NOXA1
geneOn this page
Also known as NY-CO-31FLJ25475
Summary
NOXA1 (NADPH oxidase activator 1, HGNC:10668) is a protein-coding gene on chromosome 9q34.3, encoding NADPH oxidase activator 1 (Q86UR1). Functions as an activator of NOX1, a superoxide-producing NADPH oxidase.
This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 10811 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 111 total — 1 pathogenic
- MANE Select transcript:
NM_001256067
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10668 |
| Approved symbol | NOXA1 |
| Name | NADPH oxidase activator 1 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NY-CO-31, FLJ25475 |
| Ensembl gene | ENSG00000188747 |
| Ensembl biotype | protein_coding |
| OMIM | 611255 |
| Entrez | 10811 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 19 protein_coding, 1 nonsense_mediated_decay
ENST00000341349, ENST00000392815, ENST00000683555, ENST00000683683, ENST00000684693, ENST00000881438, ENST00000881439, ENST00000881440, ENST00000881441, ENST00000881442, ENST00000881443, ENST00000881444, ENST00000881445, ENST00000881446, ENST00000881447, ENST00000967001, ENST00000967002, ENST00000967003, ENST00000967004, ENST00000967005
RefSeq mRNA: 3 — MANE Select: NM_001256067
NM_001256067, NM_001256068, NM_006647
CCDS: CCDS59157, CCDS7042, CCDS94544
Canonical transcript exons
ENST00000683555 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001368295 | 137433965 | 137434079 |
| ENSE00001370635 | 137429276 | 137429383 |
| ENSE00001375925 | 137430784 | 137430843 |
| ENSE00001376829 | 137426248 | 137426330 |
| ENSE00001377770 | 137433205 | 137433263 |
| ENSE00001378246 | 137428033 | 137428141 |
| ENSE00001378982 | 137433453 | 137433607 |
| ENSE00001380548 | 137433029 | 137433074 |
| ENSE00001381232 | 137433750 | 137433864 |
| ENSE00001382733 | 137431075 | 137431100 |
| ENSE00001382964 | 137428882 | 137429016 |
| ENSE00001383989 | 137431236 | 137431341 |
| ENSE00003919708 | 137434224 | 137434406 |
| ENSE00003920959 | 137423393 | 137423706 |
Expression profiles
Bgee: expression breadth ubiquitous, 229 present calls, max score 99.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.5364 / max 68.7528, expressed in 1137 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99696 | 5.5364 | 1137 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.34 | silver quality |
| mucosa of transverse colon | UBERON:0004991 | 93.21 | gold quality |
| right uterine tube | UBERON:0001302 | 93.04 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.14 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.56 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.21 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.93 | gold quality |
| pituitary gland | UBERON:0000007 | 90.20 | gold quality |
| transverse colon | UBERON:0001157 | 89.96 | gold quality |
| nucleus accumbens | UBERON:0001882 | 89.67 | gold quality |
| body of pancreas | UBERON:0001150 | 89.32 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.28 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.07 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 88.97 | silver quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.50 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.21 | gold quality |
| mucosa of stomach | UBERON:0001199 | 88.18 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.16 | gold quality |
| caudate nucleus | UBERON:0001873 | 88.12 | gold quality |
| putamen | UBERON:0001874 | 88.01 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.98 | gold quality |
| kidney epithelium | UBERON:0004819 | 87.98 | silver quality |
| hypothalamus | UBERON:0001898 | 87.97 | gold quality |
| body of stomach | UBERON:0001161 | 87.84 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 87.75 | gold quality |
| left ovary | UBERON:0002119 | 87.41 | gold quality |
| minor salivary gland | UBERON:0001830 | 87.09 | gold quality |
| metanephros | UBERON:0000081 | 87.06 | gold quality |
| cerebellum | UBERON:0002037 | 87.06 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.94 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.58 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
Literature-anchored findings (GeneRIF, showing 19)
