PSMF1

gene
On this page

Also known as PI31

Summary

PSMF1 (proteasome inhibitor subunit 1, HGNC:9571) is a protein-coding gene on chromosome 20p13, encoding Proteasome inhibitor PI31 subunit (Q92530). Plays an important role in control of proteasome function. It is a selective cancer dependency (DepMap: 16.1% of cell lines).

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene.

Source: NCBI Gene 9491 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): complex neurodevelopmental disorder with motor features (Strong, GenCC)
  • GWAS associations: 3
  • Clinical variants (ClinVar): 69 total — 1 pathogenic
  • Cancer dependency (DepMap): dependent in 16.1% of screened cell lines
  • MANE Select transcript: NM_006814

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9571
Approved symbolPSMF1
Nameproteasome inhibitor subunit 1
Location20p13
Locus typegene with protein product
StatusApproved
AliasesPI31
Ensembl geneENSG00000125818
Ensembl biotypeprotein_coding
OMIM617858
Entrez9491

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000246015, ENST00000333082, ENST00000335877, ENST00000381898, ENST00000381899, ENST00000418246, ENST00000435720, ENST00000478004, ENST00000479715, ENST00000484891, ENST00000652336, ENST00000879396, ENST00000879397, ENST00000879398, ENST00000879399, ENST00000937764, ENST00000937765, ENST00000954240

RefSeq mRNA: 6 — MANE Select: NM_006814 NM_001323407, NM_001323408, NM_001323409, NM_001323410, NM_006814, NM_178578

CCDS: CCDS13010, CCDS82589

Canonical transcript exons

ENST00000335877 — 7 exons

ExonStartEnd
ENSE0000347152811254981125650
ENSE0000354568111274261127508
ENSE0000354753811650291172246
ENSE0000362874111631301163183
ENSE0000365996311643181164476
ENSE0000378894311351211135306
ENSE0000384189711186021118902

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 99.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 86.3669 / max 3292.3946, expressed in 1826 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter IDTPM avgSamples expressed
18307978.32571826
1830853.76731579
1830861.47661020
1830801.1178107
1830890.9777616
1830840.3434151
1830820.24554
1830770.08803
1830780.01174
1830750.01123

Top tissues by expression

303 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
spermCL:000001999.35gold quality
male germ cellCL:000001599.02gold quality
left testisUBERON:000453398.67gold quality
right testisUBERON:000453498.66gold quality
hindlimb stylopod muscleUBERON:000425297.63gold quality
bloodUBERON:000017897.55gold quality
gastrocnemiusUBERON:000138897.35gold quality
testisUBERON:000047397.34gold quality
popliteal arteryUBERON:000225097.28gold quality
tibial arteryUBERON:000761097.28gold quality
monocyteCL:000057697.18gold quality
islet of LangerhansUBERON:000000697.11gold quality
right coronary arteryUBERON:000162597.10gold quality
stromal cell of endometriumCL:000225597.07gold quality
muscle of legUBERON:000138396.98gold quality
ganglionic eminenceUBERON:000402396.97gold quality
leukocyteCL:000073896.96gold quality
mononuclear cellCL:000084296.95gold quality
bone marrow cellCL:000209296.90gold quality
aortaUBERON:000094796.84gold quality
left coronary arteryUBERON:000162696.65gold quality
mucosa of stomachUBERON:000119996.54gold quality
cortical plateUBERON:000534396.45gold quality
peripheral nervous systemUBERON:000001096.43gold quality
nerveUBERON:000102196.43gold quality
tibial nerveUBERON:000132396.43gold quality
endocervixUBERON:000045896.37gold quality
coronary arteryUBERON:000162196.37gold quality
ventricular zoneUBERON:000305396.36gold quality
thoracic aortaUBERON:000151596.34gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-GEOD-134144yes31.63
E-MTAB-9221yes11.05
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

216 targeting PSMF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-6758-5P100.0066.211470
HSA-MIR-6856-5P100.0065.471298
HSA-MIR-6851-5P100.0065.631294
HSA-MIR-3689D100.0066.141181
HSA-MIR-118499.9968.191458
HSA-MIR-607799.9968.042299
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-103A-3P99.9869.141595
HSA-MIR-10799.9869.141595
HSA-MIR-19A-3P99.9875.332762
HSA-MIR-19B-3P99.9875.442754
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-807599.9767.20962
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-512-3P99.9767.351049
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562
HSA-MIR-570-3P99.9672.414910
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-211099.9666.681930
HSA-MIR-146A-5P99.9668.93988
HSA-MIR-146B-5P99.9669.13977
HSA-MIR-7153-5P99.9468.891006
HSA-MIR-6721-5P99.9368.922981

