OAZ1
gene geneOn this page
Also known as AZIMGC138338AZ1
Summary
OAZ1 (ornithine decarboxylase antizyme 1, HGNC:8095) is a protein-coding gene on chromosome 19p13.3, encoding Ornithine decarboxylase antizyme 1 (P54368). Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels.
The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene.
Source: NCBI Gene 4946 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 3 total
- Druggable target: yes
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8095 |
| Approved symbol | OAZ1 |
| Name | ornithine decarboxylase antizyme 1 |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AZI, MGC138338, AZ1 |
| Ensembl gene | ENSG00000104904 |
| Ensembl biotype | protein_coding |
| OMIM | 601579 |
| Entrez | 4946 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 7 retained_intron, 7 protein_coding, 6 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined
ENST00000581150, ENST00000582888, ENST00000586054, ENST00000588673, ENST00000589361, ENST00000589739, ENST00000590943, ENST00000592727, ENST00000592787, ENST00000593012, ENST00000602676, ENST00000718416, ENST00000718417, ENST00000718418, ENST00000718419, ENST00000718420, ENST00000718421, ENST00000718422, ENST00000718423, ENST00000718424, ENST00000718425, ENST00000718426, ENST00000718427
RefSeq mRNA: 2 — MANE Select: None
NM_001301020, NM_004152
CCDS: CCDS58639, CCDS77214
Canonical transcript exons
ENST00000581150 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001282935 | 2269520 | 2269744 |
| ENSE00002695659 | 2271385 | 2271954 |
| ENSE00002708908 | 2272972 | 2273221 |
| ENSE00003694400 | 2272735 | 2272820 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9915 / max 135.1089, expressed in 1728 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 173070 | 2.5983 | 963 |
| 173075 | 2.0841 | 1101 |
| 173074 | 1.4201 | 929 |
| 173071 | 0.3260 | 139 |
| 173073 | 0.2893 | 97 |
| 173072 | 0.2736 | 123 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pons | UBERON:0000988 | 99.91 | gold quality |
| blood | UBERON:0000178 | 99.89 | gold quality |
| pylorus | UBERON:0001166 | 99.87 | gold quality |
| monocyte | CL:0000576 | 99.86 | gold quality |
| mononuclear cell | CL:0000842 | 99.86 | gold quality |
| renal medulla | UBERON:0000362 | 99.86 | gold quality |
| cardia of stomach | UBERON:0001162 | 99.86 | gold quality |
| parietal lobe | UBERON:0001872 | 99.86 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.86 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.86 | gold quality |
| adult organism | UBERON:0007023 | 99.86 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.86 | gold quality |
| parotid gland | UBERON:0001831 | 99.85 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 99.85 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 99.85 | gold quality |
| leukocyte | CL:0000738 | 99.84 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.84 | gold quality |
| synovial joint | UBERON:0002217 | 99.83 | gold quality |
| ventral tegmental area | UBERON:0002691 | 99.83 | gold quality |
| vena cava | UBERON:0004087 | 99.83 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.83 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.82 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 99.81 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 99.81 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 99.81 | gold quality |
| pericardium | UBERON:0002407 | 99.81 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.81 | gold quality |
| superior surface of tongue | UBERON:0007371 | 99.81 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.81 | gold quality |
| entorhinal cortex | UBERON:0002728 | 99.79 | gold quality |
Single-cell (SCXA)
Detected in 31 experiment(s), a significant marker in 20.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-149689 | yes | 11172.09 |
| E-HCAD-9 | yes | 2377.95 |
| E-HCAD-4 | yes | 272.88 |
| E-HCAD-1 | yes | 114.98 |
| E-CURD-122 | yes | 81.96 |
| E-MTAB-6701 | yes | 73.66 |
| E-GEOD-135922 | yes | 59.24 |
| E-CURD-88 | yes | 55.20 |
| E-MTAB-8410 | yes | 53.68 |
| E-HCAD-10 | yes | 48.82 |
| E-MTAB-10553 | yes | 42.53 |
| E-MTAB-9467 | yes | 40.42 |
| E-MTAB-8142 | yes | 35.93 |
| E-CURD-46 | yes | 34.43 |
| E-MTAB-10287 | yes | 28.60 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting OAZ1, 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-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
Literature-anchored findings (GeneRIF, showing 22)
- Human AZI is capable of acting as a general inhibitor for all members of the antizyme family. (PMID:15355308)