- These studies demonstrate that, in reconstituted NOX1/NOXO1/NOXA1 systems, the NOXA1 SH3 domain is not required for function but, when present, can critically modulate the activity of the enzyme system. (PMID:17602954)
- PKA-phosphorylated NoxA1 is a new binding partner of 14-3-3 protein; this forms the basis of a novel mechanism regulating the formation of ROS by Nox1 and, potentially, other NoxA1-regulated Nox family members (PMID:17913709)
- Essential role of NOXA1 in generation of reacgtive oxygen species induced by oxidized low density lipoprotein in endothelial cells is reported. (PMID:18568954)
- a novel, inhibitory function for Noxa1 in Duox1 regulation. (PMID:18606821)
- NoxA1 is the functional homolog of p67phox in vascular smooth muscle cells (VSMC) that regulates redox signaling and VSMC phenotype. (PMID:20083677)
- these results demonstrate that phosphorylation of NoxA1 is a part of the feedback mechanism that functions through activation of Rac with a net outcome of negative modulation of Nox1 activity. (PMID:20230789)
- The first quantitative characterization of the interactions made between the cytosolic regulators NOXO1 and NOXA1 and membrane-bound p22(phox), is presented. (PMID:20454568)
- Tks4 and Tks5 directly bind to NoxA1. The integrity of the N-terminal PRR of NoxA1 is essential for this direct interaction with the Tks proteins. (PMID:20609497)
- The Nox1-dependent generation of reactive oxygen species is dependent on Src phosphorylation of NoxA1 and Tks4. Blockage of phosphorylation of NoxA1 and Tks4 decreases Nox1-dependent ROS generation and blocks SrcYF-induced invadopodia formation. (PMID:20943948)
- Noxa1 has quite different kinetic properties from p67(phox) and suggest that Noxa1 may function as a moderate activator of Nox2. (PMID:22244833)
- Phosphorylation of Thr341 allows Noxo1 to sufficiently interact with Noxa1, an interaction that participates in Nox1 activation (PMID:23957209)
- A NOXA1 peptide blocked NOXA1-Nox1 binding. The finding identifies a NOXA1-activating domain and an isoform-specific Nox1 inhibitor. (PMID:24187133)
- 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)
- both caspase-8-dependent and -independent apoptotic mechanisms are activated in triple-negative breast cancer cells undergoing sustained endoplasmic reticulum stress. (PMID:29374147)
- mitochondrial targeting domain peptide induces necrotic cell death by interaction with the VDAC2 protein. (PMID:31285435)
- These results identify NOXA mRNA destabilization/MCL-1 adaptation as a non-genomic mechanism that limits apoptotic responses. (PMID:31727958)
- MARCH5-dependent degradation of MCL1/NOXA complexes defines susceptibility to antimitotic drug treatment. (PMID:32015503)
- MARCH5 requires MTCH2 to coordinate proteasomal turnover of the MCL1:NOXA complex. (PMID:32094511)
- The Novel Histone Deacetylase Inhibitor, OBP-801, Induces Apoptosis in Rhabdoid Tumors by Releasing the Silencing of NOXA. (PMID:32847975)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | noxa1 | ENSDARG00000056047 |
| mus_musculus | Noxa1 | ENSMUSG00000036805 |
| rattus_norvegicus | Noxa1 | ENSRNOG00000009286 |
Paralogs (1): NCF2 (ENSG00000116701)
Protein
Protein identifiers
NADPH oxidase activator 1 — Q86UR1 (reviewed: Q86UR1)
Alternative names: Antigen NY-CO-31, NCF2-like protein, P67phox-like factor, p51-nox
All UniProt accessions (3): Q86UR1, A0A804HIB1, A0A804HJ29
UniProt curated annotations — full annotation on UniProt →
Function. Functions as an activator of NOX1, a superoxide-producing NADPH oxidase. Functions in the production of reactive oxygen species (ROS) which participate in a variety of biological processes including host defense, hormone biosynthesis, oxygen sensing and signal transduction. May also activate CYBB/gp91phox and NOX3.
Subunit / interactions. NOX1, NOXA1, NOXO1, RAC1 and CYBA forms a functional multimeric complex supporting ROS production. Interaction with YWHAZ prevents the interaction of NOXA1 with NOXO1 and RAC1 and its targeting to membranes, hence reducing its ability to activate NOX1. Interacts (via N-terminus) with SH3PXD2A and SH3PXD2B; the interaction is direct. Interacts with NCF1. Interacts with RAC1. Interacts with NOXO1. Interacts with NOX1.
