OTUD3
gene geneOn this page
Also known as KIAA0459DUBA4
Summary
OTUD3 (OTU deubiquitinase 3, HGNC:29038) is a protein-coding gene on chromosome 1p36.13, encoding OTU domain-containing protein 3 (Q5T2D3). Deubiquitinating enzyme that hydrolyzes ‘Lys-6’- and ‘Lys-11’-linked polyubiquitin.
Enables cysteine-type deubiquitinase activity. Involved in cellular response to nutrient levels and protein deubiquitination. Acts upstream of or within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; protein deubiquitination; and protein stabilization. Located in cytoplasm. Is active in nucleus.
Source: NCBI Gene 23252 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 47 total
- Druggable target: yes
- MANE Select transcript:
NM_015207
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29038 |
| Approved symbol | OTUD3 |
| Name | OTU deubiquitinase 3 |
| Location | 1p36.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0459, DUBA4 |
| Ensembl gene | ENSG00000169914 |
| Ensembl biotype | protein_coding |
| OMIM | 611758 |
| Entrez | 23252 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000375120, ENST00000466697, ENST00000481686, ENST00000880253, ENST00000880254, ENST00000916790, ENST00000916791
RefSeq mRNA: 1 — MANE Select: NM_015207
NM_015207
CCDS: CCDS41279
Canonical transcript exons
ENST00000375120 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001160073 | 19906432 | 19906616 |
| ENSE00001181367 | 19907570 | 19912945 |
| ENSE00001263611 | 19904891 | 19904987 |
| ENSE00001465814 | 19904267 | 19904398 |
| ENSE00001465815 | 19897540 | 19897662 |
| ENSE00001465817 | 19890385 | 19890533 |
| ENSE00001465818 | 19882395 | 19882734 |
| ENSE00003572026 | 19894368 | 19894480 |
Expression profiles
Bgee: expression breadth ubiquitous, 218 present calls, max score 96.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.4127 / max 159.4089, expressed in 1770 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1085 | 13.4127 | 1770 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 96.58 | gold quality |
| secondary oocyte | CL:0000655 | 95.66 | gold quality |
| right uterine tube | UBERON:0001302 | 85.16 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.71 | gold quality |
| body of uterus | UBERON:0009853 | 84.04 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.26 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 83.17 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.07 | gold quality |
| cerebellar cortex | UBERON:0002129 | 83.04 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 82.95 | gold quality |
| cerebellum | UBERON:0002037 | 81.66 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 80.94 | gold quality |
| left ovary | UBERON:0002119 | 80.79 | gold quality |
| calcaneal tendon | UBERON:0003701 | 80.53 | gold quality |
| left testis | UBERON:0004533 | 80.33 | gold quality |
| right testis | UBERON:0004534 | 80.33 | gold quality |
| ectocervix | UBERON:0012249 | 80.31 | gold quality |
| testis | UBERON:0000473 | 80.24 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 80.19 | gold quality |
| right ovary | UBERON:0002118 | 80.10 | gold quality |
| endocervix | UBERON:0000458 | 79.88 | gold quality |
| lower esophagus | UBERON:0013473 | 79.83 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 79.83 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 79.68 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 79.60 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 79.18 | gold quality |
| ovary | UBERON:0000992 | 79.03 | gold quality |
| left adrenal gland | UBERON:0001234 | 78.88 | gold quality |
