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ID Database Citation | ||
11875025 Pubmed "The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, et al. Genome Res. 2002 Mar;12(3):379–90. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/11875025"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/11875025"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/11875025"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>" |
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ID Database Citation | ||
hsa00531 KEGG Pathway | ||
27217160 Pubmed "Drugs affecting glycosaminoglycan metabolism. Ghiselli G, Maccarana M. Drug Discov Today. 2016 Jul;21(7):1162–9. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/27217160"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/27217160"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/27217160"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>" |
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ID Database Citation | ||
3061454 Pubmed "Equilibrium of 5,6-hydration of NADH and mechanism of ATP-dependent dehydration. Acheson SA, Kirkman HN, Wolfenden R. Biochemistry. 1988 Sep 20;27(19):7371–5. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/3061454"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/3061454"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/3061454"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>" | ||
30576410 Pubmed "NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, et al. Brain. 2019 Jan 1;142(1):50–8. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/30576410"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/30576410"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/30576410"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>" | ||
31883644 Pubmed "Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, et al. Am J Hum Genet. 2020 Jan 2;106(1):129–36. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/31883644"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/31883644"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/31883644"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>" | ||
35637064 Pubmed "NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, et al. Mol Genet Metab. 2022 Jun;136(2):101–10. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/35637064"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/35637064"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/35637064"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>" |
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Label Type Identifier Comment Ensembl NCBI gene HGNC UniProt Wikidata ChEBI InChI PubChem ChemSpider HMDB KEGG LipidMaps | ||
NAD(+) Metabolite chebi:15846 "" wikidata:Q26987253 chebi:15846 inchikey:BAWFJGJZGIEFAR-NNYOXOHSSA-O pubchem.compound:5893 chemspider:5682 hmdb:HMDB0000902 kegg.compound:C00003 | ||
deamido-NAD(+) Metabolite chebi:18304 "nicotinate adenine dinucleotide" wikidata:Q28529688 chebi:18304 inchikey:SENPVEZBRZQVST-HISDBWNOSA-O pubchem.compound:165491 chemspider:145043 hmdb:HMDB0001179 kegg.compound:C00857 | ||
NADH Metabolite chebi:16908 "" wikidata:Q26987453 chebi:16908 inchikey:BOPGDPNILDQYTO-NNYOXOHSSA-N pubchem.compound:439153 chemspider:903;chemspider:388299 hmdb:HMDB0001487 kegg.compound:C00004 | ||
(S)-NADHX Metabolite chebi:44236 "" wikidata:Q27120544 chebi:44236 inchikey:IDBZKGQRLBFUFQ-VPHRTNKSSA-N pubchem.compound:440516 chemspider:389428 hmdb:HMDB0059644 kegg.compound:C04856 | ||
(R)-NADHX Metabolite chebi:134125 "" wikidata:Q106029801 chebi:134125 inchikey:IDBZKGQRLBFUFQ-MTKBYBFRSA-N pubchem.compound:56927861 kegg.compound:C20482 | ||
cyclo-NADHX Metabolite inchikey:XHATZBPBVXWMQQ-GGFUHNOESA-N "SMILES NC(=O)C1=CN2C(CC1)OC1C2O[C@H](COP(=O)(O)OP(=O)(O)OC[C@H]2O[C@@H](n3cnc4c(N)ncnc43)[C@H](O)[C@@H]2O)[C@H]1O" | ||
nicotamide Metabolite chebi:17154 "nicotinate adenine dinucleotide" wikidata:Q192423 chebi:17154 inchikey:DFPAKSUCGFBDDF-UHFFFAOYSA-N pubchem.compound:936 chemspider:911 hmdb:HMDB0001406 kegg.compound:C00153 | ||
