NADK
gene geneOn this page
Also known as FLJ13052NADK1
Summary
NADK (NAD kinase, HGNC:29831) is a protein-coding gene on chromosome 1p36.33, encoding NAD kinase (O95544).
NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).
Source: NCBI Gene 65220 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 97 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_023018
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29831 |
| Approved symbol | NADK |
| Name | NAD kinase |
| Location | 1p36.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13052, NADK1 |
| Ensembl gene | ENSG00000008130 |
| Ensembl biotype | protein_coding |
| OMIM | 611616 |
| Entrez | 65220 |
Gene structure
Transcript identifiers
Ensembl transcripts: 42 — 30 protein_coding, 7 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000341426, ENST00000341991, ENST00000342348, ENST00000378625, ENST00000460602, ENST00000464373, ENST00000469045, ENST00000477235, ENST00000480499, ENST00000480542, ENST00000489538, ENST00000492768, ENST00000492845, ENST00000497186, ENST00000497615, ENST00000497747, ENST00000498806, ENST00000886130, ENST00000886131, ENST00000886132, ENST00000886133, ENST00000886134, ENST00000886135, ENST00000886136, ENST00000886137, ENST00000886138, ENST00000886139, ENST00000886140, ENST00000886141, ENST00000886142, ENST00000886143, ENST00000886144, ENST00000931657, ENST00000931658, ENST00000931659, ENST00000931660, ENST00000931661, ENST00000931662, ENST00000931663, ENST00000953973, ENST00000953974, ENST00000953975
RefSeq mRNA: 6 — MANE Select: NM_023018
NM_001198993, NM_001198994, NM_001198995, NM_001353641, NM_001353642, NM_023018
CCDS: CCDS30565, CCDS55561, CCDS55562
Canonical transcript exons
ENST00000341426 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001425950 | 1751232 | 1753060 |
| ENSE00001430349 | 1778289 | 1778470 |
| ENSE00001704992 | 1754051 | 1754208 |
| ENSE00003487616 | 1761952 | 1762035 |
| ENSE00003498213 | 1755374 | 1755476 |
| ENSE00003514689 | 1754544 | 1754698 |
| ENSE00003520839 | 1753567 | 1753649 |
| ENSE00003537469 | 1756503 | 1756608 |
| ENSE00003541571 | 1765228 | 1765446 |
| ENSE00003606510 | 1757181 | 1757310 |
| ENSE00003692625 | 1756258 | 1756343 |
| ENSE00003693808 | 1754284 | 1754383 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 98.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.1476 / max 1141.6646, expressed in 1820 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 9824 | 19.7582 | 1778 |
| 9829 | 8.6737 | 392 |
| 9828 | 5.8582 | 287 |
| 9827 | 1.1216 | 180 |
| 9825 | 0.6607 | 299 |
| 9832 | 0.4900 | 195 |
| 9831 | 0.1386 | 70 |
| 9826 | 0.1145 | 59 |
| 9821 | 0.1088 | 76 |
| 9822 | 0.0875 | 55 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 98.90 | gold quality |
| granulocyte | CL:0000094 | 98.65 | gold quality |
| monocyte | CL:0000576 | 98.42 | gold quality |
| mononuclear cell | CL:0000842 | 98.38 | gold quality |
| leukocyte | CL:0000738 | 98.35 | gold quality |
| spleen | UBERON:0002106 | 98.00 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.96 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.66 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.66 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.60 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.59 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.54 | gold quality |
| adrenal gland | UBERON:0002369 | 97.04 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.02 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.71 | gold quality |