- Special polymorphism haplotype of OAZ gene is associated with Chinese systemic lupus erythematosus. OAZ may suggest a new pathway for lupus. (PMID:15476163)
- This study also suggests that highly expressed AZI may be partly responsible for increased ODC activity and cellular transformation. (PMID:15670771)
- OAZ can alter the intensity and duration of the BMP4 stimulus through Smad6 (PMID:16373339)
- Ornithine decarboxylase antizyme 1 enhances the ability of UM1 human oral squamous cancer cells to repair DNA double-strand breaks by the nonhomologous end-joining pathway. (PMID:17630775)
- Identified the OAZ1+2222A/G polymorphism as a potential genetic marker of vascular events. (PMID:17761941)
- Yeast antizyme mediates degradation of yeast ornithine decarboxylase by yeast but not by mammalian proteasome: new insights on yeast antizyme (PMID:18089576)
- Data suggest that residue 331 may play a major role in the dimerization of AZI, and the mutating Ser-331 to Tyr in AZI (AZI-S331Y) caused a shift from a monomer configuration to a dimer. (PMID:19635796)
- These data together demonstrate the existence of a c-Jun-dependent mechanism regulating the abundance of the antiapoptotic DNp73 in response to genotoxic stress. (PMID:20185758)
- Data show that OAZ promotes the removal of Mps1 from centrosomes, and centrosome overproduction caused by reducing OAZ activity requires Mps1. (PMID:20861309)
- the differences in residues 125 and 140 in ODC and AZI are responsible for the differential antizyme-binding affinities (PMID:21552531)
- AZ_95-176 is the minimal AZ peptide that is fully functioning in the binding of ODC and AZI and inhibition of their function. (PMID:21931692)
- This study demomistrated that H3K4me3 modification plays an important role in up regulation of AOAZ1 in prefrontal cortex. (PMID:22008221)
- In the absence of amino acids, mTORC1 is inhibited, whereas mTORC2 is activated, leading to the inhibition of global protein synthesis and increased AZ1 synthesis via a cap-independent mechanism. (PMID:22157018)
- Gene expression studies have identified altered expression of ornithine decarboxylase antizyme 1 in suicide completers with a history of mood disorders. (PMID:23260169)
- To further understand its functions in CML pathogenesis, OAZ1 was overexpressed, and PCR array analysis was used to monitor the expression of key genes commonly involved in leukemia development. (PMID:24192781)
- the effects of AZ on cell growth are independent of polyamines. (PMID:24930035)
- Results show that ornithine decarboxylase antizyme 1 (OAZ1) simultaneously inhibits the proliferation and induces the differentiation of oral cancer cells. (PMID:25318549)
- Data show the the interplay between the enzyme ornithine decarboxylase (ODC) and two regulatory proteins: antizyme (Az) and inhibitor (AzIN). (PMID:26305948)
- Translation efficiency affects the sequence-independent +1 ribosomal frameshifting by polyamines. (PMID:32181810)
- EPLIN-beta is a novel substrate of ornithine decarboxylase antizyme 1 and mediates cellular migration. (PMID:37325974)
- antizyme expression requires programmed, ribosomal frameshifting (PMID:7813017)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | oaz1a | ENSDARG00000071403 |
| mus_musculus | Oaz1 | ENSMUSG00000035242 |
| rattus_norvegicus | Oaz1 | ENSRNOG00000019459 |
Paralogs (2): OAZ3 (ENSG00000143450), OAZ2 (ENSG00000180304)
Protein
Protein identifiers
Ornithine decarboxylase antizyme 1 — P54368 (reviewed: P54368)
All UniProt accessions (5): P54368, J3QQY4, K7EPM6, K7ERW1, Q2M222
UniProt curated annotations — full annotation on UniProt →
Function. Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimer, and targets the monomers for ubiquitin-independent proteolytic destruction by the 26S proteasome. Triggers ODC degradation by inducing the exposure of a cryptic proteasome-interacting surface of ODC. Stabilizes AZIN2 by interfering with its ubiquitination. Also inhibits cellular uptake of polyamines by inactivating the polyamine uptake transporter. SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol.
Subunit / interactions. Interacts with ODC1 and thereby sterically blocks ODC homodimerization. Forms a ternary complex with PSMB4 and OAZ1 before PSMB4 is incorporated into the 20S proteasome. Interacts with AZIN2; this interaction disrupts the interaction between the antizyme and ODC1. Interacts with FAM171A1.
Induction. Induced by a ribosomal frameshifting mechanism in response to increased levels of intracellular polyamines.
Similarity. Belongs to the ODC antizyme family.
