NOXO1
gene geneOn this page
Also known as P41NOXAP41NOXBP41NOXCSH3PXD5SNX28
Summary
NOXO1 (NADPH oxidase organizer 1, HGNC:19404) is a protein-coding gene on chromosome 16p13.3, encoding NADPH oxidase organizer 1 (Q8NFA2). Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.
This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 124056 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 99 total
- Druggable target: yes
- MANE Select transcript:
NM_172167
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19404 |
| Approved symbol | NOXO1 |
| Name | NADPH oxidase organizer 1 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28 |
| Ensembl gene | ENSG00000196408 |
| Ensembl biotype | protein_coding |
| OMIM | 611256 |
| Entrez | 124056 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 retained_intron
ENST00000354249, ENST00000356120, ENST00000397280, ENST00000563181, ENST00000566005, ENST00000567471, ENST00000569739, ENST00000862125, ENST00000862126, ENST00000862127, ENST00000862128
RefSeq mRNA: 4 — MANE Select: NM_172167
NM_001267721, NM_144603, NM_172167, NM_172168
CCDS: CCDS10454, CCDS10455, CCDS42101, CCDS58406
Canonical transcript exons
ENST00000356120 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001062267 | 1980367 | 1980544 |
| ENSE00001062268 | 1979997 | 1980181 |
| ENSE00001062269 | 1979790 | 1979903 |
| ENSE00001062271 | 1979425 | 1979542 |
| ENSE00001062274 | 1980939 | 1981019 |
| ENSE00001381372 | 1980656 | 1980731 |
| ENSE00001901797 | 1981114 | 1981469 |
| ENSE00003517317 | 1978917 | 1979349 |
Expression profiles
Bgee: expression breadth ubiquitous, 149 present calls, max score 92.30.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1131 / max 30.3209, expressed in 32 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155894 | 0.0483 | 17 |
| 155893 | 0.0375 | 12 |
| 155891 | 0.0273 | 7 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 92.30 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.35 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.68 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 79.64 | silver quality |
| parotid gland | UBERON:0001831 | 78.03 | gold quality |
| pancreatic ductal cell | CL:0002079 | 75.94 | silver quality |
| transverse colon | UBERON:0001157 | 74.96 | gold quality |
| rectum | UBERON:0001052 | 74.72 | gold quality |
| vermiform appendix | UBERON:0001154 | 74.14 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 73.53 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 71.65 | gold quality |
| caecum | UBERON:0001153 | 70.95 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 70.68 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 70.46 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 70.44 | gold quality |
| cortical plate | UBERON:0005343 | 70.43 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 70.36 | gold quality |
| cerebellar cortex | UBERON:0002129 | 70.23 | gold quality |
| cerebellum | UBERON:0002037 | 69.69 | gold quality |
| colonic mucosa | UBERON:0000317 | 68.54 | gold quality |
| medial globus pallidus | UBERON:0002477 | 68.51 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 67.58 | silver quality |
| small intestine Peyer’s patch | UBERON:0003454 | 67.34 | gold quality |
| right lobe of liver | UBERON:0001114 | 67.31 | gold quality |
| left testis | UBERON:0004533 | 67.23 | gold quality |
| upper arm skin | UBERON:0004263 | 67.20 | gold quality |
| ganglionic eminence | UBERON:0004023 | 66.73 | gold quality |
| putamen | UBERON:0001874 | 66.62 | gold quality |
| globus pallidus | UBERON:0001875 | 66.57 | gold quality |
| right testis | UBERON:0004534 | 66.48 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.22 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, JUN
miRNA regulators (miRDB)
2 targeting NOXO1, 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-6826-3P | 98.19 | 66.32 | 1153 |
| HSA-MIR-6847-5P | 97.93 | 66.74 | 1808 |
Literature-anchored findings (GeneRIF, showing 18)
