Metabolic epileptic disorders (Homo sapiens)
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- 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
- 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
- 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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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
(R)-Lipoic acid | Metabolite | HMDB01451 (HMDB) | |
(S)-2,3,4,5-tetrahydropyridine -2-carboxylic acid | Metabolite | CHEBI:49014 (ChEBI) | |
1,3BP-Glycerate | Metabolite | HMDB0001270 (HMDB) | |
2-Ketobutyric acid | Metabolite | HMDB00005 (HMDB) | |
2-oxoglutarate | Metabolite | CHEBI:16810 (ChEBI) | |
2P-Glycerate | Metabolite | HMDB0000362 (HMDB) | |
3-Hydroxybutyryl-CoA | Metabolite | HMDB01166 (HMDB) | |
3-Sulfinylpyruvic acid | Metabolite | HMDB01405 (HMDB) | |
3P-Glycerate | Metabolite | HMDB0000807 (HMDB) | |
5,10-Methylene-THF | Metabolite | HMDB01533 (HMDB) | |
8-[(Aminomethyl)sulfanyl]-6- sulfanyloctanoic acid | Metabolite | HMDB13639 (HMDB) | |
AADAT | Protein | Q8N5Z0 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
AASS | GeneProduct | A4D0W4 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
ACAT1 | Protein | P24752 (Uniprot-TrEMBL) | |
ACO1 | Protein | P21399 (Uniprot-TrEMBL) | glucose-6-phosphate isomerase |
ADP | Metabolite | HMDB0001341 (HMDB) | |
ALDH7A1 | GeneProduct | ENSG00000164904 (Ensembl) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
ALDOA | GeneProduct | 226 (Entrez Gene) | |
ALDOB | GeneProduct | 229 (Entrez Gene) | |
ALDOC | GeneProduct | 230 (Entrez Gene) | |
AMP | Metabolite | HMDB0000045 (HMDB) | |
AMT | GeneProduct | 275 (Entrez Gene) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
ARG1 | GeneProduct | P05089 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
ASL | GeneProduct | P04424 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
ASS1 | GeneProduct | P00966 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
ATP | Metabolite | CHEBI:30616 (ChEBI) | |
ATP | Metabolite | HMDB0000538 (HMDB) | |
Acetoacetyl-CoA | Metabolite | HMDB01484 (HMDB) | |
Acetyl-CoA | Metabolite | HMDB0001206 (HMDB) | |
Allysine | Metabolite | HMDB01263 (HMDB) | |
Aminoadipic acid | Metabolite | HMDB00510 (HMDB) | |
Ammonia | Metabolite | HMDB00051 (HMDB) | |
Argininosuccinic acid | Metabolite | HMDB00052 (HMDB) | |
Aspartate | Metabolite | HMDB0000191 (HMDB) | |
Biocytin | Metabolite | HMDB0003134 (HMDB) | |
Biotin carboxyl carrier protein | Protein | Q42533 (Uniprot-TrEMBL) | |
Biotin | Metabolite | HMDB00030 (HMDB) | |
Biotinidase deficiency | Pathway | ||
Biotinidase | Protein | P43251 (Uniprot-TrEMBL) | |
Biotinyl-5'-AMP | Metabolite | HMDB04220 (HMDB) | |
CBS | Protein | P35520 (Uniprot-TrEMBL) | |
CDO1 | Protein | Q16878 (Uniprot-TrEMBL) | |
CPS1 | GeneProduct | P31327 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
CTH | Protein | P32929 (Uniprot-TrEMBL) | |