| transverse colon | UBERON:0001157 | 96.50 | gold quality |
| omental fat pad | UBERON:0010414 | 96.35 | gold quality |
| peritoneum | UBERON:0002358 | 96.33 | gold quality |
| body of stomach | UBERON:0001161 | 96.26 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.20 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.14 | gold quality |
| pancreatic ductal cell | CL:0002079 | 96.00 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.96 | gold quality |
| left coronary artery | UBERON:0001626 | 95.95 | gold quality |
| left uterine tube | UBERON:0001303 | 95.91 | gold quality |
| right coronary artery | UBERON:0001625 | 95.91 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.87 | gold quality |
| lower esophagus | UBERON:0013473 | 95.85 | gold quality |
| left ovary | UBERON:0002119 | 95.75 | gold quality |
| coronary artery | UBERON:0001621 | 95.73 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.46 |
| E-MTAB-9801 | yes | 9.15 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
64 targeting NADK, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
Literature-anchored findings (GeneRIF, showing 9)
- NAD kinase levels control the NADPH concentration in human cells (PMID:17855339)
- Using purified human NAD kinase, we revealed a sigmoidal kinetic behavior toward ATP and the inhibitory effects of NADPH and NADH (PMID:21526340)
- Taken together, this indicates that Ser-188 (and perhaps the other residues) is an important phosphorylation site that can downregulate the NAD kinase activity of this critical enzyme. (PMID:26577408)
- Depletion of wild-type NADK in pancreatic ductal adenocarcinoma cells attenuates cancer cell growth. (PMID:26806015)
- Data indicate metabolic enzymes NAD kinase and ketohexokinase as candidate metabolic gene targets, and the chromatin remodeling protein INO80C as a tumor suppressor in KRAS(MUT) colorectal tumor xenograft. (PMID:28954733)
- These data indicate that Akt-mediated phosphorylation of NADK stimulates its activity to increase NADP(+) production through relief of an autoinhibitory function inherent to its amino terminus. (PMID:30846598)
- NADK is activated by oncogenic signaling to sustain pancreatic ductal adenocarcinoma. (PMID:34133937)
- G-protein-coupled estrogen receptor 1 promotes peritoneal metastasis of gastric cancer through nicotinamide adenine dinucleotide kinase 1-mediated redox modulation. (PMID:38315451)
- Knockdown of NADK promotes LUAD ferroptosis via NADPH/FSP1 axis. (PMID:38700533)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000006577 | |
| danio_rerio | nadka | ENSDARG00000098313 |
| mus_musculus | Nadk | ENSMUSG00000029063 |
| rattus_norvegicus | Nadk | ENSRNOG00000016936 |
| drosophila_melanogaster | Nadk1a | FBGN0033853 |
| drosophila_melanogaster | Nadk1b | FBGN0053156 |
Protein
Protein identifiers
NAD kinase — O95544 (reviewed: O95544)
Alternative names: Poly(P)/ATP NAD kinase
All UniProt accessions (6): O95544, A0A0A0MR98, J3KSP9, J3KTI3, J3QR86, J3QRC0
UniProt curated annotations — full annotation on UniProt →
Tissue specificity. Widely expressed but not detected in skeletal muscle.
Similarity. Belongs to the NAD kinase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95544-1 | 1 | yes |
| O95544-2 | 2 | |
| O95544-3 | 3 |
RefSeq proteins (6): NP_001185922, NP_001185923, NP_001185924, NP_001340570, NP_001340571, NP_075394* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002504 | NADK | Family |
