Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	349565
Gene name	Nicotinamide nucleotide adenylyltransferase 3
Gene symbol	NMNAT3
Synonyms (NCBI Gene)	FKSG76PNAT-3PNAT3
Chromosome	3
Chromosome location	3q23
Summary	This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucl

Show/Hide all (38)

miRTarBase ID	miRNA	Experiments
MIRT1187836	hsa-miR-4269	CLIP-seq
MIRT1187837	hsa-miR-4514	CLIP-seq
MIRT1187838	hsa-miR-4692	CLIP-seq
MIRT1187839	hsa-miR-4742-5p	CLIP-seq
MIRT1187840	hsa-miR-4777-3p	CLIP-seq
MIRT2054420	hsa-miR-188-5p	CLIP-seq
MIRT2054421	hsa-miR-1183	CLIP-seq
MIRT2054422	hsa-miR-1208	CLIP-seq
MIRT2054423	hsa-miR-34b	CLIP-seq
MIRT2283496	hsa-miR-1185	CLIP-seq
MIRT2283497	hsa-miR-1224-5p	CLIP-seq
MIRT2283498	hsa-miR-1277	CLIP-seq
MIRT2283499	hsa-miR-34c-3p	CLIP-seq
MIRT2283500	hsa-miR-3605-5p	CLIP-seq
MIRT2283501	hsa-miR-3679-5p	CLIP-seq
MIRT2283502	hsa-miR-3915	CLIP-seq
MIRT2283503	hsa-miR-3973	CLIP-seq
MIRT2283504	hsa-miR-4689	CLIP-seq
MIRT2283505	hsa-miR-548a-5p	CLIP-seq
MIRT2283506	hsa-miR-548ab	CLIP-seq
MIRT2283507	hsa-miR-548ak	CLIP-seq
MIRT2283508	hsa-miR-548b-5p	CLIP-seq
MIRT2283509	hsa-miR-548c-5p	CLIP-seq
MIRT2283510	hsa-miR-548d-5p	CLIP-seq
MIRT2283511	hsa-miR-548h	CLIP-seq
MIRT2283512	hsa-miR-548i	CLIP-seq
MIRT2283513	hsa-miR-548j	CLIP-seq
MIRT2283514	hsa-miR-548w	CLIP-seq
MIRT2283515	hsa-miR-548y	CLIP-seq
MIRT2283516	hsa-miR-559	CLIP-seq
MIRT2431614	hsa-miR-198	CLIP-seq
MIRT2431615	hsa-miR-338-3p	CLIP-seq
MIRT2431616	hsa-miR-3684	CLIP-seq
MIRT2431617	hsa-miR-411	CLIP-seq
MIRT2431618	hsa-miR-4530	CLIP-seq
MIRT2431619	hsa-miR-4660	CLIP-seq
MIRT2431620	hsa-miR-562	CLIP-seq
MIRT2431621	hsa-miR-646	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000309	Function	Nicotinamide-nucleotide adenylyltransferase activity	IBA
GO:0000309	Function	Nicotinamide-nucleotide adenylyltransferase activity	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004515	Function	Nicotinate-nucleotide adenylyltransferase activity	IBA
GO:0004515	Function	Nicotinate-nucleotide adenylyltransferase activity	IDA	16118205
GO:0004515	Function	Nicotinate-nucleotide adenylyltransferase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	16118205
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006769	Process	Nicotinamide metabolic process	IEA
GO:0009165	Process	Nucleotide biosynthetic process	IC	16118205
GO:0009165	Process	Nucleotide biosynthetic process	IEA
GO:0009435	Process	NAD+ biosynthetic process	IBA
GO:0009435	Process	NAD+ biosynthetic process	IEA
GO:0009435	Process	NAD+ biosynthetic process	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0019363	Process	Pyridine nucleotide biosynthetic process	IEA
GO:0030424	Component	Axon	IEA
GO:0034355	Process	NAD+ biosynthetic process via the salvage pathway	IEA
GO:0034612	Process	Response to tumor necrosis factor	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0070566	Function	Adenylyltransferase activity	IEA

MIM	HGNC	e!Ensembl
608702	20989	ENSG00000163864

Q96T66

Protein name

Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 (NMN/NaMN adenylyltransferase 3) (Nicotinamide-nucleotide adenylyltransferase 3) (NMN adenylyltransferase 3) (Nicotinate-nucleotide adenylyltransferase 3) (NaMN adenylyltransferase 3) (EC 2.

Protein function

Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:16118205, PubMed:17402747, PubMed:26616331). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. C

PDB

1NUP , 1NUQ , 1NUR , 1NUS , 1NUT , 1NUU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01467	CTP_transf_like	10 → 208	Cytidylyltransferase-like	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in lung and spleen with lower levels in placenta and kidney. {ECO:0000269|PubMed:12574164, ECO:0000269|PubMed:16118205}.

Sequence

MKSRIPVVLLACGSFNPITNMHLRMFEVARDHLHQTGMYQVIQGIISPVNDTYGKKDLAA
SHHRVAMARLALQTSDWIRVDPWESEQAQWMETVKVLRHHHSKLLRSPPQMEGPDHGKAL
FSTPAAVPELKLLCGADVLKTFQTPNLWKDAHIQEIVEKFGLVCVGRVGHDPKGYIAESP
ILRMHQHNIHLAKEPVQNEISATYIRRALGQGQSVKYLIPDAVITYIKDHGLYTKGSTWK
GKSTQSTEGKTS

Sequence length

252

Interactions

View interactions

	KEGG		Reactome
	Nicotinate and nicotinamide metabolism Metabolic pathways Biosynthesis of cofactors		Nicotinate metabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	31730022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Hypoxia-Ischemia	Cerebral Hypoxia-Ischemia	BEFREE	29046881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36809279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	29046881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	31103287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29901258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35397003	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31730022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★★★★★ ★☆☆☆☆ Found in Text Mining only

NMNAT3 (nicotinamide nucleotide adenylyltransferase 3)