotidylic acidMetaboliteHMDB00218 (HMDB)
OxaloacetateMetaboliteHMDB0000223 (HMDB)
Oxoadipic acidMetaboliteHMDB00225 (HMDB)
Oxoglutaric acidMetaboliteCHEBI:30915 (ChEBI)
Oxoglutaric acidMetaboliteHMDB00208 (HMDB)
OxygenMetaboliteCHEBI:25805 (ChEBI)
P-enolpyruvateMetaboliteHMDB0000263 (HMDB)
PCGeneProduct5091 (Entrez Gene)
PCK1GeneProduct5105 (Entrez Gene)
PDHA1GeneProduct5160 (Entrez Gene)
PFKLGeneProduct5211 (Entrez Gene)
PFKMGeneProduct5213 (Entrez Gene)
PFKPGeneProduct5214 (Entrez Gene)
PGAM1GeneProduct5223 (Entrez Gene)
PGAM2GeneProduct5224 (Entrez Gene)
PGIGeneProduct5.3.1.9 (Enzyme Nomenclature) phosphoglucose isomerase (PGI)
PGK1GeneProduct5230 (Entrez Gene)
PGK2GeneProduct5232 (Entrez Gene)
PHGDHProteinO43175 (Uniprot-TrEMBL)
PKLRGeneProduct5313 (Entrez Gene)
PKM1GeneProduct5315 (Entrez Gene)
PKM2GeneProduct5315 (Entrez Gene)
PSAT1ProteinQ9Y617 (Uniprot-TrEMBL)
PSPHProteinP78330 (Uniprot-TrEMBL)
PhosphateMetaboliteHMDB0002142 (HMDB)
PhosphateMetaboliteHMDB01429 (HMDB)
Phosphohydroxypyruvic acidMetaboliteHMDB01024 (HMDB)
Phosphoric acid MetaboliteHMDB0002142 (HMDB)
PhosphoserineMetaboliteCHEBI:15811 (ChEBI)
Pyridoxal 5'-phosphateMetaboliteHMDB01491 (HMDB)
Pyridoxine dependent epilepsy
PyrophosphateMetaboliteHMDB00250 (HMDB)
PyruvateMetaboliteHMDB0000243 (HMDB)
S-AdenosylhomocysteineMetaboliteHMDB00939 (HMDB)
S-AdenosylmethionineMetaboliteHMDB01185 (HMDB)
SFXN1GeneProductENSG00000164466 (Ensembl) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077
SHMT1GeneProductENSG00000176974 (Ensembl) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077
SHMT2GeneProductENSG00000182199 (Ensembl) HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077
SLC1A5GeneProductQ15758 (Uniprot-TrEMBL)
SLC25A15GeneProductQ9Y619 (Uniprot-TrEMBL)
SLC25A1ProteinP53007 (Uniprot-TrEMBL)
SLC25A5ProteinP05141 (Uniprot-TrEMBL)
SLC2A1GeneProduct6513 (Entrez Gene)
SLC2A2GeneProduct6514 (Entrez Gene)
SLC2A3GeneProduct6515 (Entrez Gene)
SLC2A4GeneProduct6517 (Entrez Gene)
SLC2A5GeneProduct6518 (Entrez Gene)
SLC7A2ProteinP52569 (Uniprot-TrEMBL)
SPCS1GeneProductQ9Y6A9 (Uniprot-TrEMBL)
SQORProteinQ9Y6N5 (Uniprot-TrEMBL)
SUOXProteinP51687 (Uniprot-TrEMBL)
SaccharopineMetaboliteHMDB00279 (HMDB)
Serine deficiency
SulfateMetaboliteHMDB0001448 (HMDB)
TCA CyclePathwayWP78 (WikiPathways)
TPI1GeneProduct7167 (Entrez Gene)
Urea MetaboliteCHEBI:16199 (ChEBI)
Uric acid MetaboliteCHEBI:17775 (ChEBI)
WaterMetaboliteHMDB0002111 (HMDB)
WaterMetaboliteHMDB02111 (HMDB)
XDHProteinP47989 (Uniprot-TrEMBL)
citrateMetaboliteCHEBI:16947 (ChEBI)
hypoxanthineMetaboliteCHEBI:17368 (ChEBI)
sulfiteMetaboliteCHEBI:17359 (ChEBI)
xanthineMetaboliteCHEBI:15318 (ChEBI)
zincMetaboliteCHEBI:27363 (ChEBI)

Annotated Interactions

No annotated interactions

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