| IPR016064 | NAD/diacylglycerol_kinase_sf | Homologous_superfamily |
| IPR017437 | ATP-NAD_kinase_PpnK-typ_C | Homologous_superfamily |
| IPR017438 | ATP-NAD_kinase_N | Homologous_superfamily |
Pfam: PF01513, PF20143
Enzyme classification (BRENDA):
- EC 2.7.1.23 — NAD+ kinase (BRENDA: 57 organisms, 133 substrates, 131 inhibitors, 140 Km, 41 kcat entries)
Substrate kinetics (BRENDA)
21 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ATP | 0.032–4.5 | 55 |
| NAD+ | 0.022–6.5 | 55 |
| POLYPHOSPHATE | 2.2–2.7 | 4 |
| GTP | 0.2–2.86 | 3 |
| NADH | 0.042–2 | 3 |
| NADP+ | 0.18–1.01 | 3 |
| POLY(P)4 | 0.21–0.33 | 2 |
| ADP | 4.3 | 1 |
| CTP | 0.59 | 1 |
| FRUCTOSE-1,6-BISPHOSPHATE | 0.43 | 1 |
| ITP | 1.54 | 1 |
| NADPH | 0.3 | 1 |
| POLYPHOSPHATE(20) | 5.9 | 1 |
| POLYPHOSPHATE(25) | 17.2 | 1 |
| POLYPHOSPHATE(45) | 14.1 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- NAD(+) + ATP = ADP + NADP(+) + H(+) (RHEA:18629)
UniProt features (54 total): strand 23, helix 10, turn 8, modified residue 5, sequence conflict 3, splice variant 3, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9CRA | ELECTRON MICROSCOPY | 2.34 |
| 8KGC | ELECTRON MICROSCOPY | 2.54 |
| 3PFN | X-RAY DIFFRACTION | 2.7 |
| 9CR4 | ELECTRON MICROSCOPY | 2.81 |
| 9CR3 | ELECTRON MICROSCOPY | 3.18 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95544-F1 | 80.56 | 0.63 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (5): 46, 48, 50, 55, 64
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-196807 | Nicotinate metabolism |
| R-HSA-1430728 | Metabolism |
| R-HSA-196849 | Metabolism of water-soluble vitamins and cofactors |
| R-HSA-196854 | Metabolism of vitamins and cofactors |
MSigDB gene sets: 224 (showing top):
GOBP_NADPPLUS_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, CEBPB_01, GOBP_NADPLUS_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, ACATTCC_MIR1_MIR206, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, HAN_SATB1_TARGETS_DN
GO Biological Process (5): NADP+ biosynthetic process (GO:0006741), phosphorylation (GO:0016310), NAD+ metabolic process (GO:0019674), positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774), ATP metabolic process (GO:0046034)
GO Molecular Function (7): NAD+ kinase activity (GO:0003951), ATP binding (GO:0005524), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (1): cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Metabolism of water-soluble vitamins and cofactors | 1 |
| Metabolism of vitamins and cofactors | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| purine nucleotide biosynthetic process | 1 |
| NADP+ metabolic process | 1 |
| nicotinamide nucleotide biosynthetic process | 1 |
| phosphate-containing compound metabolic process | 1 |
| purine nucleotide metabolic process | 1 |
| nicotinamide nucleotide metabolic process | 1 |
| positive regulation of insulin secretion | 1 |
| insulin secretion involved in cellular response to glucose stimulus | 1 |
| regulation of insulin secretion involved in cellular response to glucose stimulus | 1 |
| purine ribonucleotide metabolic process | 1 |
| purine ribonucleoside triphosphate metabolic process | 1 |
| kinase activity | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2289 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NADK | NADK2 | Q4G0N4 | 792 |
| NADK | NMNAT1 | Q9HAN9 | 627 |
| NADK | H6PD | O95479 | 617 |
| NADK | NAPRT | Q6XQN6 | 617 |
| NADK | NMNAT2 | Q9BZQ4 | 604 |
| NADK | A0A2R8YFG2 | A0A2R8YFG2 | 604 |
| NADK | G6PD | P11413 | 597 |
