NUDT10
gene geneOn this page
Also known as DIPP3ahDIPP3alpha
Summary
NUDT10 (nudix hydrolase 10, HGNC:17621) is a protein-coding gene on chromosome Xp11.22, encoding Diphosphoinositol polyphosphate phosphohydrolase 3-alpha (Q8NFP7). Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction.
This gene is a member of the nudix (nucleoside diphosphate linked moiety X)-type motif containing family. The encoded protein is a phosphohydrolase and may regulate the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to the regulation of intracellular trafficking. In some populations putative prostate cancer susceptibility alleles have been identified for this gene. Alternatively spliced transcript variants, which differ only in the 5’ UTR, have been found for this gene.
Source: NCBI Gene 170685 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 15 total
- Druggable target: yes
- MANE Select transcript:
NM_001304963
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17621 |
| Approved symbol | NUDT10 |
| Name | nudix hydrolase 10 |
| Location | Xp11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DIPP3a, hDIPP3alpha |
| Ensembl gene | ENSG00000122824 |
| Ensembl biotype | protein_coding |
| OMIM | 300527 |
| Entrez | 170685 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000356450, ENST00000376006
RefSeq mRNA: 2 — MANE Select: NM_001304963
NM_001304963, NM_153183
CCDS: CCDS35278
Canonical transcript exons
ENST00000356450 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001469102 | 51332822 | 51333459 |
| ENSE00001469113 | 51336239 | 51337525 |
Expression profiles
Bgee: expression breadth ubiquitous, 171 present calls, max score 91.20.
FANTOM5 (CAGE): breadth broad, TPM avg 3.1711 / max 124.0915, expressed in 646 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 196360 | 1.9093 | 471 |
| 196361 | 0.6126 | 326 |
| 209684 | 0.4040 | 227 |
| 196358 | 0.1722 | 103 |
| 196359 | 0.0729 | 27 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 91.20 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.39 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.37 | gold quality |
| right testis | UBERON:0004534 | 87.05 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.91 | gold quality |
| testis | UBERON:0000473 | 85.50 | gold quality |
| left testis | UBERON:0004533 | 85.46 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 84.76 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.40 | gold quality |
| right ovary | UBERON:0002118 | 83.95 | gold quality |
| ventricular zone | UBERON:0003053 | 83.78 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 83.05 | gold quality |
| left ovary | UBERON:0002119 | 82.90 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 82.72 | gold quality |
| seminal vesicle | UBERON:0000998 | 82.59 | gold quality |
| hypothalamus | UBERON:0001898 | 82.33 | gold quality |
| neocortex | UBERON:0001950 | 81.35 | gold quality |
| frontal cortex | UBERON:0001870 | 81.17 | gold quality |
| ovary | UBERON:0000992 | 80.38 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.35 | gold quality |
| nucleus accumbens | UBERON:0001882 | 80.01 | gold quality |
| cerebral cortex | UBERON:0000956 | 79.37 | gold quality |
| amygdala | UBERON:0001876 | 79.07 | gold quality |
| pancreatic ductal cell | CL:0002079 | 78.14 | silver quality |
| prostate gland | UBERON:0002367 | 77.46 | gold quality |
| forebrain | UBERON:0001890 | 76.52 | gold quality |
| brain | UBERON:0000955 | 75.89 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 75.51 | gold quality |
| caudate nucleus | UBERON:0001873 | 75.50 | gold quality |
| myometrium | UBERON:0001296 | 75.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
46 targeting NUDT10, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-18A-3P | 99.56 | 65.68 | 1092 |
| HSA-MIR-4753-5P | 99.54 | 68.51 | 1356 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-4480 | 99.42 | 66.02 | 735 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-6088 | 99.29 | 68.45 | 1284 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-3973 | 99.20 | 69.19 | 1990 |
| HSA-MIR-2054 | 99.20 | 68.89 | 1699 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
Literature-anchored findings (GeneRIF, showing 3)
- The NUDT10 gene, located on chromosome X, is preferentially expressed in the testis (PMID:12105228)
- Cloning and characterisation of NUDT10 as a diadenosine polyphosphate-metabolising Nudix hydrolase. (PMID:12121577)
- Clinical correlations and prognostic value of Nudix hydroxylase 10 in patients with gastric cancer. (PMID:34696672)
Cross-species orthologs
0 orthologs
Paralogs (4): NUDT4 (ENSG00000173598), NUDT4B (ENSG00000177144), NUDT11 (ENSG00000196368), NUDT3 (ENSG00000272325)
Protein
Protein identifiers
Diphosphoinositol polyphosphate phosphohydrolase 3-alpha — Q8NFP7 (reviewed: Q8NFP7)
Alternative names: Diadenosine 5’,5’’’-P1,P6-hexaphosphate hydrolase 3-alpha, Diadenosine hexaphosphate hydrolase (AMP-forming), Nucleoside diphosphate-linked moiety X motif 10, hAps2
All UniProt accessions (1): Q8NFP7
UniProt curated annotations — full annotation on UniProt →
Function. Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate.