Isoforms (1)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P54368-1 | 1 | yes |
RefSeq proteins (2): NP_001287949, NP_004143 (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002993 | ODC_AZ | Family |
| IPR016181 | Acyl_CoA_acyltransferase | Homologous_superfamily |
| IPR038581 | ODC_AZ_sf | Homologous_superfamily |
Pfam: PF02100
UniProt features (20 total): strand 9, sequence variant 5, helix 2, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4ZGY | X-RAY DIFFRACTION | 2.63 |
| 5BWA | X-RAY DIFFRACTION | 3.2 |
| 4ZGZ | X-RAY DIFFRACTION | 5.81 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P54368-F1 | 74.98 | 0.47 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-350562 | Regulation of ornithine decarboxylase (ODC) |
| R-HSA-351202 | Metabolism of polyamines |
MSigDB gene sets: 204 (showing top):
GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, MORF_UBE2I, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, HSIAO_HOUSEKEEPING_GENES, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, KYNG_DNA_DAMAGE_DN, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_POLYAMINE_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT
GO Biological Process (6): polyamine biosynthetic process (GO:0006596), positive regulation of protein catabolic process (GO:0045732), viral translational frameshifting (GO:0075523), positive regulation of intracellular protein transport (GO:0090316), negative regulation of polyamine transmembrane transport (GO:1902268), biogenic amine metabolic process (GO:0006576)
GO Molecular Function (2): ornithine decarboxylase inhibitor activity (GO:0008073), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of polyamines | 1 |
| Metabolism of amino acids and derivatives | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| polyamine metabolic process | 1 |
| biogenic amine biosynthetic process | 1 |
| positive regulation of catabolic process | 1 |
| protein catabolic process | 1 |
| regulation of protein catabolic process | 1 |
| positive regulation of protein metabolic process | 1 |
| viral process | 1 |
| viral translation | 1 |
| intracellular protein transport | 1 |
| positive regulation of intracellular transport | 1 |
| regulation of intracellular protein transport | 1 |
| positive regulation of protein transport | 1 |
| negative regulation of transmembrane transport | 1 |
| polyamine transmembrane transport | 1 |
| regulation of polyamine transmembrane transport | 1 |
| amine metabolic process | 1 |
| ornithine decarboxylase activity | 1 |
| enzyme inhibitor activity | 1 |
| ornithine decarboxylase regulator activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1144 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OAZ1 | ODC1 | P11926 | 970 |
| OAZ1 | AZIN1 | O14977 | 941 |
| OAZ1 | AZIN2 | Q96A70 | 907 |
| OAZ1 | RPL27 | P08526 | 716 |
| OAZ1 | EEF1G | P26641 | 672 |
| OAZ1 | ALAS1 | P13196 | 628 |
| OAZ1 | RPL37A | P12751 | 593 |
| OAZ1 | SAT1 | P21673 | 591 |
| OAZ1 | RPL19 | P14118 | 540 |
| OAZ1 | POLR1B | Q9H9Y6 | 537 |
| OAZ1 | ABCF1 | Q8NE71 | 521 |
| OAZ1 | POLR2A | P24928 | 506 |
| OAZ1 | GUSB | P08236 | 496 |
| OAZ1 | STC2 | O76061 | 479 |
| OAZ1 | RPS29 | P30054 | 477 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AZIN1 | OAZ2 | psi-mi:“MI:0914”(association) | 0.670 |
| OAZ1 | AZIN1 | psi-mi:“MI:0914”(association) | 0.640 |
| EGFR | OAZ1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| AZIN2 | OAZ2 | psi-mi:“MI:0914”(association) | 0.530 |
| AGTR1 | OAZ1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| OAZ1 | AGTR1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| OAZ1 | NLGN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OAZ1 | HTR2B | psi-mi:“MI:0915”(physical association) | 0.370 |
| OAZ1 | MYCBP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OAZ1 | PIAS4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| AZIN1 | KIF5C | psi-mi:“MI:0914”(association) | 0.350 |
| OAZ1 | YWHAG | psi-mi:“MI:0914”(association) | 0.350 |
| NRIP1 | OAZ1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ATXN1 | OAZ1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (47): TP73 (Affinity Capture-Western), OAZ1 (Affinity Capture-Western), OAZ1 (Affinity Capture-MS), AZIN1 (Reconstituted Complex), ODC1 (Reconstituted Complex), OAZ1 (Reconstituted Complex), GBE1 (Affinity Capture-MS), ODC1 (Affinity Capture-MS), UPF1 (Affinity Capture-MS), RAB7A (Affinity Capture-MS), TAF1B (Affinity Capture-MS), SRA1 (Affinity Capture-MS), CEPT1 (Affinity Capture-MS), CAMSAP2 (Affinity Capture-MS), AZIN1 (Affinity Capture-MS)
