OTUD1
gene geneOn this page
Also known as DUBA7
Summary
OTUD1 (OTU deubiquitinase 1, HGNC:27346) is a protein-coding gene on chromosome 10p12.2, encoding OTU domain-containing protein 1 (Q5VV17). Deubiquitinating enzyme that specifically hydrolyzes ‘Lys-63’-linked polyubiquitin to monoubiquitin.
Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.
Source: NCBI Gene 220213 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 47 total
- Druggable target: yes
- MANE Select transcript:
NM_001145373
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27346 |
| Approved symbol | OTUD1 |
| Name | OTU deubiquitinase 1 |
| Location | 10p12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DUBA7 |
| Ensembl gene | ENSG00000165312 |
| Ensembl biotype | protein_coding |
| OMIM | 612022 |
| Entrez | 220213 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000376495
RefSeq mRNA: 1 — MANE Select: NM_001145373
NM_001145373
CCDS: CCDS44366
Canonical transcript exons
ENST00000376495 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001470704 | 23439075 | 23442377 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 99.04.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.0039 / max 1820.4470, expressed in 1735 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 104286 | 16.3323 | 1276 |
| 104283 | 4.5806 | 1357 |
| 104284 | 3.6197 | 1267 |
| 104281 | 1.5631 | 686 |
| 104285 | 1.1121 | 592 |
| 104282 | 0.4968 | 248 |
| 104287 | 0.2993 | 159 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 99.04 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.98 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.46 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.79 | silver quality |
| upper arm skin | UBERON:0004263 | 97.72 | gold quality |
| kidney epithelium | UBERON:0004819 | 97.12 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.92 | silver quality |
| amniotic fluid | UBERON:0000173 | 96.91 | gold quality |
| oviduct epithelium | UBERON:0004804 | 96.83 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.48 | gold quality |
| myocardium | UBERON:0002349 | 95.19 | gold quality |
| upper leg skin | UBERON:0004262 | 94.95 | gold quality |
| vena cava | UBERON:0004087 | 94.75 | gold quality |
| body of tongue | UBERON:0011876 | 94.42 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.10 | gold quality |
| bronchus | UBERON:0002185 | 93.94 | gold quality |
| superior surface of tongue | UBERON:0007371 | 93.74 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 93.72 | gold quality |
| tongue | UBERON:0001723 | 93.69 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.65 | gold quality |
| parietal pleura | UBERON:0002400 | 93.46 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.99 | gold quality |
| lower lobe of lung | UBERON:0008949 | 92.78 | gold quality |
| quadriceps femoris | UBERON:0001377 | 92.68 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 92.52 | gold quality |
| mammary duct | UBERON:0001765 | 92.50 | gold quality |
| synovial joint | UBERON:0002217 | 92.38 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.31 | gold quality |
| nipple | UBERON:0002030 | 92.26 | gold quality |
| bone marrow cell | CL:0002092 | 92.18 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 13.35 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
166 targeting OTUD1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
Literature-anchored findings (GeneRIF, showing 15)
- OTU domain-containing protein 1 deubiquitinating enzyme is differentially expressed in thyroid cancer. (PMID:24937664)
- these results suggest that OTUD1 is a novel regulator of p53 stability and activity. (PMID:28216291)
- OTU deubiquitinase 1 (OTUD1) directly deubiquitinates Smad7 Protein (SMAD7) and prevents its degradation. (PMID:29235476)