Subcellular location. Cytoplasm.
Tissue specificity. Mainly expressed in testis and, at lower level in brain. According to PubMed:12121577, it is widely expressed.
Cofactor. Binds 3 Mg(2+) or Mn(2+) ions per subunit. Mn(2+) may be the true cofactor in vivo.
Similarity. Belongs to the Nudix hydrolase family. DIPP subfamily.
RefSeq proteins (2): NP_001291892, NP_694853 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000086 | NUDIX_hydrolase_dom | Domain |
| IPR015797 | NUDIX_hydrolase-like_dom_sf | Homologous_superfamily |
| IPR020084 | NUDIX_hydrolase_CS | Conserved_site |
| IPR047198 | DDP-like_NUDIX | Domain |
Pfam: PF00293
Enzyme classification (BRENDA):
- EC 3.6.1.60 — diadenosine hexaphosphate hydrolase (AMP-forming) (BRENDA: 3 organisms, 19 substrates, 9 inhibitors, 9 Km, 9 kcat entries)
Substrate kinetics (BRENDA)
2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| P1,P5-BIS(5’-ADENOSYL)PENTAPHOSPHATE | 0.0077–0.05 | 6 |
| P1,P6-BIS(5’-ADENOSYL)HEXAPHOSPHATE | 0.0059–0.61 | 3 |
Catalyzed reactions (Rhea), 2 shown:
- P(1),P(6)-bis(5’-adenosyl) hexaphosphate + H2O = adenosine 5’-pentaphosphate + AMP + 2 H(+) (RHEA:32047)
- P(1),P(5)-bis(5’-adenosyl) pentaphosphate + H2O = adenosine 5’-tetraphosphate + AMP + 2 H(+) (RHEA:32051)
UniProt features (30 total): binding site 10, strand 8, helix 4, sequence conflict 2, chain 1, domain 1, region of interest 1, short sequence motif 1, compositionally biased region 1, active site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3MCF | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NFP7-F1 | 89.80 | 0.80 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 68 (proton acceptor)
Ligand- & substrate-binding residues (10): 65; 65; 69; 89–91; 115; 133; 9; 17–19; 38–40; 49
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1855167 | Synthesis of pyrophosphates in the cytosol |
MSigDB gene sets: 64 (showing top):
AP1_01, TGCGCANK_UNKNOWN, GOBP_INOSITOL_PHOSPHATE_METABOLIC_PROCESS, GOBP_POLYOL_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS, TGANTCA_AP1_C, NRF2_Q4, GOBP_NUCLEOSIDE_PHOSPHATE_CATABOLIC_PROCESS, WHN_B, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_PURINE_CONTAINING_COMPOUND_CATABOLIC_PROCESS
GO Biological Process (4): diphosphoinositol polyphosphate metabolic process (GO:0071543), diadenosine pentaphosphate catabolic process (GO:1901907), diadenosine hexaphosphate catabolic process (GO:1901909), adenosine 5’-(hexahydrogen pentaphosphate) catabolic process (GO:1901911)
GO Molecular Function (8): endopolyphosphatase activity (GO:0000298), diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486), bis(5’-adenosyl)-hexaphosphatase activity (GO:0034431), bis(5’-adenosyl)-pentaphosphatase activity (GO:0034432), metal ion binding (GO:0046872), protein binding (GO:0005515), pyrophosphatase activity (GO:0016462), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Inositol phosphate metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| pyrophosphatase activity | 4 |
| diadenosine polyphosphate catabolic process | 2 |
| cellular anatomical structure | 2 |
| inositol phosphate metabolic process | 1 |
| purine ribonucleotide catabolic process | 1 |
| cation binding | 1 |
| binding | 1 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
770 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NUDT10 | AIRE | O43918 | 833 |
| NUDT10 | TOR1A | O14656 | 774 |
| NUDT10 | TNFRSF25 | P78507 | 751 |
| NUDT10 | MICB | P79525 | 666 |
| NUDT10 | PTPN22 | Q9Y2R2 | 629 |
| NUDT10 | TNFRSF10A | O00220 | 626 |
| NUDT10 | Q5Y7H0 | Q5Y7H0 | 534 |
| NUDT10 | HLA-B | P01889 | 503 |
| NUDT10 | HLA-DRA | P01903 | 426 |
| NUDT10 | RASSF1 | Q9NS23 | 422 |
| NUDT10 | TG | P01266 | 371 |
| NUDT10 | TPO | P07202 | 371 |
| NUDT10 | NUDT22 | Q9BRQ3 | 367 |
| NUDT10 | POMC | P01189 | 366 |
| NUDT10 | NUDT17 | P0C025 | 330 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RNASEH2C | RNASEH2A | psi-mi:“MI:0914”(association) | 0.640 |