Subcellular location. Cytoplasm. Cell membrane.
Tissue specificity. Widely expressed. Detected in pancreas, liver, kidney, spleen, prostate, small intestine and colon.
Post-translational modifications. Interaction with YWHAZ depends on phosphorylation by PKA.
Domain organisation. The SH3 domain mediates interaction with NOXO1 and NCF1 and has autoregulatory function. The TPR repeats mediate interaction with RAC1.
Miscellaneous. Mostly inactive for NOX1 activation. Does not interact with NOXO1. Inactive for NOX1 activation.
Similarity. Belongs to the NCF2/NOXA1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86UR1-1 | 1 | yes |
| Q86UR1-2 | 2 | |
| Q86UR1-3 | 3, NOXA1inhib |
RefSeq proteins (3): NP_001242996, NP_001242997, NP_006638 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000270 | PB1_dom | Domain |
| IPR001452 | SH3_domain | Domain |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR051864 | NCF2_NOXA1 | Family |
| IPR053793 | PB1-like | Domain |
Pfam: PF00018, PF00564
UniProt features (46 total): sequence conflict 13, mutagenesis site 10, strand 5, repeat 4, compositionally biased region 2, modified residue 2, splice variant 2, sequence variant 2, domain 2, region of interest 2, chain 1, helix 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7CFZ | X-RAY DIFFRACTION | 1.89 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UR1-F1 | 73.23 | 0.34 |
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 (2): 172, 461
Mutagenesis-validated functional residues (10):
| Position | Phenotype |
|---|---|
| 34 | partial loss of function. |
| 37 | partial loss of function. |
| 68 | loss of function and loss of interaction with rac1. |
| 103 | loss of function and loss of interaction with rac1. loss of localization to membranes. |
| 172 | loss of phosphorylation. loss of interaction with yhawz; when associated with a-461. |
| 172 | constitutively interacts with ywhaz; when associated with e-461. |
| 205 | unable to activate nox2. |
| 436 | loss of interaction with noxo1 and ncf1. loss of localization to membranes. partial loss of function. |
| 461 | loss of phosphorylation. loss of interaction with yhawz; when associated with a-172. |
| 461 | constitutively interacts with ywhaz; when associated with e-172. |
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: 94 (showing top):
GOBP_REGULATION_OF_RESPIRATORY_BURST, GOBP_SUPEROXIDE_METABOLIC_PROCESS, GOMF_GTPASE_BINDING, COUP_01, GOBP_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOBP_RESPIRATORY_BURST, GOBP_SUPEROXIDE_ANION_GENERATION, GOBP_HYDROGEN_PEROXIDE_METABOLIC_PROCESS, GOBP_REGULATION_OF_HYDROGEN_PEROXIDE_METABOLIC_PROCESS, GOBP_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, KOKKINAKIS_METHIONINE_DEPRIVATION_48HR_DN, KOKKINAKIS_METHIONINE_DEPRIVATION_96HR_DN, GOCC_OXIDOREDUCTASE_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_PLASMA_MEMBRANE_PROTEIN_COMPLEX
GO Biological Process (4): superoxide metabolic process (GO:0006801), regulation of hydrogen peroxide metabolic process (GO:0010310), superoxide anion generation (GO:0042554), regulation of respiratory burst (GO:0060263)
GO Molecular Function (6): superoxide-generating NADPH oxidase activator activity (GO:0016176), SH3 domain binding (GO:0017124), enzyme binding (GO:0019899), small GTPase binding (GO:0031267), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (5): cytosol (GO:0005829), NADPH oxidase complex (GO:0043020), cytoplasm (GO:0005737), plasma membrane (GO:0005886), 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 |
|---|---|
| cellular anatomical structure | 3 |
| protein binding | 2 |
| reactive oxygen species metabolic process | 1 |
