NADK: NAD Kinase

Key enzyme in NADP biosynthesis, linking metabolism to cellular redox and signaling

Gene Information Card

Symbol NADK
Full Name NAD Kinase
Gene Type protein-coding
Chromosomal Location 1p36.33
NCBI Gene ID 65220 ncbi.nlm.nih.gov/gene/65220
Ensembl ID ENSG00000142611
UniProt ID O95544
OMIM ID 611636
HGNC ID 29831
Aliases NADK1, dJ283E3.1

Description

NADK encodes NAD kinase, the enzyme that catalyzes the phosphorylation of NAD+ to NADP+ using ATP as a phosphate donor. This reaction is essential for maintaining the cellular NADP+/NADPH pool, which is critical for reductive biosynthesis, antioxidant defense, and signaling. NADK is ubiquitously expressed and its activity is regulated by calcium/calmodulin and cellular energy status.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various) Altered NADK expression affects NADPH levels, influencing redox balance and anabolic pathways in tumor cells. PMID: 25609688; COSMIC overexpression in multiple cancer types
Metabolic syndrome NADK deficiency impairs NADPH production, linked to oxidative stress and insulin resistance. PMID: 23395176
Neurodegeneration Reduced NADK activity compromises neuronal antioxidant capacity, implicated in models of Parkinson's and Alzheimer's disease. PMID: 27511111

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Kidney 10.2 Medium
Heart 8.9 Medium
Brain 6.3 Low
Skeletal Muscle 5.1 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 14.0 High expression
HeLa 11.5 Medium expression
HepG2 10.8 Medium expression
K562 7.2 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense <0.01% Likely loss of start codon; predicted loss of function
c.487C>T (p.Arg163Trp) missense <0.01% Reduced catalytic activity in vitro
c.1042G>A (p.Glu348Lys) missense <0.01% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

Mutations affecting the ATP-binding or catalytic domain (e.g., p.Arg163Trp) reduce NAD kinase activity, impairing NADP+ synthesis.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in NADK.

Dominant Negative (DN)

No evidence of dominant-negative effects for NADK mutations.

Pathways

NAD+ kinase pathway (Reactome: R-HSA-196807)
Nicotinate and nicotinamide metabolism (KEGG: hsa00760)
Metabolic pathways (KEGG: hsa01100)

Protein Summary

NADK is a 49 kDa cytosolic enzyme that phosphorylates NAD+ to NADP+ using ATP. It contains a conserved NAD kinase domain and is regulated by calcium/calmodulin binding. The enzyme is essential for maintaining the NADP+/NADPH pool, supporting reductive biosynthesis and antioxidant defense. NADK is ubiquitously expressed with highest levels in liver and kidney.

Related Products

Product name Cat.No. Species Gene ID
NADK2 Knockout HEK293 Cell Line EDJ-KQ9321 Human 133686 Details Get a Quote
NADK Knockout HEK293 Cell Line EDJ-KQ14363 Human 65220 Details Get a Quote
NADK2 Knockout A-549 Cell Line EDJ-KQ35946 Human 133686 Details Get a Quote
NADK2 Knockout HeLa Cell Line EDJ-KQ35948 Human 133686 Details Get a Quote
NADK Knockout A-549 Cell Line EDJ-KQ44494 Human 65220 Details Get a Quote
NADK Knockout HCT 116 Cell Line EDJ-KQ44495 Human 65220 Details Get a Quote
NADK Knockout HeLa Cell Line EDJ-KQ44496 Human 65220 Details Get a Quote
NADK2 Knockout HCT 116 Cell Line EDJ-KQ34703 Human 133686 Details Get a Quote
Displaying Records 1 To 8 Of 8 Records
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