| sural nerve | UBERON:0015488 | 78.76 | gold quality |
| rectum | UBERON:0001052 | 78.71 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | yes | 230.04 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
142 targeting OTUD3, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
Literature-anchored findings (GeneRIF, showing 12)
- Single-nucleotide polymorphism in OTUD3 gene is associated with ulcerative colitis. (PMID:23511034)
- OTUD3 is an essential regulator of PTEN and the OTUD3-PTEN signalling axis plays a critical role in tumour suppression. (PMID:26280536)
- Knockdown of OTUD3 results in a decrease in the level of GRP78 protein, suppression of cell growth and migration, and tumorigenesis in lung cancer. (PMID:31266968)
- MicroRNA 32 promotes cell proliferation, migration, and suppresses apoptosis in colon cancer cells by targeting OTU domain containing 3. (PMID:31338872)
- Ubiquitin ligase CHIP regulates OTUD3 stability and suppresses tumour metastasis in lung cancer. (PMID:32483383)
- Tumor suppressor OTUD3 induces growth inhibition and apoptosis by directly deubiquitinating and stabilizing p53 in invasive breast carcinoma cells. (PMID:32571254)
- Acetylation-Dependent Deubiquitinase OTUD3 Controls MAVS Activation in Innate Antiviral Immunity. (PMID:32679077)
- miR-520h Stimulates Drug Resistance to Paclitaxel by Targeting the OTUD3-PTEN Axis in Breast Cancer. (PMID:32775453)
- The deubiquitinase OTUD3 stabilizes ACTN4 to drive growth and metastasis of hepatocellular carcinoma. (PMID:34380780)
- Nicotine-mediated OTUD3 downregulation inhibits VEGF-C mRNA decay to promote lymphatic metastasis of human esophageal cancer. (PMID:34853315)
- Silencing of LncRNA SNHG6 protects trophoblast cells through regulating miR-101-3p/OTUD3 axis in unexplained recurrent spontaneous abortion. (PMID:36173586)
- Prevalence and clinical characteristics of T2DM patients with OTUD3 gene rs78466831 SNP at a single academic center in China. (PMID:36531510)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | otud3 | ENSDARG00000022648 |
| mus_musculus | Otud3 | ENSMUSG00000041161 |
| rattus_norvegicus | Otud3 | ENSRNOG00000017037 |
| drosophila_melanogaster | otu | FBGN0003023 |
| drosophila_melanogaster | CG3251 | FBGN0031622 |
Paralogs (5): OTUD5 (ENSG00000068308), OTUD6B (ENSG00000155100), OTUD4 (ENSG00000164164), OTUD1 (ENSG00000165312), OTUD6A (ENSG00000189401)
Protein
Protein identifiers
OTU domain-containing protein 3 — Q5T2D3 (reviewed: Q5T2D3)
All UniProt accessions (1): Q5T2D3
UniProt curated annotations — full annotation on UniProt →
Function. Deubiquitinating enzyme that hydrolyzes ‘Lys-6’- and ‘Lys-11’-linked polyubiquitin. Also hydrolyzes heterotypic (mixed and branched) and homotypic chains. Important regulator of energy metabolism. Glucose and fatty acids trigger its nuclear translocation by CBP-dependent acetylation. In the nucleus, deubiquitinates and stabilizes the nuclear receptor PPARD regulating the expression of various genes involved in glucose and lipid metabolism and oxidative phosphorylation. Also acts as a negative regulator of the ribosome quality control (RQC) by mediating deubiquitination of 40S ribosomal proteins RPS10/eS10 and RPS20/uS10, thereby antagonizing ZNF598-mediated 40S ubiquitination.
Subcellular location. Cytoplasm. Nucleus.
Post-translational modifications. Glucose and fatty acids stimulate CREBBP-dependent acetylation, promoting its nuclear translocation.
Domain organisation. The UBA-like domain has no influence on ubiquitin hydrolysis. Specificity is given by the S1’ ubiquitin-binding site within the OTU domain composed of the Cys-, His- and Variable-loops.