ESM2 similar proteins: A4VCH4, B4F7E8, G3V7Q0, O08608, O14795, O42148, O70585, O95190, P0C7A6, P42225, P50747, P54368, P55814, Q05AA6, Q0VGY8, Q13474, Q1LVW0, Q2KIM1, Q2KJ58, Q3TLI0, Q3UHE1, Q4KM45, Q56K12, Q5JSJ4, Q5R680, Q5VZK9, Q5XII8, Q62768, Q62769, Q6EDY6, Q6IQ26, Q6NYU2, Q6PAL8, Q6WKZ8, Q7SYD9, Q7ZXK3, Q80YV4, Q8BND4, Q8IWV8, Q8K2I9
Diamond homologs: A1BPI0, O08608, O42148, O95190, P54368, P54369, P54370, P55814, P70112, Q56K12, Q5R680, Q9R109, Q9UMX2, Q9YI97, Q9YI98, P54361, Q95P51, O44535, Q9NHZ5, Q9NHZ6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
3 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
973 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:2269740:GAGAG:G | donor_gain | 1.0000 |
| 19:2269741:AGAGG:A | donor_loss | 1.0000 |
| 19:2269742:GAG:G | donor_gain | 1.0000 |
| 19:2269743:AGGT:A | donor_loss | 1.0000 |
| 19:2269743:AGGTA:A | donor_loss | 1.0000 |
| 19:2269744:GGTA:G | donor_loss | 1.0000 |
| 19:2269745:G:C | donor_loss | 1.0000 |
| 19:2269745:G:GG | donor_gain | 1.0000 |
| 19:2269746:T:G | donor_loss | 1.0000 |
| 19:2271942:G:T | donor_gain | 1.0000 |
| 19:2272818:GAG:G | donor_gain | 1.0000 |
| 19:2272820:GGTA:G | donor_loss | 1.0000 |
| 19:2270581:G:T | donor_gain | 0.9900 |
| 19:2271951:ACAG:A | donor_loss | 0.9900 |
| 19:2271952:CAGG:C | donor_loss | 0.9900 |
| 19:2271953:AGGTG:A | donor_loss | 0.9900 |
| 19:2271954:GGT:G | donor_loss | 0.9900 |
| 19:2271955:G:A | donor_loss | 0.9900 |
| 19:2271956:T:G | donor_loss | 0.9900 |
| 19:2272821:G:GG | donor_gain | 0.9900 |
| 19:2272971:GCC:G | acceptor_gain | 0.9900 |
| 19:2273338:T:A | acceptor_gain | 0.9900 |
| 19:2269743:AG:A | donor_gain | 0.9800 |
| 19:2269744:GG:G | donor_gain | 0.9800 |
| 19:2270559:G:GT | donor_gain | 0.9800 |
| 19:2270581:G:GT | donor_gain | 0.9800 |
| 19:2271780:A:AG | acceptor_gain | 0.9800 |
| 19:2271781:G:GG | acceptor_gain | 0.9800 |
| 19:2271951:ACAGG:A | donor_loss | 0.9800 |
| 19:2271952:CAG:C | donor_loss | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000125788 (19:2268579 C>T), RS1000702754 (19:2273984 G>A), RS1000753675 (19:2273850 C>T), RS1000788561 (19:2271214 G>C), RS1001379209 (19:2272608 G>A,C), RS1001470952 (19:2272455 C>T), RS1001794141 (19:2270544 C>T), RS1002063347 (19:2273533 G>A), RS1002379952 (19:2269551 C>A,G,T), RS1002383762 (19:2273322 T>A), RS1002707370 (19:2269945 G>C), RS1002798937 (19:2269794 G>A,C,T), RS1003445015 (19:2267730 C>T), RS1003809057 (19:2269058 A>C,T), RS1004119323 (19:2269230 G>C,T)
Disease associations
OMIM: gene MIM:601579 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523241 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| pinosylvin | decreases expression | 1 |
| chloropicrin | decreases expression | 1 |
| deguelin | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| fenpyroximate | increases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | increases expression | 1 |
| pyrimidifen | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Doxorubicin | affects response to substance | 1 |
| Folic Acid | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Rotenone | increases expression | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Vinblastine | affects response to substance | 1 |
| Metribolone | affects splicing | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 2 binding, 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4324830 | ADMET | Substrate activity at OAZ1 in human DU145 cells assessed as enzyme-mediated drug uptake at 100 uM in presence of CHX after 4 hrs by HPLC method | Unforeseen Possibilities To Investigate the Regulation of Polyamine Metabolism Revealed by Novel C-Methylated Spermine Derivatives. — J Med Chem |
| CHEMBL4324857 | Binding | Induction of OAZ1 in human DU145 cells assessed as reduction in intracellular ODC activity at 10 uM in presence of CHX after 6 hrs by Western blot analysis relative to control | Unforeseen Possibilities To Investigate the Regulation of Polyamine Metabolism Revealed by Novel C-Methylated Spermine Derivatives. — J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3D2 | Abcam HEK293T OAZ1 KO | Transformed cell line | Female |
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.