- Report that YAP is subject to non-proteolytic, K63-linked polyubiquitination by the SCF(SKP2) E3 ligase complex (SKP2), which is reversed by the deubiquitinase OTUD1. The non-proteolytic ubiquitination of YAP enhances its interaction with its nuclear binding partner TEAD, thereby inducing YAP’s nuclear localization, transcriptional activity, and growth-promoting function. (PMID:29891922)
- The data demonstrate that OTUD1 is involved in maintaining immune homeostasis and loss-of-function mutations of OTUD1 enhance the immune response and are associated with autoimmunity. (PMID:30100102)
- we report the establishment of OTUD1-specific monoclonal antibodies (mAbs), using the rat medial iliac lymph node method. The generated antibodies recognize the N-terminal portion (aa. 1-290) of human and mouse OTUD1 proteins (PMID:30130141)
- OTUD1 Negatively Regulates Type I IFN Induction by Disrupting Noncanonical Ubiquitination of IRF3. (PMID:32075857)
- The deubiquitinase OTUD1 enhances iron transport and potentiates host antitumor immunity. (PMID:33393230)
- OTUD1 Activates Caspase-Independent and Caspase-Dependent Apoptosis by Promoting AIF Nuclear Translocation and MCL1 Degradation. (PMID:33898171)
- Melatonin induces apoptotic cell death through Bim stabilization by Sp1-mediated OTUD1 upregulation. (PMID:34826170)
- OTUD1 deubiquitinase regulates NF-kappaB- and KEAP1-mediated inflammatory responses and reactive oxygen species-associated cell death pathways. (PMID:35941131)
- The deubiquitinase OTUD1 regulates immunoglobulin production and proteasome inhibitor sensitivity in multiple myeloma. (PMID:36357400)
- The deubiquitinase OTUD1 noncanonically suppresses Akt activation through its N-terminal intrinsically disordered region. (PMID:36640312)
- The Deubiquitinase OTUD1 Suppresses Secretory Neutrophil Polarization And Ameliorates Immunopathology of Periodontitis. (PMID:37639212)
- The deubiquitinase OTUD1 deubiquitinates TIPE2 and plays a protective role in sepsis-induced lung injury by targeting TAK1-mediated MAPK and NF-kappaB signaling. (PMID:38996928)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | otud1 | ENSDARG00000100872 |
| mus_musculus | Otud1 | ENSMUSG00000043415 |
| rattus_norvegicus | Otud1 | ENSRNOG00000016950 |
| drosophila_melanogaster | otu | FBGN0003023 |
| drosophila_melanogaster | CG3251 | FBGN0031622 |
Paralogs (5): OTUD5 (ENSG00000068308), OTUD6B (ENSG00000155100), OTUD4 (ENSG00000164164), OTUD3 (ENSG00000169914), OTUD6A (ENSG00000189401)
Protein
Protein identifiers
OTU domain-containing protein 1 — Q5VV17 (reviewed: Q5VV17)
Alternative names: DUBA-7
All UniProt accessions (1): Q5VV17
UniProt curated annotations — full annotation on UniProt →
Function. Deubiquitinating enzyme that specifically hydrolyzes ‘Lys-63’-linked polyubiquitin to monoubiquitin. Required for the stability and translation of a subset mRNAs with a high abundance of rare codons by mediating deubiquitination of 40S ribosomal protein RPS10/eS10, thereby antagonizing ZNF598-mediated 40S ubiquitination. The abundance of rare codons in mRNAs can limit the translation rate and can lead to ribosome collisions that trigger activation of ribosome quality control (RQC) pathway by ZNF598. OTUD1-mediated deubiquitination prevents activation of the RQC and subsequent dissociation of ribosomes and stimulates formation of polysomes and translation.
Domain organisation. The UIM repeat increases the specificity and efficiency of the enzyme toward ‘Lys-63’-linked polyubiquitin. Specificity is not given by the S1’ ubiquitin-binding site within the OTU domain (composed of the Cys-, His- and Variable-loops).
RefSeq proteins (1): NP_001138845* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003323 | OTU_dom | Domain |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR047834 | OTUD1_OTU | Domain |
| IPR050704 | Peptidase_C85-like | Family |
Pfam: PF02338
UniProt features (30 total): helix 8, strand 6, region of interest 5, compositionally biased region 3, active site 3, domain 2, chain 1, mutagenesis site 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4BOP | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VV17-F1 | 62.49 | 0.40 |