| NADK | NADSYN1 | Q6IA69 | 576 |
| NADK | QPRT | Q15274 | 552 |
| NADK | PGD | P52209 | 497 |
| NADK | NAMPT | P43490 | 469 |
| NADK | GPI | P06744 | 464 |
| NADK | TALDO1 | P37837 | 453 |
| NADK | CALM1 | P02593 | 447 |
| NADK | RFK | Q969G6 | 446 |
IntAct
116 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAG | NADK | psi-mi:“MI:0915”(physical association) | 0.850 |
| YWHAH | ABLIM1 | psi-mi:“MI:0914”(association) | 0.800 |
| SDCBP | NADK | psi-mi:“MI:0915”(physical association) | 0.780 |
| NADK | SDCBP | psi-mi:“MI:0915”(physical association) | 0.780 |
| NADK | YWHAZ | psi-mi:“MI:0914”(association) | 0.760 |
| NADK | YWHAZ | psi-mi:“MI:0915”(physical association) | 0.760 |
| NADK | LNX1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| MCL1 | PRKAB2 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| YEF1 | NADK | psi-mi:“MI:0915”(physical association) | 0.560 |
| NADK | POS5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POS5 | NADK | psi-mi:“MI:0915”(physical association) | 0.560 |
| NADK | YEF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NADK | FAM124B | psi-mi:“MI:0915”(physical association) | 0.560 |
| NADK | CRY2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUDT18 | NADK | psi-mi:“MI:0915”(physical association) | 0.550 |
| NADK | NUDT18 | psi-mi:“MI:0915”(physical association) | 0.550 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (98): NADK (Two-hybrid), NADK (Affinity Capture-RNA), LNX1 (Two-hybrid), NADK (Two-hybrid), NUDT18 (Two-hybrid), NADK (Synthetic Lethality), NADK (Biochemical Activity), NADK (Affinity Capture-MS), NADK (Affinity Capture-MS), KIF13B (Affinity Capture-MS), NADK (Affinity Capture-MS), NADK (Affinity Capture-MS), GIGYF1 (Affinity Capture-MS), CGN (Affinity Capture-MS), LRFN1 (Affinity Capture-MS)
ESM2 similar proteins: A0JMG1, A2VE52, D3K5L7, E0CZ16, E1C6Q1, E2R222, F1LZ52, F1LZF0, F1MBP6, O13016, O35345, O43791, O60684, O95164, O95198, O95544, P35815, P36993, P54797, P58058, P63143, P63144, Q0IHH9, Q0V7M0, Q0VCW1, Q15645, Q28528, Q28F89, Q2M2N2, Q2TA46, Q3UA06, Q4PJK1, Q5BL35, Q5NVK7, Q5RBV0, Q5REP9, Q5U1X1, Q5XHZ9, Q6GR09, Q6IQ16
Diamond homologs: A0L8H9, A0LG64, A1KT64, A1VKP7, A1W4H1, A3CU51, A3DDM2, A6VXA6, A8ZWQ4, A9M3N9, B0K0V4, B0K9E7, B4RK90, B5EFY8, B7J4J4, B8FN99, B8I3A3, B9M5P5, B9ME57, C1A039, C1D6U5, C1DPY6, C4Z0G9, C5A3H8, C6E6I5, O13863, O95544, P21373, P32622, P58058, P65772, P65773, P73955, Q06892, Q0SS07, Q12DZ0, Q1ICQ6, Q1ISV1, Q1WSL8, Q2NEP6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 90 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 8 | 86.7× | 5e-12 |
| Activation of BAD and translocation to mitochondria | 7 | 86.0× | 9e-11 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 75.8× | 2e-10 |
| Activation of BH3-only proteins | 7 | 56.1× | 1e-09 |
| RHO GTPases activate PKNs | 8 | 40.9× | 1e-09 |
| Intrinsic Pathway for Apoptosis | 7 | 33.1× | 5e-08 |
| FOXO-mediated transcription | 5 | 27.1× | 2e-05 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 8 | 19.9× | 2e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 6 | 26.8× | 6e-05 |
| Ras protein signal transduction | 5 | 12.5× | 6e-03 |
| cellular response to insulin stimulus | 5 | 10.4× | 8e-03 |
| intracellular protein localization | 8 | 10.2× | 3e-04 |
| actin cytoskeleton organization | 7 | 6.8× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
97 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 69 |
