NUDT11
geneOn this page
Also known as DIPP3bFLJ10628hDIPP3beta
Summary
NUDT11 (nudix hydrolase 11, HGNC:18011) is a protein-coding gene on chromosome Xp11.22, encoding Diphosphoinositol polyphosphate phosphohydrolase 3-beta (Q96G61). Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction.
NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).
Source: NCBI Gene 55190 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 15 total
- Druggable target: yes
- MANE Select transcript:
NM_018159
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18011 |
| Approved symbol | NUDT11 |
| Name | nudix hydrolase 11 |
| Location | Xp11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DIPP3b, FLJ10628, hDIPP3beta |
| Ensembl gene | ENSG00000196368 |
| Ensembl biotype | protein_coding |
| OMIM | 300528 |
| Entrez | 55190 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000375992
RefSeq mRNA: 1 — MANE Select: NM_018159
NM_018159
CCDS: CCDS43952
Canonical transcript exons
ENST00000375992 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001469078 | 51490011 | 51491749 |
| ENSE00001469091 | 51495951 | 51496592 |
Expression profiles
Bgee: expression breadth ubiquitous, 220 present calls, max score 96.02.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1216 / max 91.3983, expressed in 1125 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199304 | 2.2501 | 911 |
| 199303 | 2.2418 | 955 |
| 199306 | 1.1843 | 376 |
| 199305 | 0.4454 | 253 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 96.02 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 94.59 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.65 | gold quality |
| embryo | UBERON:0000922 | 93.53 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.51 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.16 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 92.97 | gold quality |
| right testis | UBERON:0004534 | 90.61 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 90.44 | gold quality |
| oocyte | CL:0000023 | 90.22 | gold quality |
| secondary oocyte | CL:0000655 | 89.73 | gold quality |
| ventricular zone | UBERON:0003053 | 89.68 | gold quality |
| testis | UBERON:0000473 | 89.53 | gold quality |
| left testis | UBERON:0004533 | 89.30 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 88.88 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.82 | gold quality |
| cauda epididymis | UBERON:0004360 | 88.16 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 88.12 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 88.11 | gold quality |
| entorhinal cortex | UBERON:0002728 | 88.07 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.96 | gold quality |
| postcentral gyrus | UBERON:0002581 | 87.91 | gold quality |
| hypothalamus | UBERON:0001898 | 87.23 | gold quality |
| adult organism | UBERON:0007023 | 87.16 | gold quality |
| frontal cortex | UBERON:0001870 | 87.00 | gold quality |
| neocortex | UBERON:0001950 | 86.98 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 86.76 | gold quality |
| cingulate cortex | UBERON:0003027 | 86.73 | gold quality |
| parietal lobe | UBERON:0001872 | 86.64 | gold quality |
| cerebral cortex | UBERON:0000956 | 86.55 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 29.18 |
| E-ANND-3 | no | 2.17 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
96 targeting NUDT11, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
Literature-anchored findings (GeneRIF, showing 3)
- The NUDT11 gene, located on chromosome X, is preferentially expressed in the testis (PMID:12105228)
- Cloning and characterisation of NUDT11 as a diadenosine polyphosphate-metabolising Nudix hydrolase. (PMID:12121577)
- NUDT11, HNF1B, and SLC22A3 genes have roles in prostate cancer pathogenesis (PMID:22730461)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Nudt10 | ENSMUSG00000073293 |
| mus_musculus | Nudt11 | ENSMUSG00000073295 |
| rattus_norvegicus | LOC134484128 | ENSRNOG00000046053 |
| rattus_norvegicus | ENSRNOG00000080376 |
Paralogs (4): NUDT10 (ENSG00000122824), NUDT4 (ENSG00000173598), NUDT4B (ENSG00000177144), NUDT3 (ENSG00000272325)
Protein
Protein identifiers
Diphosphoinositol polyphosphate phosphohydrolase 3-beta — Q96G61 (reviewed: Q96G61)
Alternative names: Diadenosine 5’,5’’’-P1,P6-hexaphosphate hydrolase 3-beta, Diadenosine hexaphosphate hydrolase (AMP-forming), Nucleoside diphosphate-linked moiety X motif 11, hAps1
All UniProt accessions (1): Q96G61
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 also expressed in pancreas and weakly expressed in thymus, prostate, ovary, lung, small intestine and heart.
