Disorders of NAD metabolism (Homo sapiens)

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Description

Quality Tags

Ontology Terms

Bibliography

1. Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SH; ''NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.''; Mol Genet Metab, 2022 PubMed Europe PMC Scholia
2. Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H; ''NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.''; Brain, 2019 PubMed Europe PMC Scholia
3. Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL; ''Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.''; Am J Hum Genet, 2020 PubMed Europe PMC Scholia
4. Nenad Blau, Carlo Dionisi Vici, Carlos R. Ferreira, Christine Vianey-Saban, Clara D. M. van Karnebeek; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; , 2022 PubMed Europe PMC Scholia
5. Acheson SA, Kirkman HN, Wolfenden R; ''Equilibrium of 5,6-hydration of NADH and mechanism of ATP-dependent dehydration.''; Biochemistry, 1988 PubMed Europe PMC Scholia

History

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Compare	Revision	Action	Time	User	Comment
	136162	view	16:49, 20 December 2024	Mareknoga	Fixing some of the missing annotations
	136155	view	14:21, 20 December 2024	Mareknoga	pushing unsaved changes
	136143	view	16:40, 19 December 2024	Mareknoga	started working on the NAD consumption and salvage
	136124	view	14:13, 19 December 2024	Mareknoga	NADSYN added
	136122	view	13:20, 19 December 2024	Mareknoga	Update structures and literature
	136119	view	12:35, 19 December 2024	Egonw	Ontology Term : 'disease pathway' added !
	136118	view	12:20, 19 December 2024	Mareknoga	Modified title
	136117	view	12:14, 19 December 2024	Mareknoga	New pathway

External references

DataNodes

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Name	Type	Database reference	Comment
ADP-D-ribose	Metabolite	CHEBI:16960 (ChEBI)	nicotinate adenine dinucleotide
NMN(+)	Metabolite	CHEBI:14648 (ChEBI)	nicotinate mononucleotide
cyclic ADP-D-ribose	Metabolite	CHEBI:31445 (ChEBI)	nicotinate adenine dinucleotide
(R)-NADHX	Metabolite	CHEBI:134125 (ChEBI)
(S)-NADHX	Metabolite	CHEBI:44236 (ChEBI)
BST	GeneProduct	ENSG00000109743 (Ensembl)
CD38	GeneProduct	ENSG00000004468 (Ensembl)
NAD SYNTHETASE 1	GeneProduct	ENSG00000172890 (Ensembl)
NAD(+)	Metabolite	CHEBI:15846 (ChEBI)
NAD(P)HX DEHYDRATASE	GeneProduct	ENSG00000213995 (Ensembl)
NAD(P)HX epimerase	GeneProduct	ENSG00000163382 (Ensembl)
NADH	Metabolite	CHEBI:16908 (ChEBI)
cyclo-NADHX	Metabolite	XHATZBPBVXWMQQ-GGFUHNOESA-N (InChIKey)	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
deamido-NAD(+)	Metabolite	CHEBI:18304 (ChEBI)	nicotinate adenine dinucleotide
nicotamide	Metabolite	CHEBI:17154 (ChEBI)	nicotinate adenine dinucleotide

Annotated Interactions

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Source	Target	Type	Database reference	Comment
cyclic ADP-D-ribose	ADP-D-ribose	mim-conversion	38615 (Rhea)
(R)-NADHX	(S)-NADHX	mim-conversion	32215 (Rhea)	Reversible
(S)-NADHX	NADH	mim-conversion	19017 (Rhea)	Eukaryotic NAXD is ATP-dependent (Rhea:19017) while prokaryotic homolog is ADP-dependent (Rhea:32223)
NAD SYNTHETASE 1		mim-catalysis	RHEA:24385 (Rhea)
NAD(+)	nicotamide	mim-conversion	38611 (Rhea)
NADH	(S)-NADHX	mim-conversion	57364 (Rhea)
deamido-NAD(+)	NAD(+)	mim-conversion	24385 (Rhea)