| Likely benign | 8 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2521 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:1752926:T:TA | donor_gain | 1.0000 |
| 1:1753013:C:T | acceptor_gain | 1.0000 |
| 1:1753646:TGAT:T | acceptor_gain | 1.0000 |
| 1:1753650:C:CC | acceptor_gain | 1.0000 |
| 1:1754206:CTC:C | acceptor_gain | 1.0000 |
| 1:1754282:A:AC | donor_gain | 1.0000 |
| 1:1754283:C:CC | donor_gain | 1.0000 |
| 1:1754379:AGGAC:A | acceptor_gain | 1.0000 |
| 1:1754380:GGAC:G | acceptor_gain | 1.0000 |
| 1:1754381:GAC:G | acceptor_gain | 1.0000 |
| 1:1754382:AC:A | acceptor_gain | 1.0000 |
| 1:1754382:ACC:A | acceptor_loss | 1.0000 |
| 1:1754383:CC:C | acceptor_gain | 1.0000 |
| 1:1754384:C:CA | acceptor_loss | 1.0000 |
| 1:1754384:C:CC | acceptor_gain | 1.0000 |
| 1:1754385:T:A | acceptor_loss | 1.0000 |
| 1:1754542:A:AC | donor_gain | 1.0000 |
| 1:1754543:C:CC | donor_gain | 1.0000 |
| 1:1754695:TTCC:T | acceptor_gain | 1.0000 |
| 1:1754696:TCC:T | acceptor_gain | 1.0000 |
| 1:1754697:CC:C | acceptor_gain | 1.0000 |
| 1:1754697:CCC:C | acceptor_gain | 1.0000 |
| 1:1754698:CC:C | acceptor_gain | 1.0000 |
| 1:1754698:CCTG:C | acceptor_loss | 1.0000 |
| 1:1754707:C:CT | acceptor_gain | 1.0000 |
| 1:1754707:C:T | acceptor_gain | 1.0000 |
| 1:1754708:A:T | acceptor_gain | 1.0000 |
| 1:1754710:C:CT | acceptor_gain | 1.0000 |
| 1:1754717:C:CT | acceptor_gain | 1.0000 |
| 1:1754718:A:T | acceptor_gain | 1.0000 |
AlphaMissense
2944 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:1752964:C:A | W427C | 1.000 |
| 1:1752964:C:G | W427C | 1.000 |
| 1:1752966:A:G | W427R | 1.000 |
| 1:1752966:A:T | W427R | 1.000 |
| 1:1754180:G:C | S324R | 1.000 |
| 1:1754180:G:T | S324R | 1.000 |
| 1:1754182:T:G | S324R | 1.000 |
| 1:1754184:C:T | G323D | 1.000 |
| 1:1754208:C:T | G315E | 1.000 |
| 1:1757251:A:G | L108P | 1.000 |
| 1:1757276:A:G | W100R | 1.000 |
| 1:1757276:A:T | W100R | 1.000 |
| 1:1752961:G:C | N428K | 0.999 |
| 1:1752961:G:T | N428K | 0.999 |
| 1:1752965:C:G | W427S | 0.999 |
| 1:1752996:A:G | W417R | 0.999 |
| 1:1752996:A:T | W417R | 0.999 |
| 1:1754055:A:G | L366P | 0.999 |
| 1:1754073:A:T | V360D | 0.999 |
| 1:1754098:A:G | S352P | 0.999 |
| 1:1754101:G:C | H351D | 0.999 |
| 1:1754105:G:C | C349W | 0.999 |
| 1:1754107:A:G | C349R | 0.999 |
| 1:1754127:G:T | A342D | 0.999 |
| 1:1754128:C:G | A342P | 0.999 |
| 1:1754160:G:T | A331D | 0.999 |
| 1:1754173:A:G | Y327H | 0.999 |
| 1:1754184:C:A | G323V | 0.999 |
| 1:1754185:C:G | G323R | 0.999 |
| 1:1754199:A:T | V318E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000157898 (1:1774163 GTA>G,GTATA), RS1000297994 (1:1758791 TG>T), RS1000335089 (1:1776271 C>A,T), RS1000388683 (1:1766959 C>G,T), RS1000417048 (1:1774293 C>T), RS1000455750 (1:1762957 G>A), RS1000511039 (1:1778381 G>T), RS1000515545 (1:1757007 C>A,T), RS1000542114 (1:1778445 G>C), RS1000568664 (1:1778921 G>A,C), RS1000679678 (1:1760812 C>T), RS1000828143 (1:1762688 T>C), RS1000846572 (1:1771166 A>G), RS1000917527 (1:1765257 C>T), RS1001046030 (1:1770996 C>T)
Disease associations
OMIM: gene MIM:611616 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004278_58 | Pulse pressure | 2.000000e-06 |
| GCST004278_60 | Pulse pressure | 2.000000e-10 |
| GCST004279_36 | Systolic blood pressure | 1.000000e-12 |
| GCST004904_247 | Body mass index | 2.000000e-09 |
| GCST005951_34 | Body mass index | 3.000000e-08 |
| GCST006585_2582 | Blood protein levels | 1.000000e-08 |
| GCST007267_165 | Systolic blood pressure | 2.000000e-09 |
| GCST007388_19 | Insomnia symptoms (never/rarely vs. usually) | 9.000000e-09 |