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): 317; 320 (nucleophile); 431
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 320 | abolished deubiquitinase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-5357786 | TNFR1-induced proapoptotic signaling |
| R-HSA-5357905 | Regulation of TNFR1 signaling |
| R-HSA-5357956 | TNFR1-induced NF-kappa-B signaling pathway |
MSigDB gene sets: 181 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, FOSTER_TOLERANT_MACROPHAGE_UP, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_PROTEIN_K63_LINKED_DEUBIQUITINATION, chr10p12, GOBP_PROTEOLYSIS, GEORGES_TARGETS_OF_MIR192_AND_MIR215
GO Biological Process (3): proteolysis (GO:0006508), protein K63-linked deubiquitination (GO:0070536), protein deubiquitination (GO:0016579)
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 (0):
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| TNF signaling | 3 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein metabolic process | 1 |
| protein deubiquitination | 1 |
| cysteine-type deubiquitinase activity | 1 |
| protein modification by small protein removal | 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 |
Protein interactions and networks
STRING
810 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OTUD1 | ZUP1 | Q96AP4 | 927 |
| OTUD1 | YOD1 | Q5VVQ6 | 690 |
| OTUD1 | OTUD6A | Q7L8S5 | 659 |
| OTUD1 | OTUB1 | Q96FW1 | 656 |
| OTUD1 | OTUB2 | Q96DC9 | 636 |
| OTUD1 | OTULIN | Q96BN8 | 626 |
| OTUD1 | OTUD7B | Q6GQQ9 | 602 |
| OTUD1 | OTUD4 | Q01804 | 598 |
| OTUD1 | OTUD6B | Q8N6M0 | 586 |
| OTUD1 | ZRANB1 | Q9UGI0 | 533 |
| OTUD1 | JOSD1 | Q15040 | 504 |
| OTUD1 | USP17L2 | Q6R6M4 | 496 |
| OTUD1 | OTUD7A | Q8TE49 | 476 |
| OTUD1 | USP49 | Q70CQ1 | 476 |
| OTUD1 | JOSD2 | Q8TAC2 | 476 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RIPK2 | OTUD1 | psi-mi:“MI:0915”(physical association) | 0.460 |
| RIPK2 | OTUD1 | psi-mi:“MI:0403”(colocalization) | 0.460 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| OTUD1 | LOC392787 | psi-mi:“MI:0914”(association) | 0.350 |
| USP11 | PRRC2B | psi-mi:“MI:0914”(association) | 0.350 |
| OTUD1 | ppdK | psi-mi:“MI:0915”(physical association) | 0.000 |
| OTUD1 | rpiA2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| OTUD1 | ahpC | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (235): OTUD1 (Affinity Capture-MS), TP53 (Affinity Capture-Western), OTUD1 (Affinity Capture-Western), OTUD1 (Reconstituted Complex), SMAD7 (Reconstituted Complex), OTUD1 (Reconstituted Complex), OTUD1 (Affinity Capture-Western), SMAD7 (Biochemical Activity), YAP1 (Affinity Capture-Western), OTUD1 (Affinity Capture-Western), YAP1 (Reconstituted Complex), YAP1 (Biochemical Activity), OTUD1 (Affinity Capture-Western), SMURF1 (Affinity Capture-Western), SMURF1 (Co-localization)
ESM2 similar proteins: A6NKL6, A6NNE9, A6P320, D3YYI7, E9Q0B3, F5H4A9, O60346, P0C1G7, P0C7U0, P0DPB3, P39881, P53349, Q0P496, Q13233, Q147X3, Q2TBI2, Q3TZ87, Q49LS4, Q52L14, Q5GH59, Q5GH67, Q5GH76, Q5VV17, Q62925, Q66JB6, Q6NS60, Q80TE3, Q86VE0, Q86YJ5, Q8BGW2, Q8CBH7, Q8R554, Q8TC41, Q8TE49, Q8TF61, Q96EP1, Q96SQ7, Q99MX7, Q99NA2, Q9BXQ6
Diamond homologs: B2RRE7, Q01804, Q08BW0, Q2YDU3, Q3U2S4, Q5VV17, Q640H3, Q6GL44, Q7ZX21, Q96G74, Q9CUB6, Q9LZF7, Q9VR20, Q9XIP2, F4K3M6, Q9NP73, Q9SGA5, P10383, Q9D8C3
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 | 40 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
45 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:23439691:CTTCG:C | acceptor_gain | 0.6400 |
| 10:23439695:G:T | acceptor_gain | 0.6200 |
| 10:23439700:G:GA | donor_gain | 0.5000 |
| 10:23439604:GACCG:G | donor_gain | 0.4200 |
| 10:23439699:T:TA | donor_gain | 0.4100 |
| 10:23440406:GAC:G | acceptor_gain | 0.4100 |
| 10:23439694:CG:C | acceptor_gain | 0.4000 |
| 10:23439692:TTCG:T | acceptor_gain | 0.3700 |
| 10:23440405:A:AG | acceptor_gain | 0.3700 |