Carbamoyl phosphate | Metabolite | HMDB01096 (HMDB) | |
Carbon dioxide | Metabolite | HMDB01967 (HMDB) | |
Citrate Transporter Disorder | |||
Citrulline | Metabolite | HMDB00904 (HMDB) | |
Citrullinemia Type I | |||
Coenzyme A | Metabolite | HMDB01423 (HMDB) | |
Creatine Deficiency | |||
Creatine | Metabolite | CHEBI:16919 (ChEBI) | |
Crotonoyl-CoA | Metabolite | CHEBI:15473 (ChEBI) | |
Cysteine sulfinic acid | Metabolite | HMDB0250705 (HMDB) | |
Cysteine | Metabolite | CHEBI:15356 (ChEBI) | |
DHTKD1 | Protein | H7C1J3 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
DLAT | GeneProduct | 1737 (Entrez Gene) | |
DLD | GeneProduct | 1738 (Entrez Gene) | |
Dihydrolipoate | Metabolite | HMDB12210 (HMDB) | |
Dihydroxyacetone-P | Metabolite | HMDB0001473 (HMDB) | |
ECHS1 | Protein | P30084 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
ENO1 | GeneProduct | 2023 (Entrez Gene) | |
ENO2 | GeneProduct | 2026 (Entrez Gene) | |
ENO3 | GeneProduct | 2027 (Entrez Gene) | |
ETHE1 | Protein | O95571 (Uniprot-TrEMBL) | |
FAD | Metabolite | CHEBI:16238 (ChEBI) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000103485 |
FBP1 | GeneProduct | 2203 (Entrez Gene) | |
FBP2 | GeneProduct | 8789 (Entrez Gene) | |
Fructose 6P (open) | Metabolite | CHEBI:57579 (ChEBI) | fructose-6-phosphate (2-) open form |
Fructose 6P | Metabolite | CHEBI:61527 (ChEBI) | |
Fructose-1,6BP | Metabolite | HMDB0001058 (HMDB) | |
Fumaric acid | Metabolite | HMDB00134 (HMDB) | |
G6PC | GeneProduct | 2538 (Entrez Gene) | Not present in brain and muscle, so those organs can not produce their own glucose in the gluconeogenesis pathway |
GAMT | GeneProduct | Q14353 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
GAPDH | GeneProduct | ENSG00000111640 (Ensembl) | |
GCDH | Protein | Q92947 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
GCK | GeneProduct | 2645 (Entrez Gene) | Gck is mainly active in liver |
GLDC | GeneProduct | 2731 (Entrez Gene) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000151790 |
GLDC | GeneProduct | P23378 (Uniprot-TrEMBL) | |
GLS2 | GeneProduct | Q9UI32 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
GLUD1 | GeneProduct | P00367 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000172890 |
GLUT1 deficiency syndrome | |||
GOT1 | GeneProduct | 2805 (Entrez Gene) | |
GOT2 | GeneProduct | 2806 (Entrez Gene) | |
GPHN | GeneProduct | ENSG00000171723 (Ensembl) | |
GPI | GeneProduct | 2821 (Entrez Gene) | glucose-6-phosphate isomerase |
GPT | Protein | P24298 (Uniprot-TrEMBL) | |
GTP | Metabolite | CHEBI:37565 (ChEBI) | |
Glucose-6P (open) | Metabolite | CHEBI:57584 (ChEBI) | D-Glucose-6-Phosphate (2-) open form |
Glucose-6P | Metabolite | CHEBI:75052 (ChEBI) | Glucose-6-Phosphate (2-) |
Glucose | Metabolite | HMDB0000122 (HMDB) | |
Glutaryl-CoA | Metabolite | CHEBI:15524 (ChEBI) | |
Glutathione perfsulfide | Metabolite | CHEBI:58905 (ChEBI) | |