RefSeq proteins (1): NP_056022* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003323 | OTU_dom | Domain |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR050704 | Peptidase_C85-like | Family |
Pfam: PF02338
UniProt features (41 total): modified residue 8, helix 7, strand 6, region of interest 5, compositionally biased region 3, active site 3, sequence variant 3, domain 2, mutagenesis site 2, chain 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4BOU | X-RAY DIFFRACTION | 1.55 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T2D3-F1 | 71.34 | 0.29 |
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 (3): 73; 76 (nucleophile); 182
Post-translational modifications (8): 66, 105, 122, 129, 220, 224, 292, 322
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 76 | abolished deubiquitinase activity. |
| 178–181 | impaired activity. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689896 | Ovarian tumor domain proteases |
| R-HSA-8948751 | Regulation of PTEN stability and activity |
MSigDB gene sets: 115 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, WANG_CLIM2_TARGETS_UP, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, MODULE_205, GOBP_NEGATIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOBP_PROTEIN_STABILIZATION, LIAO_METASTASIS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_PROTEIN_K48_LINKED_DEUBIQUITINATION
GO Biological Process (13): proteolysis (GO:0006508), protein deubiquitination (GO:0016579), cellular response to nutrient levels (GO:0031669), protein K11-linked deubiquitination (GO:0035871), protein K6-linked deubiquitination (GO:0044313), protein stabilization (GO:0050821), negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898), protein K48-linked deubiquitination (GO:0071108), protein K27-linked deubiquitination (GO:1990167), regulation of transcription by RNA polymerase II (GO:0006357), ribosome disassembly (GO:0032790), rescue of stalled cytosolic ribosome (GO:0072344), energy homeostasis (GO:0097009)
GO Molecular Function (5): cysteine-type deubiquitinase activity (GO:0004843), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Deubiquitination | 1 |
| PTEN Regulation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein deubiquitination | 4 |
| cellular anatomical structure | 2 |
| protein metabolic process | 1 |
| cysteine-type deubiquitinase activity | 1 |
| protein modification by small protein removal | 1 |
| response to nutrient levels | 1 |
| cellular response to stimulus | 1 |
| regulation of protein stability | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| organelle disassembly | 1 |
| cytoplasmic translational elongation | 1 |
| ribosome disassembly | 1 |
| multicellular organismal-level homeostasis | 1 |
| cysteine-type peptidase activity | 1 |
| deubiquitinase activity | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
2214 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OTUD3 | OTUB1 | Q96FW1 | 746 |
| OTUD3 | OTULIN | Q96BN8 | 717 |
| OTUD3 | ZRANB1 | Q9UGI0 | 713 |
| OTUD3 | OTUD7B | Q6GQQ9 | 692 |
| OTUD3 | YOD1 | Q5VVQ6 | 671 |
| OTUD3 | USP2 | O75604 | 662 |
| OTUD3 | OTUD7A | Q8TE49 | 652 |
| OTUD3 | OTUB2 | Q96DC9 | 633 |
| OTUD3 | ZUP1 | Q96AP4 | 631 |
| OTUD3 | RNF186 | Q9NXI6 | 620 |
| OTUD3 | OTUD4 | Q01804 | 615 |
| OTUD3 | ZNF598 | Q86UK7 | 615 |