| hydrogen peroxide metabolic process | 1 |
| regulation of reactive oxygen species metabolic process | 1 |
| superoxide metabolic process | 1 |
| regulation of metabolic process | 1 |
| respiratory burst | 1 |
| enzyme activator activity | 1 |
| superoxide-generating NADPH oxidase activity | 1 |
| protein domain specific binding | 1 |
| GTPase binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| plasma membrane protein complex | 1 |
| oxidoreductase complex | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
672 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOXA1 | CYBA | P13498 | 999 |
| NOXA1 | NCF1 | P14598 | 999 |
| NOXA1 | NOXO1 | Q8NFA2 | 999 |
| NOXA1 | NOX1 | Q9Y5S8 | 998 |
| NOXA1 | NCF4 | Q15080 | 995 |
| NOXA1 | NCF2 | P19878 | 985 |
| NOXA1 | CYBB | P04839 | 977 |
| NOXA1 | NOX3 | Q9HBY0 | 971 |
| NOXA1 | RAC2 | P15153 | 941 |
| NOXA1 | AKT1 | P31749 | 920 |
| NOXA1 | NOX4 | Q9NPH5 | 837 |
| NOXA1 | NOX5 | Q96PH1 | 808 |
| NOXA1 | DUOXA1 | Q1HG43 | 775 |
| NOXA1 | DUOX1 | Q9NRD9 | 756 |
| NOXA1 | SH3PXD2B | A1X283 | 746 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RIMBP3 | NOXA1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NOXA1 | RIMBP3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NOXA1 | NOXO1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| NOXA1 | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NOXA1 | NOXO1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NOXO1 | NOXA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RHOU | NOXA1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NOXA1 | E6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CACNA1A | NOXA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EP300 | NOXA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NOXO1 | SOD1 | psi-mi:“MI:0914”(association) | 0.350 |
| NOXA1 | YWHAZ | psi-mi:“MI:0914”(association) | 0.350 |
| NOXA1 | ugpB3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PRKCG | NOXA1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (64): RIMBP3 (Two-hybrid), NOXA1 (Biochemical Activity), NOXA1 (Two-hybrid), NOXA1 (Reconstituted Complex), NOXA1 (Affinity Capture-RNA), NOXA1 (Two-hybrid), NOXA1 (Two-hybrid), NOXA1 (Two-hybrid), NOXA1 (Two-hybrid), NOXA1 (Two-hybrid), NOXA1 (Two-hybrid), NOXA1 (Two-hybrid), NOXA1 (Two-hybrid), NOXA1 (Two-hybrid), NOXA1 (Two-hybrid)
ESM2 similar proteins: A1L515, A4D2P6, A6QQD2, A8VU90, E1BDF2, O75808, O88995, P0CG25, P22083, Q0IIA6, Q2TA57, Q3B7L1, Q3MIP1, Q3U5Q7, Q3UR50, Q3UR97, Q3UV16, Q400G9, Q5BKX5, Q5EBM0, Q5GH72, Q5SZI1, Q5TM19, Q5U4P2, Q62994, Q659K9, Q6PRD1, Q7Z736, Q861W0, Q86UR1, Q8BNN1, Q8C0R7, Q8CG70, Q8IUW3, Q8IVL6, Q8N398, Q8NAG6, Q8NCW0, Q8R2H1, Q8VCE9
Diamond homologs: A1CEK6, A1DFN5, A2QW93, A4FU49, A4RF61, A7A261, A7E3N7, D3ZG83, F1LRS8, O42287, O55043, O60504, O94868, P10569, P19878, P29355, P32793, P38753, P39743, P43603, P49710, P52735, P62993, P62994, P80192, P87379, Q02779, Q06449, Q07883, Q08012, Q08DN7, Q0CJU8, Q0U6X7, Q14155, Q15811, Q16584, Q1E878, Q1KKW7, Q1KKZ1, Q2GT05
SIGNOR signaling
17 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAPK1 | down-regulates | NOXA1 | phosphorylation |
| PRKACA | down-regulates | NOXA1 | phosphorylation |
| PRKCA | down-regulates | NOXA1 | phosphorylation |
| MAPK3 | down-regulates | NOXA1 | phosphorylation |
| SRC | up-regulates | NOXA1 | phosphorylation |
| NOXA1 | “down-regulates activity” | BCL2 | |
| TP53 | “up-regulates quantity by expression” | NOXA1 | “transcriptional regulation” |
| SH3PXD2B | “up-regulates activity” | NOXA1 | binding |
| SH3PXD2A | “up-regulates activity” | NOXA1 | binding |
| NOXO1 | “up-regulates activity” | NOXA1 | relocalization |