- NOXO1 and NOXA1 activate Nox1 without the need for agonist activation, and this is mediated in part by binding of the NOXO1 PX domain to membrane lipids. (PMID:14617635)
- NOXO1, p47phox, and p67phox regulate Nox3 (PMID:15181005)
- Data suggest different tissue localizations and functions for NOXO1beta and NOXO1gamma in regulating Nox family members. (PMID:15949904)
- These results suggest that the formation of the complex consisting of Nox1, betaPix, and NoxO1 is likely to be a critical step in EGF-induced ROS generation. (PMID:16329988)
- This study shows the expression of alternatively spliced transcripts of the NOXO1 gene and the roles of the protein products in the activation of Nox oxidases. (PMID:16911517)
- These findings suggest that Nox activation involves a conformational change leading to disruption of the bis-SH3-PRR interaction in Noxo1. (PMID:17126813)
- The first quantitative characterization of the interactions made between the cytosolic regulators NOXO1 and NOXA1 and membrane-bound p22(phox), is presented. (PMID:20454568)
- The backbone assignments of NOXO1beta PX are studied using NMR. (PMID:21188560)
- Surface plasmon resonance experiments identify PtdIns(4,5)P(2) and PtdIns(3,4,5)P(3) as preferred targets of NOXO1beta PX. (PMID:22342885)
- Phorbol myristate acetate stimulates NOXO1 phosphorylation in a transfected human embryonic kidney (HEK) 293 epithelial cell model via protein kinase C and identify Ser-154 as the major phosphorylated site. (PMID:23322165)
- Phosphorylation of Thr341 allows Noxo1 to sufficiently interact with Noxa1, an interaction that participates in Nox1 activation (PMID:23957209)
- TNF-alpha/TNFR1 signaling promotes gastric tumorigenesis through induction of Noxo1 and Gna14 in tumor cells. (PMID:23975421)
- Data from pull-down assay between the Noxo1 and Noxa1 showed that the SH3 domains (Noxa1) is responsible for interaction with Noxo1 C-terminal tail harboring proline rich region. (PMID:28625920)
- PEDF protects human glomerular mesangial cells from diabetes-derived oxidative stress via NOXO1- iNOS suppression. (PMID:28944893)
- Tyrosine kinase substrate (Tks) proteins, analogous to the related proteins p47(phox), p40(phox) and NoxO1, also facilitate local generation of reactive oxygen species (ROS), which aid in signaling at invadopodia and/or podosomes to promote their activity. As their name suggests, Tks adaptor proteins are substrates for tyrosine kinases, especially Src. [review] (PMID:29311151)
- CYLD destabilizes NoxO1 protein by promoting ubiquitination and regulates prostate cancer progression. (PMID:34742871)
- Overexpression of a Novel Noxo1 Mutant Increases Ros Production and Noxo1 Relocalisation. (PMID:36902094)
- DNA methylation of ICAM4 and NOXO1 participate in the formation of uterine fibroids via regulating immune cell infiltration. (PMID:38015525)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | noxo1a | ENSDARG00000041294 |
| danio_rerio | noxo1b | ENSDARG00000056374 |
| mus_musculus | Noxo1 | ENSMUSG00000019320 |
| rattus_norvegicus | Noxo1 | ENSRNOG00000025117 |
Paralogs (3): SH3PXD2A (ENSG00000107957), NCF1 (ENSG00000158517), SH3PXD2B (ENSG00000174705)
Protein
Protein identifiers
NADPH oxidase organizer 1 — Q8NFA2 (reviewed: Q8NFA2)
Alternative names: NADPH oxidase regulatory protein, Nox organizer 1, Nox-organizing protein 1, SH3 and PX domain-containing protein 5
All UniProt accessions (2): Q8NFA2, H3BN18
UniProt curated annotations — full annotation on UniProt →
Function. Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Isoform 3 is more potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity.
Subunit / interactions. Interacts with NOX1, NOXA1, CYBA/p22phox and NCF2/p67phox. Interacts with SH3PXD2A and SH3PXD2B.
Subcellular location. Cell membrane.
Tissue specificity. Expressed in testis, small and large intestines, liver, kidney and pancreas. Isoform 3 is mainly expressed in colon. Isoform 1 is preferentially expressed in testis.