| OTUD3 | UCHL3 | P15374 | 595 |
| OTUD3 | PTEN | P60484 | 555 |
| OTUD3 | PLA2G2E | Q9NZK7 | 523 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KPTN | OTUD3 | psi-mi:“MI:0915”(physical association) | 0.640 |
| PTEN | OTUD3 | psi-mi:“MI:0915”(physical association) | 0.590 |
| OTUD3 | PTEN | psi-mi:“MI:0915”(physical association) | 0.590 |
| HSD17B14 | OTUD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OTUD3 | HSD17B14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OTUD3 | ITFG2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OTUD3 | OTUD3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| OTUD3 | KICS2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| OTUD3 | MLF1 | psi-mi:“MI:0914”(association) | 0.350 |
| OTUD3 | GNAT3 | psi-mi:“MI:0914”(association) | 0.350 |
| OTUD3 | MIB1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (147): OTUD3 (Affinity Capture-Western), OTUD3 (Reconstituted Complex), PTEN (Affinity Capture-Western), PTEN (Biochemical Activity), OTUD3 (Affinity Capture-Western), OTUD3 (Reconstituted Complex), UBC (Biochemical Activity), OTUD3 (Affinity Capture-RNA), OTUD3 (Reconstituted Complex), OTUD3 (Two-hybrid), MYH9 (Affinity Capture-MS), YBX1 (Affinity Capture-MS), DHX9 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), IRS4 (Affinity Capture-MS)
ESM2 similar proteins: A6QR44, B1AZ99, B2RUR8, E1C213, E7F6T8, F4K3M6, O70523, O94988, P35922, P42331, P51114, P51115, P51116, P55265, Q06787, Q12789, Q155Q3, Q1LZ89, Q2TBT7, Q3B8D4, Q3ULM0, Q53NI2, Q5BJ56, Q5T2D3, Q5ZLY0, Q61584, Q63505, Q69Z66, Q6GQQ9, Q6PFK1, Q75LL6, Q7TN31, Q80WE1, Q86XL3, Q8BYW1, Q8CDG3, Q8CF97, Q8K284, Q8N302, Q8TEW8
Diamond homologs: B1AZ99, F4K3M6, P22856, Q5T2D3, Q9D8C3, B2RRE7, P10383, Q01804, Q08BW0, Q2YDU3, Q3U2S4, Q640H3, Q6GL44, Q7ZX21, Q96G74, Q9NP73, Q9XIP2, Q0V869, Q5ZIP6, Q6IE21, Q7L8S5, Q8LBW2, Q196X6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1726 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:19882664:G:GT | donor_gain | 1.0000 |
| 1:19882691:C:G | donor_gain | 1.0000 |
| 1:19882712:C:G | donor_gain | 1.0000 |
| 1:19882718:G:GT | donor_gain | 1.0000 |
| 1:19882718:G:T | donor_gain | 1.0000 |
| 1:19890529:GCATG:G | donor_gain | 1.0000 |
| 1:19894363:T:G | acceptor_gain | 1.0000 |
| 1:19894366:A:AG | acceptor_gain | 1.0000 |
| 1:19894367:G:GA | acceptor_gain | 1.0000 |
| 1:19897531:T:A | acceptor_gain | 1.0000 |
| 1:19897535:TACA:T | acceptor_loss | 1.0000 |
| 1:19897537:C:G | acceptor_gain | 1.0000 |
| 1:19897537:CA:C | acceptor_loss | 1.0000 |
| 1:19897538:A:AG | acceptor_gain | 1.0000 |
| 1:19897538:A:T | acceptor_loss | 1.0000 |
| 1:19897539:G:GT | acceptor_gain | 1.0000 |
| 1:19897539:GA:G | acceptor_gain | 1.0000 |
| 1:19897539:GAT:G | acceptor_gain | 1.0000 |
| 1:19897539:GATT:G | acceptor_gain | 1.0000 |
| 1:19897539:GATTC:G | acceptor_gain | 1.0000 |
| 1:19897658:CGGAT:C | donor_gain | 1.0000 |
| 1:19897659:GGAT:G | donor_gain | 1.0000 |
| 1:19897659:GGATG:G | donor_gain | 1.0000 |
| 1:19897660:GAT:G | donor_gain | 1.0000 |
| 1:19897660:GATG:G | donor_gain | 1.0000 |
| 1:19897661:AT:A | donor_gain | 1.0000 |
| 1:19897663:G:GA | donor_loss | 1.0000 |
| 1:19897663:G:GG | donor_gain | 1.0000 |
| 1:19897664:T:G | donor_loss | 1.0000 |
| 1:19897665:G:GG | donor_loss | 1.0000 |
AlphaMissense