Glyceraldehyde 3P | Metabolite | HMDB0001112 (HMDB) | |
Glycine | Metabolite | HMDB0000123 (HMDB) | |
Guanidoacetic acid | Metabolite | HMDB00128 (HMDB) | |
HADH | Protein | Q16836 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
HK1 | GeneProduct | 3098 (Entrez Gene) | |
HK2 | GeneProduct | 3099 (Entrez Gene) | |
HK3 | GeneProduct | 3101 (Entrez Gene) | |
HLCS | GeneProduct | P50747 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000117009 |
Homocysteine | Metabolite | HMDB00742 (HMDB) | |
Hydrogen Ion | Metabolite | HMDB0059597 (HMDB) | |
Hydrogen peroxide | Metabolite | HMDB03125 (HMDB) | |
Hydrogen sulfide | Metabolite | HMDB03276 (HMDB) | |
L-Glutamic acid | Metabolite | HMDB00148 (HMDB) | |
L-Glutamine | Metabolite | HMDB00641 (HMDB) | |
L-Pipecolic acid | Metabolite | HMDB00716 (HMDB) | |
L-alanine | Metabolite | CHEBI:16977 (ChEBI) | |
L-arginine | Metabolite | CHEBI:29952 (ChEBI) | |
L-aspartic acid | Metabolite | CHEBI:17053 (ChEBI) | |
L-cystathionine | Metabolite | CHEBI:17482 (ChEBI) | |
L-cysteine | Metabolite | CHEBI:17561 (ChEBI) | |
L-glutamic acid | Metabolite | CHEBI:16015 (ChEBI) | |
L-lysine | Metabolite | CHEBI:18019 (ChEBI) | |
L-lysine | Metabolite | CHEBI:29967 (ChEBI) | |
L-serine | Metabolite | CHEBI:33384 (ChEBI) | |
LDHA | GeneProduct | 3939 (Entrez Gene) | |
LDHAL6B | GeneProduct | 92483 (Entrez Gene) | |
LDHB | GeneProduct | 3945 (Entrez Gene) | |
LDHC | GeneProduct | 3948 (Entrez Gene) | |
Lactate | Metabolite | HMDB0000190 (HMDB) | |
MDH1 | GeneProduct | 4190 (Entrez Gene) | |
MDH2 | GeneProduct | 4191 (Entrez Gene) | |
MOCS1 | GeneProduct | ENSG00000124615 (Ensembl) | |
MOCS2 | GeneProduct | ENSG00000164172 (Ensembl) | |
MOCS3 | GeneProduct | ENSG00000124217 (Ensembl) | |
MPC1 | GeneProduct | 51660 (Entrez Gene) | |
MPC2 | GeneProduct | 25874 (Entrez Gene) | |
Malate | Metabolite | HMDB0000744 (HMDB) | |
Metabolite | Metabolite | ||
MoCo | Metabolite | CHEBI:60525 (ChEBI) | |
Molybdenum cofactor deficiency | |||
NADH | Metabolite | CHEBI:16908 (ChEBI) | |
NADH | Metabolite | HMDB01487 (HMDB) | |
NAD | Metabolite | HMDB0000902 (HMDB) | |
NAD | Metabolite | HMDB00902 (HMDB) | |
NADPH | Metabolite | HMDB0000221 (HMDB) | |
NADP | Metabolite | HMDB0000217 (HMDB) | |
Non-Ketotic Hyperglycinemia | Pathway | ||
OTC | GeneProduct | P00480 (Uniprot-TrEMBL) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000172890 |
Ornithine | Metabolite | HMDB00214 (HMDB) | |
Orotidylic acid | Metabolite | HMDB00218 (HMDB) | |
Oxaloacetate | Metabolite | HMDB0000223 (HMDB) | |
Oxoadipic acid | Metabolite | HMDB00225 (HMDB) | |
Oxoglutaric acid | Metabolite | CHEBI:30915 (ChEBI) | |
Oxoglutaric acid | Metabolite | HMDB00208 (HMDB) | |
Oxygen | Metabolite | CHEBI:25805 (ChEBI) | |
P-enolpyruvate | Metabolite | HMDB0000263 (HMDB) | |
PC | GeneProduct | 5091 (Entrez Gene) | |
PCK1 | GeneProduct | 5105 (Entrez Gene) | |
PDHA1 | GeneProduct | 5160 (Entrez Gene) | |