| NUDT10 | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUDT10 | TCF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTUS2 | NUDT10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNAPC5 | NUDT10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF4 | NUDT10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUDT10 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUDT10 | PDLIM7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REL | NUDT10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSF2BP | NUDT10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUDT10 | TRIM8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUDT10 | NUDT4B | psi-mi:“MI:0914”(association) | 0.500 |
| NUDT10 | NUDT4B | psi-mi:“MI:0915”(physical association) | 0.500 |
| NUDT3 | NUDT10 | psi-mi:“MI:0914”(association) | 0.350 |
| NUDT10 | TRIM8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NUDT10 | PDLIM7 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NUDT10 | REL | psi-mi:“MI:0915”(physical association) | 0.000 |
| NUDT10 | HSF2BP | psi-mi:“MI:0915”(physical association) | 0.000 |
| ddhA | NUDT10 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RASSF1 | NUDT10 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (20): NUDT10 (Two-hybrid), NUDT10 (Two-hybrid), NUDT10 (Two-hybrid), NUDT10 (Affinity Capture-MS), NUDT10 (Affinity Capture-MS), NUDT10 (Affinity Capture-MS), HSF2BP (Two-hybrid), REL (Two-hybrid), TRIM8 (Two-hybrid), PDLIM7 (Two-hybrid), NUDT10 (Affinity Capture-MS), NUDT10 (Affinity Capture-MS), NUDT4 (Affinity Capture-MS), NUDT10 (Affinity Capture-MS), HNRNPLL (Affinity Capture-MS)
ESM2 similar proteins: A0A024RBG1, A2VE79, A3KMI0, A7E320, B0R160, B6CHA3, F4JLK2, F6UA42, O22951, O45830, O59761, O95989, P0C027, P0C028, P32271, Q08C92, Q09790, Q566C7, Q58CW0, Q5RAF0, Q5RDX4, Q5U243, Q6NPD7, Q6P5D3, Q7TMI3, Q7TPK1, Q7YTB0, Q8BJM7, Q8CIG3, Q8L7W2, Q8NB78, Q8NFP7, Q8R2U6, Q8VDF2, Q8VHT6, Q91WU5, Q96G61, Q96PU4, Q96T88, Q99321
Diamond homologs: A0A024RBG1, A2VE79, O95989, P0C027, P0C028, P53370, P70563, P96590, Q09790, Q52K88, Q566C7, Q58CW0, Q5RAF0, Q8CH40, Q8NFP7, Q8R2U6, Q8VY81, Q93ZY7, Q96G61, Q99321, Q99MY2, Q9JI46, Q9LE73, Q9LHK1, Q9LQU5, Q9NZJ9, Q9ZU95, Q9RVK2, A1AA28, A4FUG7, A7ZKS4, A7ZZ89, B1IUD3, B1LI09, B1XA44, P0AEI6, P0AEI7, P0AEI8, P0AEI9, P0C025
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
15 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 9 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
386 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:51333460:G:GG | donor_gain | 0.9900 |
| X:51336233:TTTTA:T | acceptor_loss | 0.9900 |
| X:51336234:TTTA:T | acceptor_loss | 0.9900 |
| X:51336237:A:AG | acceptor_gain | 0.9800 |
| X:51336238:G:GG | acceptor_gain | 0.9800 |
| X:51336238:GGT:G | acceptor_gain | 0.9800 |
| X:51333447:A:G | donor_gain | 0.9700 |
| X:51333398:C:G | donor_gain | 0.9600 |
| X:51333458:TA:T | donor_gain | 0.9600 |
| X:51336227:TTTTC:T | acceptor_loss | 0.9600 |
| X:51336228:TTTCT:T | acceptor_loss | 0.9600 |
| X:51336229:TTCTT:T | acceptor_loss | 0.9600 |
| X:51336230:TCTTT:T | acceptor_loss | 0.9600 |
| X:51336231:CTTTT:C | acceptor_loss | 0.9600 |
| X:51336232:TTTTT:T | acceptor_loss | 0.9600 |
| X:51333455:CCCTA:C | donor_gain | 0.9500 |
| X:51333457:CTA:C | donor_gain | 0.9500 |
| X:51336225:ATTTT:A | acceptor_loss | 0.9500 |
| X:51336226:TTTTT:T | acceptor_loss | 0.9500 |
| X:51333071:G:GG | donor_gain | 0.9400 |
| X:51333456:CCTA:C | donor_gain | 0.9400 |
| X:51333458:TAGTA:T | donor_loss | 0.9300 |
| X:51333459:AG:A | donor_loss | 0.9300 |
| X:51333460:G:GA | donor_loss | 0.9300 |
| X:51333461:TAT:T | donor_loss | 0.9300 |
| X:51333240:GAAC:G | donor_gain | 0.9200 |
| X:51333349:TCTCC:T | donor_gain | 0.9200 |
| X:51333420:G:GT | donor_gain | 0.9200 |
| X:51332368:G:GG | donor_gain | 0.9100 |
| X:51336238:GGTGA:G | acceptor_gain | 0.8900 |
AlphaMissense
1059 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:51333309:G:C | R115T | 1.000 |