2655 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:19890389:T:C | C76R | 1.000 |
| 1:19890395:T:C | F78L | 1.000 |
| 1:19890396:T:C | F78S | 1.000 |
| 1:19890397:C:A | F78L | 1.000 |
| 1:19890397:C:G | F78L | 1.000 |
| 1:19890450:G:C | R96T | 1.000 |
| 1:19890500:T:C | F113L | 1.000 |
| 1:19890502:T:A | F113L | 1.000 |
| 1:19890502:T:G | F113L | 1.000 |
| 1:19894394:T:C | F133L | 1.000 |
| 1:19894396:T:A | F133L | 1.000 |
| 1:19894396:T:G | F133L | 1.000 |
| 1:19897613:T:A | V186D | 1.000 |
| 1:19882707:T:C | L65P | 0.999 |
| 1:19882731:A:T | D73V | 0.999 |
| 1:19882733:G:T | G74C | 0.999 |
| 1:19882734:G:A | G74D | 0.999 |
| 1:19882734:G:T | G74V | 0.999 |
| 1:19890388:T:A | N75K | 0.999 |
| 1:19890388:T:G | N75K | 0.999 |
| 1:19890390:G:A | C76Y | 0.999 |
| 1:19890391:C:G | C76W | 0.999 |
| 1:19890395:T:A | F78I | 0.999 |
| 1:19890395:T:G | F78V | 0.999 |
| 1:19890396:T:G | F78C | 0.999 |
| 1:19890399:G:C | R79T | 0.999 |
| 1:19890399:G:T | R79I | 0.999 |
| 1:19890402:C:A | A80D | 0.999 |
| 1:19890411:A:C | D83A | 0.999 |
| 1:19890451:A:C | R96S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000159544 (1:19887390 C>G,T), RS1000250696 (1:19904142 G>A,T), RS1000379440 (1:19893955 C>T), RS1000401320 (1:19912351 C>A,T), RS1000456536 (1:19880899 G>A), RS1000469321 (1:19898451 G>A), RS1000494449 (1:19892541 A>G), RS1000574528 (1:19904936 A>G), RS1000590298 (1:19899548 A>G), RS1000642814 (1:19906347 C>G,T), RS1000759610 (1:19910422 A>G), RS1000778701 (1:19910955 C>T), RS1000839287 (1:19912132 T>A,G), RS1000985739 (1:19904521 A>G), RS1001055611 (1:19881236 A>C)
Disease associations
OMIM: gene MIM:611758 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000311_4 | Ulcerative colitis | 5.000000e-13 |
| GCST000527_9 | Ulcerative colitis | 2.000000e-11 |
| GCST000623_1 | Ulcerative colitis | 9.000000e-22 |
| GCST000624_1 | Ulcerative colitis | 3.000000e-08 |
| GCST000624_11 | Ulcerative colitis | 2.000000e-10 |
| GCST000624_21 | Ulcerative colitis | 2.000000e-21 |
| GCST001938_4 | Ulcerative colitis | 7.000000e-09 |
| GCST004131_40 | Inflammatory bowel disease | 1.000000e-19 |
| GCST004133_1 | Ulcerative colitis | 3.000000e-42 |
| GCST008260_12 | Group IIA secretory phospholipase A2 levels in individuals with elevated hsCRP | 2.000000e-11 |
| GCST008260_13 | Group IIA secretory phospholipase A2 levels in individuals with elevated hsCRP | 1.000000e-09 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4630831 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 1 |
| Cisplatin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects cotreatment, decreases expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Aflatoxin B1 | affects expression | 1 |
| Volatile Organic Compounds | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4605997 | Binding | Inhibition of human GST-tagged OTUD3 expressed in Escherichia coli assessed as cleavage of Ubiquitin-Rhodamine110-glycine to Ubiquitin and Rhodamine110-glycine using Ubiquitin-Rhodamine110-glycine as substrate by fluorescence based analysis | Discovery of Potent, Selective, and Orally Bioavailable Inhibitors of USP7 with In Vivo Antitumor Activity. — J Med Chem |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TB72 | HAP1 OTUD3 (-) 1 | Cancer cell line | Male |
| CVCL_TB73 | HAP1 OTUD3 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.