PFKL | GeneProduct | 5211 (Entrez Gene) | |
PFKM | GeneProduct | 5213 (Entrez Gene) | |
PFKP | GeneProduct | 5214 (Entrez Gene) | |
PGAM1 | GeneProduct | 5223 (Entrez Gene) | |
PGAM2 | GeneProduct | 5224 (Entrez Gene) | |
PGI | GeneProduct | 5.3.1.9 (Enzyme Nomenclature) | phosphoglucose isomerase (PGI) |
PGK1 | GeneProduct | 5230 (Entrez Gene) | |
PGK2 | GeneProduct | 5232 (Entrez Gene) | |
PHGDH | Protein | O43175 (Uniprot-TrEMBL) | |
PKLR | GeneProduct | 5313 (Entrez Gene) | |
PKM1 | GeneProduct | 5315 (Entrez Gene) | |
PKM2 | GeneProduct | 5315 (Entrez Gene) | |
PSAT1 | Protein | Q9Y617 (Uniprot-TrEMBL) | |
PSPH | Protein | P78330 (Uniprot-TrEMBL) | |
Phosphate | Metabolite | HMDB0002142 (HMDB) | |
Phosphate | Metabolite | HMDB01429 (HMDB) | |
Phosphohydroxypyruvic acid | Metabolite | HMDB01024 (HMDB) | |
Phosphoric acid | Metabolite | HMDB0002142 (HMDB) | |
Phosphoserine | Metabolite | CHEBI:15811 (ChEBI) | |
Pyridoxal 5'-phosphate | Metabolite | HMDB01491 (HMDB) | |
Pyridoxine dependent epilepsy | |||
Pyrophosphate | Metabolite | HMDB00250 (HMDB) | |
Pyruvate | Metabolite | HMDB0000243 (HMDB) | |
S-Adenosylhomocysteine | Metabolite | HMDB00939 (HMDB) | |
S-Adenosylmethionine | Metabolite | HMDB01185 (HMDB) | |
SFXN1 | GeneProduct | ENSG00000164466 (Ensembl) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
SHMT1 | GeneProduct | ENSG00000176974 (Ensembl) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
SHMT2 | GeneProduct | ENSG00000182199 (Ensembl) | HomologyConvert: Homo sapiens to Bos taurus: Original ID = En:ENSG00000183077 |
SLC1A5 | GeneProduct | Q15758 (Uniprot-TrEMBL) | |
SLC25A15 | GeneProduct | Q9Y619 (Uniprot-TrEMBL) | |
SLC25A1 | Protein | P53007 (Uniprot-TrEMBL) | |
SLC25A5 | Protein | P05141 (Uniprot-TrEMBL) | |
SLC2A1 | GeneProduct | 6513 (Entrez Gene) | |
SLC2A2 | GeneProduct | 6514 (Entrez Gene) | |
SLC2A3 | GeneProduct | 6515 (Entrez Gene) | |
SLC2A4 | GeneProduct | 6517 (Entrez Gene) | |
SLC2A5 | GeneProduct | 6518 (Entrez Gene) | |
SLC7A2 | Protein | P52569 (Uniprot-TrEMBL) | |
SPCS1 | GeneProduct | Q9Y6A9 (Uniprot-TrEMBL) | |
SQOR | Protein | Q9Y6N5 (Uniprot-TrEMBL) | |
SUOX | Protein | P51687 (Uniprot-TrEMBL) | |
Saccharopine | Metabolite | HMDB00279 (HMDB) | |
Serine deficiency | |||
Sulfate | Metabolite | HMDB0001448 (HMDB) | |
TCA Cycle | Pathway | WP78 (WikiPathways) | |
TPI1 | GeneProduct | 7167 (Entrez Gene) | |
Urea | Metabolite | CHEBI:16199 (ChEBI) | |
Uric acid | Metabolite | CHEBI:17775 (ChEBI) | |
Water | Metabolite | HMDB0002111 (HMDB) | |
Water | Metabolite | HMDB02111 (HMDB) | |
XDH | Protein | P47989 (Uniprot-TrEMBL) | |
citrate | Metabolite | CHEBI:16947 (ChEBI) | |
hypoxanthine | Metabolite | CHEBI:17368 (ChEBI) | |
sulfite | Metabolite | CHEBI:17359 (ChEBI) | |
xanthine | Metabolite | CHEBI:15318 (ChEBI) | |
zinc | Metabolite | CHEBI:27363 (ChEBI) |
Annotated Interactions
No annotated interactions