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 (1): NP_060629* (*=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 3.6.1.52 — diphosphoinositol-polyphosphate diphosphatase (BRENDA: 7 organisms, 75 substrates, 14 inhibitors, 14 Km, 20 kcat entries)
- 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)
16 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| DIPHOSPHOINOSITOL PENTAKISPHOSPHATE | — | 6 |
| P1,P5-BIS(5’-ADENOSYL)PENTAPHOSPHATE | 0.0077–0.05 | 6 |
| P1,P6-BIS(5’-ADENOSYL)HEXAPHOSPHATE | 0.0059–0.61 | 3 |
| 4-NITROPHENYL PHOSPHATE | 3 | 1 |
| 5-DIPHOSPHOINOSITOL PENTAKISPHOSPHATE | 0.035 | 1 |
| 5-PHOSPHO-D-RIBOSYL 1-DIPHOSPHATE | 0.13 | 1 |
| ADENOSINE TETRAPHOSPHATE | 0.004 | 1 |
| BISDIPHOSPHOINOSITOL TETRAKISPHOSPHATE | — | 1 |
| DIADENOSINE 5’,5’’’-P1,P6-HEXAPHOSPHATE | 0.018 | 1 |
| GUANOSINE TETRAPHOSPHATE | 0.011 | 1 |
| 1,5-BIS-DIPHOSPHOINOSITOL 2,3,4,6-TETRAKISPHOSPH | — | 0 |
| 1-DIPHOSPHOINOSITOL 2,3,4,5,6-PENTAKISPHOSPHATE | — | 0 |
| 2-DIPHOSPHOINOSITOL 1,3,4,5,6-PENTAKISPHOSPHATE | — | 0 |
| 4-DIPHOSPHOINOSITOL 1,2,3,5,6-PENTAKISPHOSPHATE | — | 0 |
| 5-DIPHOSPHOINOSITOL 1,2,3,4,6-PENTAKISPHOSPHATE | — | 0 |
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 (17 total): binding site 10, chain 1, domain 1, sequence variant 1, region of interest 1, short sequence motif 1, compositionally biased region 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96G61-F1 | 89.37 | 0.79 |
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: 140 (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, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, NRF2_Q4, GOBP_NUCLEOSIDE_PHOSPHATE_CATABOLIC_PROCESS, WHN_B, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_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
1066 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NUDT11 | EHBP1 | Q8NDI1 | 819 |
| NUDT11 | STYXL1 | Q9Y6J8 | 646 |
| NUDT11 | KLK3 | P07288 | 607 |
| NUDT11 | MSMB | P08118 | 579 |
| NUDT11 | NXF3 | Q9H4D5 | 504 |
| NUDT11 | SLC22A3 | O75751 | 489 |
| NUDT11 | UHMK1 | Q8TAS1 | 489 |
| NUDT11 | LMTK2 | Q8IWU2 | 479 |
| NUDT11 | CTAG2 | O75638 | 471 |
| NUDT11 | NUDT1 | P36639 | 462 |
| NUDT11 | NUDT12 | Q9BQG2 | 460 |
| NUDT11 | SSU72 | Q9NP77 | 447 |
| NUDT11 | BRD10 | Q5HYC2 | 439 |
| NUDT11 | TRIM39 | Q9HCM9 | 434 |
| NUDT11 | NUDT14 | O95848 | 433 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NUDT11 | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDIT4L | NUDT11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAD2L2 | psi-mi:“MI:0914”(association) | 0.350 | |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| ANKLE2 | NUDT4B | psi-mi:“MI:0914”(association) | 0.350 |
| TRAF6 | NUDT11 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (7): NUDT11 (Affinity Capture-MS), NUDT11 (Affinity Capture-MS), NUDT11 (Affinity Capture-RNA), NUDT11 (Affinity Capture-MS), NUDT11 (Affinity Capture-MS), NUDT11 (Proximity Label-MS), NUDT11 (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, P32091, P59659, P13420, Q6NPD7, Q75UV1, Q8L7W2, Q94B74, Q9SJC4, Q9SJC6, Q9SU14, F1P963, O45830
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 | 6 |
| Likely benign | 1 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
390 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:51491750:C:T | acceptor_loss | 1.0000 |
| X:51491751:T:C | acceptor_loss | 1.0000 |
| X:51491746:TCAT:T | acceptor_gain | 0.9900 |
| X:51491747:CAT:C | acceptor_gain | 0.9900 |
| X:51491747:CATC:C | acceptor_gain | 0.9900 |
| X:51491750:C:CC | acceptor_gain | 0.9900 |
| X:51495949:A:AC | donor_gain | 0.9900 |
| X:51495950:C:CC | donor_gain | 0.9900 |
| X:51491745:TTCAT:T | acceptor_gain | 0.9800 |
| X:51491746:TCATC:T | acceptor_gain | 0.9800 |
| X:51491747:CATCT:C | acceptor_gain | 0.9800 |
| X:51491748:AT:A | acceptor_gain | 0.9800 |
| X:51491748:ATCT:A | acceptor_gain | 0.9800 |
| X:51491749:TCTG:T | acceptor_gain | 0.9800 |
| X:51495950:CTA:C | donor_gain | 0.9700 |
| X:51496338:A:AC | donor_gain | 0.9700 |
| X:51496339:C:CC | donor_gain | 0.9700 |
| X:51491750:C:G | acceptor_gain | 0.9600 |
| X:51495950:CTAGG:C | donor_gain | 0.9600 |
| X:51495963:T:C | donor_gain | 0.9600 |
| X:51496166:CGTT:C | donor_gain | 0.9600 |
| X:51495950:CT:C | donor_gain | 0.9500 |
| X:51496012:G:C | donor_gain | 0.9500 |