Domain organisation. The PX domain mediates lipid-binding, localization to the plasma membrane and is required for NOX1 activation. The SH3 domains mediate interaction with CYBA/p22phox. Also mediates intramolecular interaction with the proline-rich region.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NFA2-1 | 1, NOXO1gamma | yes |
| Q8NFA2-2 | 2, NOXO1delta | |
| Q8NFA2-3 | 3, NOXO1beta | |
| Q8NFA2-4 | 4, NOXO1alpha |
RefSeq proteins (4): NP_001254650, NP_653204, NP_751907, NP_751908 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR001683 | PX_dom | Domain |
| IPR035758 | NoxO1_SH3_2 | Domain |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR036871 | PX_dom_sf | Homologous_superfamily |
| IPR051228 | NADPH_Oxidase/PX-Domain | Family |
Pfam: PF00018
UniProt features (26 total): strand 6, helix 6, mutagenesis site 5, domain 3, region of interest 2, splice variant 2, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2L73 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NFA2-F1 | 64.67 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 202 | loss of ability to activate nox3 and interact with cyba. induces interaction with noxa1 in vitro. |
| 274 | induces interaction with noxa1 in vitro. |
| 332 | loss of intramolecular interaction. |
| 334 | loss of intramolecular interaction. |
| 40 | loss of ability to activate nox1 associated with loss of lipid-binding and plasma membrane localization. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-5668599 | RHO GTPases Activate NADPH Oxidases |
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-9013423 | RAC3 GTPase cycle |
| R-HSA-9673324 | WNT5:FZD7-mediated leishmania damping |
MSigDB gene sets: 105 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_REGULATION_OF_RESPIRATORY_BURST, BENPORATH_ES_WITH_H3K27ME3, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_SUPEROXIDE_METABOLIC_PROCESS, GOBP_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOBP_RESPIRATORY_BURST, GOBP_SUPEROXIDE_ANION_GENERATION, GOBP_EXTRACELLULAR_MATRIX_DISASSEMBLY, GOBP_HYDROGEN_PEROXIDE_METABOLIC_PROCESS, GOBP_REGULATION_OF_HYDROGEN_PEROXIDE_METABOLIC_PROCESS, GOBP_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOCC_OXIDOREDUCTASE_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_PLASMA_MEMBRANE_PROTEIN_COMPLEX
GO Biological Process (5): regulation of hydrogen peroxide metabolic process (GO:0010310), extracellular matrix disassembly (GO:0022617), superoxide anion generation (GO:0042554), regulation of respiratory burst (GO:0060263), superoxide metabolic process (GO:0006801)
GO Molecular Function (6): phospholipid binding (GO:0005543), superoxide-generating NADPH oxidase activator activity (GO:0016176), enzyme binding (GO:0019899), phosphatidylinositol binding (GO:0035091), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (4): cytoplasm (GO:0005737), plasma membrane (GO:0005886), NADPH oxidase complex (GO:0043020), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 2 |
| RHO GTPase Effectors | 1 |
| Killing mechanisms | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cellular anatomical structure | 2 |
| hydrogen peroxide metabolic process | 1 |
| regulation of reactive oxygen species metabolic process | 1 |
| cellular component disassembly | 1 |
| extracellular matrix organization | 1 |
| superoxide metabolic process | 1 |
| regulation of metabolic process | 1 |
| respiratory burst | 1 |
| reactive oxygen species metabolic process | 1 |
| lipid binding | 1 |
| enzyme activator activity | 1 |
| superoxide-generating NADPH oxidase activity | 1 |
| protein binding | 1 |