ADP-D-ribose Metabolite chebi:16960 "nicotinate adenine dinucleotide" wikidata:Q61416 chebi:16960 inchikey:SRNWOUGRCWSEMX-TYASJMOZSA-N;inchikey:SRNWOUGRCWSEMX-UHFFFAOYSA-N pubchem.compound:33576;pubchem.compound:192 chemspider:187 hmdb:HMDB0001178 kegg.compound:C00301 | ||
cyclic ADP-D-ribose Metabolite chebi:31445 "nicotinate adenine dinucleotide" wikidata:Q2467043 chebi:31445 inchikey:BQOHYSXSASDCEA-KEOHHSTQSA-N pubchem.compound:123847 chemspider:21403087 kegg.compound:C13050 | ||
NMN(+) Metabolite chebi:14648 "nicotinate mononucleotide" wikidata:Q27108984 chebi:14648 inchikey:DAYLJWODMCOQEW-TURQNECASA-O pubchem.compound:14181 chemspider:13554 hmdb:HMDB0000229 kegg.compound:C00455 | ||
NAD(P)HX epimerase GeneProduct ensembl:ENSG00000163382 "" ensembl:ENSG00000163382 ncbigene:128240 hgnc.symbol:NAXE uniprot:Q5T3I4;uniprot:Q5T3I3;uniprot:A0A7P0Z426;uniprot:A0A7P0TA18;uniprot:A0A7P0TAG8;uniprot:Q8NCW5;uniprot:A0A7P0T9Y2 | ||
NADSYNTHETASE 1 GeneProduct ensembl:ENSG00000172890 "" ensembl:ENSG00000172890 ncbigene:55191 hgnc.symbol:NADSYN1 uniprot:H0YDH3;uniprot:E9PKY6;uniprot:E9PND0;uniprot:H0YCF9;uniprot:Q6IA69;uniprot:E9PNF5;uniprot:H0YCQ6;uniprot:H0YED2;uniprot:A0A0B4J216 | ||
NAD(P)HX DEHYDRATASE GeneProduct ensembl:ENSG00000213995 "" ensembl:ENSG00000213995 ncbigene:55739 hgnc.symbol:NAXD uniprot:A0A7P0T9D8;uniprot:A0A7P0T906;uniprot:A0A7P0TAU0;uniprot:A0A024RDX4;uniprot:Q8IW45;uniprot:A0A7P0T9R3 | ||
CD38 GeneProduct ensembl:ENSG00000004468 "" ensembl:ENSG00000004468 ncbigene:952 hgnc.symbol:CD38 uniprot:P28907;uniprot:H0Y950 | ||
BST GeneProduct ensembl:ENSG00000109743 "" ensembl:ENSG00000109743 ncbigene:683 hgnc.symbol:BST1 uniprot:Q10588;uniprot:H0Y9Q9;uniprot:A6NC48;uniprot:H0Y8G4;uniprot:H0Y984 |
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ID Database Citation | ||
32296576 Pubmed "Metabolic reprogramming in triple-negative breast cancer. Wang Z, Jiang Q, Dong C. Cancer Biol Med. 2020 Feb 15;17(1):44–59. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/32296576"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/32296576"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/32296576"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>" |
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Label Type Identifier Comment Ensembl NCBI gene HGNC UniProt Wikidata ChEBI InChI PubChem ChemSpider HMDB KEGG LipidMaps | ||
H+ Metabolite chebi:24636 "" wikidata:Q2294 chebi:24636 inchikey:GPRLSGONYQIRFK-FTGQXOHASA-N pubchem.compound:5460653 kegg.compound:C00080 | ||
glutamate Metabolite pubchem.compound:33032 "" wikidata:Q26995161 chebi:16015 inchikey:WHUUTDBJXJRKMK-VKHMYHEASA-N pubchem.compound:44272391;pubchem.compound:88747398;pubchem.compound:33032 chemspider:30572 hmdb:HMDB0000148 kegg.compound:C00025 | ||
aspartate Metabolite chebi:29995 "" wikidata:Q27110362 chebi:29995 inchikey:CKLJMWTZIZZHCS-UHFFFAOYSA-L pubchem.compound:4519554 chemspider:3714789 | ||
oxaloacetate Metabolite hmdb:HMDB0000223 "" chebi:30744 inchikey:KHPXUQMNIQBQEV-UHFFFAOYSA-N pubchem.compound:970 chemspider:945 hmdb:HMDB0000223 kegg.compound:C00036 | ||
2-oxoglutarate Metabolite hmdb:HMDB0000208 "" chebi:30915 inchikey:KPGXRSRHYNQIFN-UHFFFAOYSA-N pubchem.compound:51 chemspider:50 hmdb:HMDB0000208 kegg.compound:C00026 | ||
GOT2 GeneProduct ensembl:ENSG00000125166 "" ensembl:ENSG00000125166 ncbigene:2806 hgnc.symbol:GOT2 uniprot:H3BRE7;uniprot:P00505 | ||
SLC25A22 GeneProduct ensembl:ENSG00000177542 "Mitochondrial membrane transporter" ensembl:ENSG00000177542 ncbigene:79751 hgnc.symbol:SLC25A22 uniprot:K4DIB0;uniprot:E9PI74;uniprot:A0A0D9SG84;uniprot:K4DIB4;uniprot:K4DIA2;uniprot:K4DIB3;uniprot:E9PS95;uniprot:K4DIB8;uniprot:A0A0D9SFA8;uniprot:K4DIB6;uniprot:Q9H936;uniprot:A0A0A6YYN8;uniprot:E9PQ36;uniprot:K4DIA8;uniprot:A0A0D9SEI9;uniprot:E9PJH7;uniprot:A0A0D9SFE1;uniprot:E9PJY0 | ||
SLC25A12 GeneProduct ensembl:ENSG00000115840 "Mitochondrial membrane transporter" ensembl:ENSG00000115840 ncbigene:8604 hgnc.symbol:SLC25A12 uniprot:B4DGK6;uniprot:H0YFB2;uniprot:F8W9J0;uniprot:O75746 | ||
SLC25A13 GeneProduct ensembl:ENSG00000004864 "Mitochondrial membrane transporter" ensembl:ENSG00000004864 ncbigene:10165 hgnc.symbol:SLC25A13 uniprot:R4GN64;uniprot:Q9UJS0 | ||