| X:51333309:G:T | R115M | 1.000 |
| X:51333310:G:C | R115S | 1.000 |
| X:51333310:G:T | R115S | 1.000 |
| X:51333031:C:G | C22W | 0.999 |
| X:51333037:C:G | C24W | 0.999 |
| X:51333066:T:C | L34P | 0.999 |
| X:51333069:T:C | L35S | 0.999 |
| X:51333098:T:A | W45R | 0.999 |
| X:51333098:T:C | W45R | 0.999 |
| X:51333108:C:A | P48Q | 0.999 |
| X:51333173:G:C | A70P | 0.999 |
| X:51333177:G:A | G71E | 0.999 |
| X:51333320:T:A | W119R | 0.999 |
| X:51333320:T:C | W119R | 0.999 |
| X:51333322:G:C | W119C | 0.999 |
| X:51333322:G:T | W119C | 0.999 |
| X:51333029:T:C | C22R | 0.998 |
| X:51333035:T:C | C24R | 0.998 |
| X:51333036:G:A | C24Y | 0.998 |
| X:51333105:T:A | V47E | 0.998 |
| X:51333111:G:A | G49D | 0.998 |
| X:51333114:G:A | G50E | 0.998 |
| X:51333150:C:A | A62E | 0.998 |
| X:51333156:G:C | R64P | 0.998 |
| X:51333160:G:C | E65D | 0.998 |
| X:51333160:G:T | E65D | 0.998 |
| X:51333169:A:C | E68D | 0.998 |
| X:51333169:A:T | E68D | 0.998 |
| X:51333177:G:T | G71V | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000477164 (X:51334979 C>T), RS1000787477 (X:51335537 G>T), RS1004900296 (X:51337309 C>G), RS1005398968 (X:51336592 G>A), RS1009150108 (X:51335571 T>C), RS1009183664 (X:51336030 G>A), RS1011946518 (X:51334909 G>A,T), RS1013383330 (X:51336712 C>G), RS1013623642 (X:51337382 T>C), RS1015026087 (X:51336658 C>G,T), RS1015198299 (X:51336160 T>C), RS1018917657 (X:51335190 C>T), RS1018991002 (X:51335590 G>C), RS1023388654 (X:51336770 T>C,G), RS1023459049 (X:51337408 C>T)
Disease associations
OMIM: gene MIM:300527 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000152_12 | Prostate cancer | 2.000000e-09 |
| GCST000153_1 | Prostate cancer | 4.000000e-13 |
| GCST90000050_87 | Age at first birth | 1.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009101 | age at first birth measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295904 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| kojic acid | decreases expression | 1 |
| P(1),P(5)-di(adenosine-5’-)pentaphosphate | increases metabolic processing, increases reaction, increases chemical synthesis | 1 |
| diguanosine tetraphosphate | increases metabolic processing | 1 |
| adenosine 5’-tetraphosphate | increases chemical synthesis, increases metabolic processing | 1 |
| diadenosine tetraphosphate | increases metabolic processing | 1 |
| manganese chloride | increases metabolic processing, increases reaction | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| adenosine 5’-pentaphosphate | increases chemical synthesis, increases metabolic processing | 1 |
| diadenosine 5’,5’’’’-P1,P6-hexaphosphate | increases chemical synthesis, increases metabolic processing | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Adenosine Monophosphate | increases chemical synthesis, increases metabolic processing | 1 |
| Clozapine | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Silicon Dioxide | increases expression | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | decreases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 2 admet, 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4259508 | ADMET | Substrate activity at N-terminal His-tagged DIPP3-alpha (unknown origin) expressed in Escherichia coli assessed as enzyme-mediated test compound metabolism after 20 mins in presence of Mg2+ by malachite green dye based assay | A synthetic diphosphoinositol phosphate analogue of inositol trisphosphate. — Medchemcomm |
| CHEMBL4259517 | Binding | Stabilization of N-terminal His-tagged DIPP3-alpha (unknown origin) expressed in Escherichia coli assessed as increase in melting temperature at 0.1 mM by SYPRO orange dye based DSF method | A synthetic diphosphoinositol phosphate analogue of inositol trisphosphate. — Medchemcomm |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2EN | HAP1 NUDT10 (-) 1 | Cancer cell line | Male |
| CVCL_E2EP | HAP1 NUDT10 (-) 2 | 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.