| anion binding | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane protein complex | 1 |
| oxidoreductase complex | 1 |
Protein interactions and networks
STRING
950 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOXO1 | NOXA1 | Q86UR1 | 999 |
| NOXO1 | NCF2 | P19878 | 999 |
| NOXO1 | NOX1 | Q9Y5S8 | 999 |
| NOXO1 | CYBA | P13498 | 998 |
| NOXO1 | NCF4 | Q15080 | 995 |
| NOXO1 | NOX3 | Q9HBY0 | 992 |
| NOXO1 | NCF1 | P14598 | 988 |
| NOXO1 | CYBB | P04839 | 983 |
| NOXO1 | RAC2 | P15153 | 969 |
| NOXO1 | AKT1 | P31749 | 865 |
| NOXO1 | TRADD | Q15628 | 851 |
| NOXO1 | NOX5 | Q96PH1 | 793 |
| NOXO1 | DUOX1 | Q9NRD9 | 767 |
| NOXO1 | NOX4 | Q9NPH5 | 733 |
| NOXO1 | RFK | Q969G6 | 702 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CYBA | NOXO1 | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| NOXO1 | CYBA | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| NOXA1 | NOXO1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| NOXO1 | NOXO1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NOXO1 | SOD1 | psi-mi:“MI:0914”(association) | 0.350 |
| NOXO1 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| NOXO1 | TUSC2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (21): NOXO1 (Affinity Capture-MS), NOXO1 (Reconstituted Complex), ARHGAP8 (Affinity Capture-MS), MAP1S (Affinity Capture-MS), MAP1B (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), HSPA2 (Affinity Capture-MS), HSPE1 (Affinity Capture-MS), BAG5 (Affinity Capture-MS), STUB1 (Affinity Capture-MS), PASK (Affinity Capture-MS), TUSC2 (Affinity Capture-MS), LMNA (Affinity Capture-MS), PSMG3 (Affinity Capture-MS), NOXO1 (Affinity Capture-Western)
ESM2 similar proteins: A3R064, A7MBB8, B2RYG7, D3ZZN9, E1BDF2, O60496, O70469, O94989, O95153, P97465, P97680, P98077, Q13671, Q14B98, Q1RMU7, Q3MIN7, Q3UR97, Q3UYI5, Q494U1, Q4QQV2, Q58EX7, Q5EA84, Q5FWH6, Q6ICB4, Q6PGG2, Q6ZW31, Q7L591, Q7TNF8, Q8BH49, Q8BWA8, Q8IW93, Q8IYJ3, Q8N878, Q8NAG6, Q8NFA2, Q91WA6, Q921Q7, Q92502, Q969H4, Q969T3
Diamond homologs: Q62662, Q8NFA2, Q8VCM2, O89032
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKCA | up-regulates | NOXO1 | phosphorylation |
| NOXO1 | “up-regulates activity” | NOXA1 | relocalization |
| PKC | “up-regulates activity” | NOXO1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 84 |
| Likely benign | 9 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1205 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:1979419:GCGTA:G | donor_loss | 1.0000 |
| 16:1979420:CGTAC:C | donor_loss | 1.0000 |
| 16:1979421:GTACC:G | donor_loss | 1.0000 |
| 16:1979422:TACCT:T | donor_loss | 1.0000 |
| 16:1979423:A:C | donor_loss | 1.0000 |
| 16:1979424:C:G | donor_loss | 1.0000 |
| 16:1979789:CCG:C | donor_gain | 1.0000 |
| 16:1979797:C:CA | donor_gain | 1.0000 |
| 16:1979840:T:TA | donor_gain | 1.0000 |
| 16:1979991:CCCTA:C | donor_loss | 1.0000 |
| 16:1979992:CCTA:C | donor_loss | 1.0000 |
| 16:1979993:CTA:C | donor_loss | 1.0000 |
| 16:1979994:TAC:T | donor_loss | 1.0000 |
| 16:1979995:A:AT | donor_loss | 1.0000 |
| 16:1979996:CCT:C | donor_loss | 1.0000 |
| 16:1980934:CTCA:C | donor_loss | 1.0000 |
| 16:1980935:TCA:T | donor_loss | 1.0000 |
| 16:1980936:CA:C | donor_loss | 1.0000 |
| 16:1980937:ACCTT:A | donor_loss | 1.0000 |
| 16:1979346:GTACC:G | acceptor_loss | 0.9900 |
| 16:1979349:CCTG:C | acceptor_loss | 0.9900 |
| 16:1979350:CT:C | acceptor_loss | 0.9900 |
| 16:1979351:T:A | acceptor_loss | 0.9900 |
| 16:1979543:C:G | acceptor_loss | 0.9900 |
| 16:1979544:T:A | acceptor_loss | 0.9900 |
| 16:1979669:T:TA | donor_gain | 0.9900 |
| 16:1979813:C:A | donor_gain | 0.9900 |