| GCST009597_82 | Multiple sclerosis | 3.000000e-06 |
| GCST010796_3550 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010796_3551 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_3552 | Electrocardiogram morphology (amplitude at temporal datapoints) | 6.000000e-09 |
| GCST90002405_585 | Reticulocyte count | 5.000000e-10 |
| GCST90002406_151 | Reticulocyte fraction of red cells | 1.000000e-09 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0004340 | body mass index |
| EFO:0007876 | insomnia measurement |
| EFO:0004327 | electrocardiography |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6177 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 22,804 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL297453 | EPIGALOCATECHIN GALLATE | 3 | 22,804 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
7 potent at pChembl≥5 of 18 total, top 7 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.02 | IC50 | 960 | nM | EPIGALOCATECHIN GALLATE |
| 5.75 | Kd | 1780 | nM | EPIGALOCATECHIN GALLATE |
| 5.48 | Ki | 3280 | nM | EPIGALOCATECHIN GALLATE |
| 5.22 | Ki | 6000 | nM | CHEMBL560315 |
| 5.22 | Ki | 6000 | nM | CHEMBL562056 |
| 5.22 | IC50 | 6000 | nM | CHEMBL560315 |
| 5.22 | IC50 | 6000 | nM | CHEMBL562056 |
PubChem BioAssay actives
7 with measured affinity, of 72 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| [(2R,3R)-5,7-dihydroxy-2-(3,4,5-trihydroxyphenyl)-3,4-dihydro-2H-chromen-3-yl] 3,4,5-trihydroxybenzoate | 1865601: Inhibition of NADK delta 95 kinase domain (unknown origin) at 80 uM measured after 30 mins by HDX-MS analysis | ic50 | 0.9600 | uM |
| (2S,3S,4R,5R)-2-[[[(2S,3S,4R,5R)-5-(6-amino-8-bromopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyldisulfanyl]methyl]-5-(6-aminopurin-9-yl)oxolane-3,4-diol | 1865593: Inhibition of human NADK by HPLC analysis | ki | 6.0000 | uM |
| (2R,3R,4S,5S)-2-(6-amino-8-bromopurin-9-yl)-5-[[[(2S,3S,4R,5R)-5-(6-amino-8-bromopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methyldisulfanyl]methyl]oxolane-3,4-diol | 1865593: Inhibition of human NADK by HPLC analysis | ki | 6.0000 | uM |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, decreases expression | 3 |
| Arsenic | decreases expression, increases abundance, affects methylation, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| potassium perchlorate | decreases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| 3-(1-deoxyribofuranosyl)benzamide | decreases activity, decreases abundance | 1 |
| benzamide adenine nucleotide | increases phosphorylation | 1 |
| motexafin gadolinium | increases expression, affects cotreatment | 1 |
| Bortezomib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| NAD | increases phosphorylation | 1 |
| NADP | decreases abundance, decreases activity | 1 |
| Nickel | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Smoke | increases expression | 1 |
ChEMBL screening assays
16 unique, capped per target: 16 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1063153 | Binding | Inhibition of human NAD kinase by modified HPLC based assay | Selective inhibition of nicotinamide adenine dinucleotide kinases by dinucleoside disulfide mimics of nicotinamide adenine dinucleotide analogues. — Bioorg Med Chem |
Cellosaurus cell lines
2 cell lines: 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3BT | Abcam HEK293T NADK KO | Transformed cell line | Female |
| CVCL_XQ84 | HAP1 NADK (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.