| 10:23440406:G:GG | acceptor_gain | 0.3700 |
| 10:23440405:AGAC:A | acceptor_gain | 0.3400 |
| 10:23440406:GACG:G | acceptor_gain | 0.3400 |
| 10:23439609:G:GG | donor_gain | 0.3200 |
| 10:23439693:TCG:T | acceptor_gain | 0.3000 |
| 10:23439605:ACCGG:A | donor_loss | 0.2800 |
| 10:23439606:CCG:C | donor_loss | 0.2800 |
| 10:23439607:CG:C | donor_loss | 0.2800 |
| 10:23439608:GG:G | donor_loss | 0.2800 |
| 10:23439609:GTG:G | donor_loss | 0.2800 |
| 10:23439610:T:TA | donor_loss | 0.2800 |
| 10:23439611:G:GC | donor_loss | 0.2800 |
| 10:23439612:A:AT | donor_loss | 0.2800 |
| 10:23439613:G:T | donor_loss | 0.2800 |
| 10:23439607:C:CA | donor_gain | 0.2700 |
| 10:23440341:CCG:C | acceptor_gain | 0.2500 |
| 10:23440249:C:A | acceptor_gain | 0.2400 |
| 10:23439644:G:T | donor_gain | 0.2300 |
| 10:23440398:T:G | acceptor_loss | 0.2300 |
| 10:23440401:TTCCA:T | acceptor_loss | 0.2300 |
| 10:23440402:TCCAG:T | acceptor_loss | 0.2300 |
AlphaMissense
3097 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:23440406:G:C | D317H | 1.000 |
| 10:23440407:A:T | D317V | 1.000 |
| 10:23440410:G:A | G318D | 1.000 |
| 10:23440410:G:T | G318V | 1.000 |
| 10:23440415:T:C | C320R | 1.000 |
| 10:23440416:G:A | C320Y | 1.000 |
| 10:23440417:C:G | C320W | 1.000 |
| 10:23440425:G:C | R323P | 1.000 |
| 10:23440427:G:C | A324P | 1.000 |
| 10:23440428:C:A | A324D | 1.000 |
| 10:23440431:T:A | V325D | 1.000 |
| 10:23440476:G:C | R340T | 1.000 |
| 10:23440476:G:T | R340M | 1.000 |
| 10:23440477:G:C | R340S | 1.000 |
| 10:23440477:G:T | R340S | 1.000 |
| 10:23440518:T:C | F354S | 1.000 |
| 10:23440550:T:C | F365L | 1.000 |
| 10:23440552:T:A | F365L | 1.000 |
| 10:23440552:T:G | F365L | 1.000 |
| 10:23440580:T:A | W375R | 1.000 |
| 10:23440580:T:C | W375R | 1.000 |
| 10:23440638:T:C | L394S | 1.000 |
| 10:23440728:T:C | L424P | 1.000 |
| 10:23440730:A:C | S425R | 1.000 |
| 10:23440732:T:A | S425R | 1.000 |
| 10:23440732:T:G | S425R | 1.000 |
| 10:23440733:T:A | W426R | 1.000 |
| 10:23440733:T:C | W426R | 1.000 |
| 10:23440737:T:C | L427P | 1.000 |
| 10:23440746:G:A | G430E | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000356051 (10:23442014 C>T), RS1000744107 (10:23441211 C>A), RS1001691884 (10:23438424 C>T), RS1002021735 (10:23442762 T>A), RS1002028788 (10:23437127 G>C), RS1002642445 (10:23439058 G>A,T), RS1002684380 (10:23439349 G>C), RS1003020674 (10:23440269 C>A,G,T), RS1003617692 (10:23441803 C>T), RS1003870886 (10:23441839 G>A,C), RS1004096318 (10:23441453 C>T), RS1004287409 (10:23438443 T>C), RS1004430744 (10:23437499 T>A,C), RS1004487178 (10:23441546 T>G), RS1004890406 (10:23440773 C>G,T)
Disease associations
OMIM: gene MIM:612022 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001957_8 | Obesity (early onset extreme) | 1.000000e-07 |
| GCST007277_14 | Tourette syndrome | 6.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4630832 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
57 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Air Pollutants | decreases expression, affects expression, increases abundance | 2 |
| Benzo(a)pyrene | increases expression, decreases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| hydroxyhydroquinone | increases expression | 1 |
| methylparaben | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| ferrous chloride | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression | 1 |
| avobenzone | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Ethanol | decreases expression | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4605996 | Binding | Inhibition of human 6His-tagged OTUD1 CD (270 to 481 residues) expressed in Escherichia coli assessed as cleavage of Ubiquitin-Rhodamine110-glycine to Ubiquitin and Rhodamine110-glycine using Ubiquitin-Rhodamine110-glycine as substrate by f | 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_TB70 | HAP1 OTUD1 (-) 1 | Cancer cell line | Male |
| CVCL_TB71 | HAP1 OTUD1 (-) 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.