GLUD1 GeneProduct ensembl:ENSG00000148672 "" ensembl:ENSG00000148672 ncbigene:2746 hgnc.symbol:GLUD1 uniprot:A0A804HJD7;uniprot:P00367;uniprot:A0A804HHS2;uniprot:A0A804HIA0;uniprot:A0A804HLC0;uniprot:A0A804HJH3;uniprot:A0A804HHU3;uniprot:A0A804HKE0;uniprot:A0A804HJZ0;uniprot:E9KL48 |
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--- | ||
annotations: | ||
- id: PW:0000013 | ||
parent: disease pathway | ||
type: Pathway Ontology | ||
value: disease pathway | ||
authors: | ||
- Mareknoga | ||
- Egonw | ||
citedin: '' | ||
communities: | ||
- MetaKids | ||
description: 'Disorders of Niacin and NAD Metabolism ' | ||
last-edited: 2024-12-21 | ||
ndex: null | ||
organisms: | ||
- Homo sapiens | ||
redirect_from: | ||
- /index.php/Pathway:WP5506 | ||
- /instance/WP5506 | ||
- /instance/WP5506_r136162 | ||
revision: r136162 | ||
schema-jsonld: | ||
- '@context': https://schema.org/ | ||
'@id': https://wikipathways.github.io/pathways/WP5506.html | ||
'@type': Dataset | ||
creator: | ||
'@type': Organization | ||
name: WikiPathways | ||
description: 'Disorders of Niacin and NAD Metabolism ' | ||
keywords: | ||
- ' ADP-D-ribose' | ||
- ' NMN(+)' | ||
- ' cyclic ADP-D-ribose' | ||
- (R)-NADHX | ||
- (S)-NADHX | ||
- BST | ||
- CD38 | ||
- NAD(+) | ||
- NAD(P)HX DEHYDRATASE | ||
- NAD(P)HX epimerase | ||
- NADH | ||
- NADSYNTHETASE 1 | ||
- cyclo-NADHX | ||
- deamido-NAD(+) | ||
- nicotamide | ||
license: CC0 | ||
name: Disorders of NAD metabolism | ||
seo: CreativeWork | ||
title: Disorders of NAD metabolism | ||
wpid: WP5506 | ||
--- |
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--- | ||
annotations: | ||
- id: PW:0000440 | ||
parent: classic metabolic pathway | ||
type: Pathway Ontology | ||
value: glycine metabolic pathway | ||
- id: PW:0000011 | ||
parent: classic metabolic pathway | ||
type: Pathway Ontology | ||
value: amino acid metabolic pathway | ||
- id: PW:0000013 | ||
parent: disease pathway | ||
type: Pathway Ontology | ||
value: disease pathway | ||
- id: DOID:1612 | ||
parent: disease of cellular proliferation | ||
type: Disease Ontology | ||
value: breast cancer | ||
- id: PW:0001086 | ||
parent: classic metabolic pathway | ||
type: Pathway Ontology | ||
value: glutamine metabolic pathway | ||
- id: DOID:0060081 | ||
parent: disease of cellular proliferation | ||
type: Disease Ontology | ||
value: triple-receptor negative breast cancer | ||
- id: PW:0000605 | ||
parent: disease pathway | ||
type: Pathway Ontology | ||
value: cancer pathway | ||
- id: PW:0001084 | ||
parent: classic metabolic pathway | ||
type: Pathway Ontology | ||
value: serine metabolic pathway | ||
- id: DOID:9252 | ||
parent: genetic disease | ||
type: Disease Ontology | ||
value: amino acid metabolic disorder | ||
authors: | ||
- Daanvanbeek | ||
citedin: '' | ||
communities: | ||
- MetaKids | ||
description: Reflecting the pathway as shown in Figure 43.2 of Blau et al. "Physician’s | ||
guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases" | ||
last-edited: 2024-12-21 | ||
ndex: null | ||
organisms: | ||
- Homo sapiens | ||
redirect_from: | ||
- /index.php/Pathway:WP5507 | ||
- /instance/WP5507 | ||
- /instance/WP5507_r136142 | ||
revision: r136142 | ||
schema-jsonld: | ||
- '@context': https://schema.org/ | ||
'@id': https://wikipathways.github.io/pathways/WP5507.html | ||
'@type': Dataset | ||
creator: | ||
'@type': Organization | ||
name: WikiPathways | ||
description: Reflecting the pathway as shown in Figure 43.2 of Blau et al. "Physician’s | ||
guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases" | ||
keywords: | ||
- 2-oxoglutarate | ||
- GLUD1 | ||
- GOT2 | ||
- H+ | ||
- SLC25A12 | ||
- SLC25A13 | ||
- SLC25A22 | ||
- aspartate | ||
- glutamate | ||
- oxaloacetate | ||
license: CC0 | ||
name: Mitochondrial carrier deficiency associated with shuttle disturbances | ||
seo: CreativeWork | ||
title: Mitochondrial carrier deficiency associated with shuttle disturbances | ||
wpid: WP5507 | ||
--- |
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