| 16:1979899:CCAGC:C | acceptor_gain | 0.9900 |
| 16:1979900:CAGC:C | acceptor_gain | 0.9900 |
| 16:1979900:CAGCC:C | acceptor_gain | 0.9900 |
AlphaMissense
2326 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:1979860:A:C | F215L | 0.988 |
| 16:1979860:A:T | F215L | 0.988 |
| 16:1979862:A:G | F215L | 0.988 |
| 16:1979861:A:G | F215S | 0.987 |
| 16:1979865:A:G | W214R | 0.980 |
| 16:1979865:A:T | W214R | 0.980 |
| 16:1979899:C:A | W202C | 0.978 |
| 16:1979899:C:G | W202C | 0.978 |
| 16:1981014:A:C | F24L | 0.978 |
| 16:1981014:A:T | F24L | 0.978 |
| 16:1981016:A:G | F24L | 0.978 |
| 16:1979898:A:G | W203R | 0.977 |
| 16:1979898:A:T | W203R | 0.977 |
| 16:1979901:A:G | W202R | 0.976 |
| 16:1979901:A:T | W202R | 0.976 |
| 16:1980076:G:C | F174L | 0.975 |
| 16:1980076:G:T | F174L | 0.975 |
| 16:1980078:A:G | F174L | 0.975 |
| 16:1980414:G:C | F123L | 0.975 |
| 16:1980414:G:T | F123L | 0.975 |
| 16:1980416:A:G | F123L | 0.975 |
| 16:1980998:A:G | W30R | 0.974 |
| 16:1980998:A:T | W30R | 0.974 |
| 16:1980046:A:C | F184L | 0.972 |
| 16:1980046:A:T | F184L | 0.972 |
| 16:1980048:A:G | F184L | 0.972 |
| 16:1980711:G:C | F56L | 0.972 |
| 16:1980711:G:T | F56L | 0.972 |
| 16:1980713:A:G | F56L | 0.972 |
| 16:1980951:G:C | F45L | 0.970 |
dbSNP variants (sampled 300 via entrez): RS1000521284 (16:1982785 C>T), RS1001437970 (16:1982394 G>A,C), RS1002240340 (16:1978958 C>G,T), RS1002509390 (16:1982895 G>A), RS1002841948 (16:1979724 T>G), RS1003626090 (16:1981566 C>G,T), RS1005019398 (16:1982203 C>T), RS1005615981 (16:1983322 T>A,G), RS1005823288 (16:1978974 G>A,T), RS1006132607 (16:1980002 G>A,T), RS1007214113 (16:1982345 CCTT>C), RS1007837378 (16:1980852 G>T), RS1008102961 (16:1980211 G>A), RS1008445243 (16:1980430 G>A,C), RS1008587307 (16:1978782 C>G,T)
Disease associations
OMIM: gene MIM:611256 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002404_333 | Red cell distribution width | 2.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5291596 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.70 | Kd | 2 | nM | CHEMBL5271171 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 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 |
|---|---|---|---|---|
| 3-[2-[[1-[3-[2-[2-[2-[2-[5-[(3aR,4R,6aS)-2-oxo-1,3,3a,4,6,6a-hexahydrothieno[3,4-d]imidazol-4-yl]pentanoylamino]ethoxy]ethoxy]ethoxy]ethoxy]propanoyl]piperidin-4-yl]methylamino]phenyl]benzamide | 1955023: Inhibition of 6His tagged NOXO1 (149 to 286 residues) (unknown origin) expressed in Escherichia coli BL21 (DE3) assessed as apparent dissociation constant at 800 uM by isothermal titration calorimetry | kd | 0.0020 | uM |
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Vehicle Emissions | decreases expression, decreases reaction | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Particulate Matter | decreases expression, decreases reaction, increases abundance, increases expression | 2 |
| methyleugenol | decreases expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| jinfukang | decreases expression | 1 |
| prothioconazole | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tetradecanoylphorbol Acetate | affects reaction, increases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5259024 | Binding | Inhibition of 6His tagged NOXO1 (149 to 286 residues) (unknown origin) expressed in Escherichia coli BL21 (DE3) assessed as apparent dissociation constant at 800 uM by isothermal titration calorimetry | Identification of a Noxo1 inhibitor by addition of a polyethylene glycol chain. — Bioorg Med Chem |
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.