| X:51495945:ACAT:A | donor_loss | 0.9300 |
| X:51495947:ATAC:A | donor_loss | 0.9300 |
| X:51495948:TA:T | donor_loss | 0.9300 |
| X:51495949:A:AT | donor_loss | 0.9300 |
| X:51495950:C:A | donor_loss | 0.9300 |
| X:51495950:CTAG:C | donor_gain | 0.9300 |
| X:51495989:T:TA | donor_gain | 0.9300 |
AlphaMissense
1059 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:51496090:A:G | W119R | 1.000 |
| X:51496090:A:T | W119R | 1.000 |
| X:51496100:C:A | R115S | 1.000 |
| X:51496100:C:G | R115S | 1.000 |
| X:51496101:C:A | R115M | 1.000 |
| X:51496101:C:G | R115T | 1.000 |
| X:51496233:C:T | G71E | 1.000 |
| X:51496088:C:A | W119C | 0.999 |
| X:51496088:C:G | W119C | 0.999 |
| X:51496124:C:A | W107C | 0.999 |
| X:51496124:C:G | W107C | 0.999 |
| X:51496126:A:G | W107R | 0.999 |
| X:51496126:A:T | W107R | 0.999 |
| X:51496152:A:G | L98P | 0.999 |
| X:51496225:C:G | G74R | 0.999 |
| X:51496225:C:T | G74R | 0.999 |
| X:51496233:C:A | G71V | 0.999 |
| X:51496237:C:G | A70P | 0.999 |
| X:51496250:C:A | E65D | 0.999 |
| X:51496250:C:G | E65D | 0.999 |
| X:51496254:C:G | R64P | 0.999 |
| X:51496302:G:T | P48Q | 0.999 |
| X:51496312:A:G | W45R | 0.999 |
| X:51496312:A:T | W45R | 0.999 |
| X:51496341:A:G | L35S | 0.999 |
| X:51496344:A:G | L34P | 0.999 |
| X:51496373:G:C | C24W | 0.999 |
| X:51496379:G:C | C22W | 0.999 |
| X:51496059:A:G | L129P | 0.998 |
| X:51496072:C:G | A125P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000190777 (X:51489777 G>A,C,T), RS1004595019 (X:51490549 T>C), RS1005114098 (X:51491092 C>T), RS1006383205 (X:51493181 T>G), RS1008835488 (X:51489837 C>A), RS1010500155 (X:51491729 C>T), RS1010786282 (X:51494484 T>C), RS1010864565 (X:51492219 A>G), RS1011250887 (X:51493991 T>C), RS1012921857 (X:51489718 G>C), RS1013194175 (X:51490652 G>A), RS1013309694 (X:51491356 C>T), RS1014556143 (X:51490289 A>G), RS1015083654 (X:51490550 G>A), RS1016348985 (X:51492632 C>T)
Disease associations
OMIM: gene MIM:300528 | disease phenotypes: MIM:300491
GenCC curated gene-disease
Mondo (1): epilepsy, X-linked 1, with variable learning disabilities and behavior disorders (MONDO:0010339)
Orphanet (1): X-linked epilepsy-learning disabilities-behavior disorders syndrome (Orphanet:85294)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000152_12 | Prostate cancer | 2.000000e-09 |
| GCST000153_1 | Prostate cancer | 4.000000e-13 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C564505 | Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4296042 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 6 |
| sodium arsenite | increases expression, decreases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| P(1),P(5)-di(adenosine-5’-)pentaphosphate | increases metabolic processing, increases reaction, increases chemical synthesis | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| adenosine 5’-tetraphosphate | increases metabolic processing, increases chemical synthesis | 1 |
| manganese chloride | increases metabolic processing, increases reaction | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression | 1 |
| adenosine 5’-pentaphosphate | increases chemical synthesis, increases metabolic processing | 1 |
| diadenosine 5’,5’’’’-P1,P6-hexaphosphate | increases metabolic processing, increases chemical synthesis | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| Sunitinib | decreases expression | 1 |
| Adenosine Monophosphate | increases chemical synthesis, increases metabolic processing | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Calcitriol | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Succimer | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | increases expression, decreases reaction | 1 |
| Rotenone | decreases expression | 1 |
| Dihydrotestosterone | increases 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 |
|---|---|---|---|
| CHEMBL4259509 | ADMET | Substrate activity at N-terminal His-tagged DIPP3-beta (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 |
| CHEMBL4259518 | Binding | Stabilization of N-terminal His-tagged DIPP3-beta (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_D1I2 | HAP1 NUDT11 (-) 1 | Cancer cell line | Male |
| CVCL_D1I3 | HAP1 NUDT11 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): epilepsy, X-linked 1, with variable learning disabilities and behavior disorders