| NOXA1 | “up-regulates activity” | NOX1 | binding |
| NOXA1 | “up-regulates activity” | NOX3 | binding |
| PKA | “down-regulates activity” | NOXA1 | phosphorylation |
| Gbeta | down-regulates | NOXA1 | phosphorylation |
| ERK1/2 | down-regulates | NOXA1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
111 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 83 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3238701 | GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727) | Pathogenic |
SpliceAI
2500 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:137426245:CAGGC:C | acceptor_loss | 1.0000 |
| 9:137426246:AGGC:A | acceptor_loss | 1.0000 |
| 9:137426247:GGC:G | acceptor_gain | 1.0000 |
| 9:137426326:GCAAG:G | donor_gain | 1.0000 |
| 9:137426328:AAG:A | donor_gain | 1.0000 |
| 9:137426328:AAGG:A | donor_loss | 1.0000 |
| 9:137426329:AG:A | donor_gain | 1.0000 |
| 9:137426330:GG:G | donor_gain | 1.0000 |
| 9:137426330:GGT:G | donor_loss | 1.0000 |
| 9:137426331:G:GG | donor_gain | 1.0000 |
| 9:137428121:TTC:T | donor_gain | 1.0000 |
| 9:137428137:GGGAG:G | donor_gain | 1.0000 |
| 9:137428138:GGAGG:G | donor_gain | 1.0000 |
| 9:137428139:G:GT | donor_gain | 1.0000 |
| 9:137428139:G:T | donor_gain | 1.0000 |
| 9:137428143:T:G | donor_loss | 1.0000 |
| 9:137430839:CACAG:C | donor_loss | 1.0000 |
| 9:137430840:ACAG:A | donor_loss | 1.0000 |
| 9:137430842:AGG:A | donor_loss | 1.0000 |
| 9:137430844:GTGG:G | donor_loss | 1.0000 |
| 9:137430845:T:G | donor_loss | 1.0000 |
| 9:137431233:TAGGT:T | acceptor_loss | 1.0000 |
| 9:137431234:A:AC | acceptor_loss | 1.0000 |
| 9:137431234:A:AG | acceptor_gain | 1.0000 |
| 9:137431235:G:GA | acceptor_gain | 1.0000 |
| 9:137431235:GGT:G | acceptor_gain | 1.0000 |
| 9:137431235:GGTC:G | acceptor_gain | 1.0000 |
| 9:137431235:GGTCC:G | acceptor_gain | 1.0000 |
| 9:137431340:AG:A | donor_loss | 1.0000 |
| 9:137431341:GGTG:G | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000026528 (9:137429745 T>A,C), RS1000306736 (9:137434545 C>T), RS1000345084 (9:137425216 T>C), RS1000425176 (9:137434695 A>C), RS1000893816 (9:137426396 C>A,G,T), RS1000921871 (9:137432737 C>T), RS1000945725 (9:137426697 C>T), RS1001071446 (9:137422957 T>C), RS1001534838 (9:137423317 G>A), RS1001541461 (9:137427715 C>A), RS1001674453 (9:137430063 C>G,T), RS1001694961 (9:137428644 A>C,T), RS1001705491 (9:137428780 A>C,G), RS1001923666 (9:137422271 AG>A), RS1002379244 (9:137433725 C>A,T)
Disease associations
OMIM: gene MIM:611255 | disease phenotypes: MIM:610253
GenCC curated gene-disease
Mondo (1): Kleefstra syndrome 1 (MONDO:0027407)
Orphanet (1): Kleefstra syndrome (Orphanet:261494)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003487_15 | Response to fenofibrate (total cholesterol levels) | 4.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007806 | total cholesterol change measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C563043 | Kleefstra Syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | decreases expression, affects cotreatment | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases expression | 1 |
| decabromobiphenyl ether | affects expression | 1 |
| arsenite | decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | increases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Rotenone | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Valproic Acid | decreases expression, increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Gold Compounds | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TA89 | HAP1 NOXA1 (-) 1 | Cancer cell line | Male |
| CVCL_TA90 | HAP1 NOXA1 (-) 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): Kleefstra syndrome 1