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 16.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

  • a model for FP domain-mediated dimerization of SCF(Fbxo7) and PI31 (PMID:18495667)
  • cellular roles and mechanisms of PI31 in regulation of proteasome function remain unclear and require future definition. (PMID:24770418)
  • NOD2 and TLR2 Signal via TBK1 and PI31 to Direct Cross-Presentation and CD8 T Cell Responses. (PMID:31114588)
  • Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival. (PMID:33651148)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriopsmf1ENSDARG00000022652
mus_musculusPsmf1ENSMUSG00000032869
rattus_norvegicusPsmf1ENSRNOG00000009640
drosophila_melanogasterCG12729FBGN0029816
drosophila_melanogasterPI31FBGN0033669

Protein

Protein identifiers

Proteasome inhibitor PI31 subunitQ92530 (reviewed: Q92530)

All UniProt accessions (6): Q92530, A0A140VJT2, F5H4Z3, H0Y555, Q5QPM7, Q5QPM9

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28.

Subunit / interactions. Monomer and homodimer. Interacts with FBXO7. Interacts with the 20S proteasome.

Subcellular location. Cytoplasm. Endoplasmic reticulum.

Similarity. Belongs to the proteasome inhibitor PI31 family.

RefSeq proteins (6): NP_001310336, NP_001310337, NP_001310338, NP_001310339, NP_006805, NP_848693 (=MANE)

Domains & families (InterPro)

IDNameType
IPR013886PI31_Prot_CDomain
IPR021625PI31_Prot_NDomain
IPR045128PI31-likeFamily

Pfam: PF08577, PF11566

UniProt features (34 total): helix 7, strand 7, modified residue 6, turn 4, mutagenesis site 3, sequence variant 2, region of interest 2, initiator methionine 1, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDBMethodResolution (Å)
4OUHX-RAY DIFFRACTION2
2VT8X-RAY DIFFRACTION2.6

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q92530-F175.150.50

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 (6): 252, 2, 153, 205, 219, 231

Mutagenesis-validated functional residues (3):

PositionPhenotype
6abolishes homodimerization.
83abolishes interaction with fbxo7, but has no effect on homodimerization; when associated with e-90.
90abolishes interaction with fbxo7, but has no effect on homodimerization; when associated with e-83.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-9907900Proteasome assembly

MSigDB gene sets: 213 (showing top): GGGACCA_MIR133A_MIR133B, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, MORF_MSH3, KEGG_PROTEASOME, MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, ATGCAGT_MIR217, MORF_ESR1, CACCAGC_MIR138, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, EFC_Q6

GO Biological Process (3): ubiquitin-dependent protein catabolic process (GO:0006511), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), negative regulation of proteasomal protein catabolic process (GO:1901799)

GO Molecular Function (5): endopeptidase inhibitor activity (GO:0004866), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), proteasome binding (GO:0070628), protein binding (GO:0005515)

GO Cellular Component (7): endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), proteasome core complex (GO:0005839), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), proteasome complex (GO:0000502), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Post-translational protein modification1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
cytoplasm3
proteasomal protein catabolic process2
protein dimerization activity2
intracellular protein-containing complex2
protein ubiquitination1
modification-dependent protein catabolic process1
ubiquitin-dependent protein catabolic process1
negative regulation of protein catabolic process1
regulation of proteasomal protein catabolic process1
endopeptidase activity1
peptidase inhibitor activity1
endopeptidase regulator activity1
identical protein binding1
protein-containing complex binding1
binding1
endomembrane system1
intracellular membrane-bounded organelle1
proteasome complex1
catalytic complex1
endopeptidase complex1
intracellular anatomical structure1

Protein interactions and networks

STRING

1242 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PSMF1PSME4Q14997819
PSMF1PSME3P61289763
PSMF1FBXO7Q9Y3I1714
PSMF1PSMB10P40306553
PSMF1PSMG4Q5JS54540
PSMF1PSMD12O00232515
PSMF1PSMC4P43686508
PSMF1ECPASQ5VYK3506
PSMF1PSMB7Q99436501
PSMF1PSMD9O00233494
PSMF1PSMC6P49719489
PSMF1CDK6Q00534457
PSMF1PSMD4P55036453
PSMF1POMPQ9Y244453
PSMF1AMN1Q8IY45448

IntAct

140 interactions, top by confidence:

ABTypeScore
PSMA1PSMA7psi-mi:“MI:0914”(association)0.950
PSMF1FBXO7psi-mi:“MI:0915”(physical association)0.930
FBXO7PSMF1psi-mi:“MI:0915”(physical association)0.930
FBXO7SKP1psi-mi:“MI:0914”(association)0.900
PSMA2PSMA7psi-mi:“MI:0914”(association)0.850
PSMG2PSMG1psi-mi:“MI:0914”(association)0.850
PSMA5PSMA7psi-mi:“MI:0914”(association)0.800
PSMB7PSMA7psi-mi:“MI:0914”(association)0.790
PSMB2PSMA7psi-mi:“MI:0914”(association)0.790
NHERF2PODXLpsi-mi:“MI:0914”(association)0.770
PSMB3PSMA7psi-mi:“MI:0914”(association)0.770
PSMB2PSMD11psi-mi:“MI:0914”(association)0.730
PSMB4PSMA7psi-mi:“MI:0914”(association)0.730
PSMA7PSMF1psi-mi:“MI:0915”(physical association)0.660
PSMF1PSMA7psi-mi:“MI:0914”(association)0.660
PSMB3PSMD11psi-mi:“MI:0914”(association)0.640
PSMB7PSMD11psi-mi:“MI:0914”(association)0.640
PSMF1PSMB1psi-mi:“MI:0914”(association)0.640
PSMB1PSMA7psi-mi:“MI:0914”(association)0.640

BioGRID (171): FBXO7 (Two-hybrid), PSMA2 (Reconstituted Complex), PSMA2 (Co-fractionation), PSMF1 (Reconstituted Complex), PSMC1 (Reconstituted Complex), PSMD8 (Reconstituted Complex), PSMC3 (Reconstituted Complex), PSMD4 (Co-fractionation), HIST1H1A (Affinity Capture-MS), PSMA1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS)

ESM2 similar proteins: B0BN56, F4J077, F7C1E2, O00165, O35387, O35723, O54946, O75190, P12812, P25686, P58340, P70302, P84903, Q04757, Q08A72, Q0IHF9, Q13586, Q15773, Q22472, Q28C44, Q2KIE2, Q2TBE0, Q32KY3, Q3SX30, Q58CP9, Q5F3Z5, Q5R4T3, Q5R8H0, Q5XIU5, Q61733, Q68EU0, Q6AX41, Q6AYU3, Q6GNW0, Q7TSE9, Q80UP5, Q862Z4, Q8BHL8, Q8H1E8, Q8IZ07

Diamond homologs: Q3SX30, Q5RDN3, Q5XIU5, Q8BHL8, Q92530

SIGNOR signaling

3 interactions.

AEffectBMechanism
PSMF1“down-regulates activity”“26S Proteasome”binding
TNKS2“down-regulates quantity by destabilization”PSMF1ADP-ribosylation
TNKS“down-regulates quantity by destabilization”PSMF1ADP-ribosylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 87 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Antigen processing: Ub, ATP-independent proteasomal degradation1195.2×2e-19
Proteasome assembly2061.8×2e-29
Vpu mediated degradation of CD41560.4×2e-22
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis1660.2×2e-23
GSK3B and BTRC:CUL1-mediated-degradation of NFE2L21660.2×2e-23
Regulation of activated PAK-2p34 by proteasome mediated degradation1459.1×6e-21
SCF-beta-TrCP mediated degradation of Emi11657.7×2e-23
Degradation of DVL1657.7×2e-23

GO biological processes:

GO termPartnersFoldFDR
regulation of alternative mRNA splicing, via spliceosome514.9×4e-03
proteasome-mediated ubiquitin-dependent protein catabolic process2012.7×3e-14

Disease & clinical

Clinical variants and AI predictions

ClinVar

69 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance47
Likely benign4
Benign2

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
4820252GRCh37/hg19 20p13(chr20:61568-1700861)x1Pathogenic

SpliceAI

1670 predictions. Top by Δscore:

VariantEffectΔscore
20:1118858:G:GTdonor_gain1.0000
20:1118858:G:Tdonor_gain1.0000
20:1125481:AACT:Aacceptor_gain1.0000
20:1125482:ACTGT:Aacceptor_gain1.0000
20:1125484:T:Aacceptor_gain1.0000
20:1125486:T:TAacceptor_gain1.0000
20:1125496:AGCC:Aacceptor_gain1.0000
20:1125496:AGCCG:Aacceptor_gain1.0000
20:1125497:GCC:Gacceptor_gain1.0000
20:1125497:GCCG:Gacceptor_gain1.0000
20:1125497:GCCGG:Gacceptor_gain1.0000
20:1125649:TGG:Tdonor_loss1.0000
20:1125651:G:Tdonor_loss1.0000
20:1125652:T:TCdonor_loss1.0000
20:1125653:G:GTdonor_loss1.0000
20:1125654:AGTC:Adonor_loss1.0000
20:1127425:GGAAT:Gacceptor_gain1.0000
20:1118898:ACCAG:Adonor_gain0.9900
20:1118899:CCAG:Cdonor_loss0.9900
20:1118900:CAGGT:Cdonor_loss0.9900
20:1118901:AGGTA:Adonor_loss0.9900
20:1118902:GG:Gdonor_loss0.9900
20:1118904:T:Adonor_loss0.9900
20:1124469:G:GTdonor_gain0.9900
20:1125481:A:AGacceptor_gain0.9900
20:1125482:A:Gacceptor_gain0.9900
20:1125482:ACT:Aacceptor_gain0.9900
20:1125487:G:Aacceptor_gain0.9900
20:1125493:CCCA:Cacceptor_loss0.9900
20:1125494:CCA:Cacceptor_loss0.9900

AlphaMissense

1760 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
20:1164439:T:CF243L0.997
20:1164441:T:AF243L0.997
20:1164441:T:GF243L0.997
20:1125540:T:AW58R0.996
20:1125540:T:CW58R0.996
20:1164440:T:CF243S0.992
20:1164440:T:GF243C0.991
20:1125573:T:GY69D0.986
20:1135144:T:CL130P0.986
20:1164436:C:AR242S0.986
20:1118855:T:AW28R0.985
20:1118855:T:CW28R0.985
20:1118843:T:CC24R0.984
20:1164422:T:AV237E0.983
20:1164434:C:AA241D0.983
20:1164443:A:GD244G0.983
20:1125601:T:CL78P0.982
20:1125542:G:CW58C0.980
20:1125542:G:TW58C0.980
20:1135125:T:GY124D0.979
20:1135144:T:AL130H0.979
20:1125529:T:GL54R0.978
20:1125571:G:CR68P0.978
20:1127460:T:CL106P0.978
20:1164448:T:CF246L0.976
20:1164450:T:AF246L0.976
20:1164450:T:GF246L0.976
20:1164407:T:AL232H0.975
20:1125529:T:AL54Q0.974
20:1125568:T:CL67P0.974

dbSNP variants (sampled 300 via entrez): RS1000035453 (20:1147587 G>A), RS1000037453 (20:1116297 G>A,T), RS1000041244 (20:1111433 T>C), RS1000041602 (20:1113304 T>A,C), RS1000107092 (20:1154090 C>A), RS1000174777 (20:1152421 A>G), RS1000217071 (20:1140999 A>G), RS1000278392 (20:1147948 A>G), RS1000303394 (20:1135011 A>G), RS1000310641 (20:1153697 C>T), RS1000440269 (20:1134770 C>G), RS1000514566 (20:1138130 C>A), RS1000536467 (20:1154900 G>A), RS1000565464 (20:1138548 A>T), RS1000672909 (20:1150352 C>T)

Disease associations

OMIM: gene MIM:617858 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
complex neurodevelopmental disorder with motor featuresStrongAutosomal recessive

Mondo (2): complex neurodevelopmental disorder with motor features (MONDO:0100516), disease (MONDO:0000001)

Orphanet (1): (Orphanet:377788)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

StudyTraitp-value
GCST004029_2Angiotensin-converting enzyme inhibitor intolerance6.000000e-06
GCST006994_4Logical memory (immediate recall) in Alzheimer’s disease dementia5.000000e-07
GCST011780_1Neonatal white matter microstructure5.000000e-08

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0005325response to angiotensin-converting enzyme inhibitor
EFO:0004874memory performance
EFO:0005674white matter microstructure measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D004194DiseaseC23.550.288

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Aaffects expression, decreases expression, increases expression, increases methylation4
sodium arsenitedecreases expression, affects cotreatment, increases abundance, increases expression2
Valproic Acidincreases expression, decreases methylation2
FR900359decreases phosphorylation1
dicrotophosincreases expression1
triphenyl phosphateaffects expression1
nobiletindecreases reaction, increases expression1
sodium arsenatedecreases reaction, increases expression1
beta-lapachonedecreases expression1
cobaltous chloridedecreases expression1
manganese chlorideaffects cotreatment, increases abundance, increases expression1
nickel sulfatedecreases expression1
CGP 52608affects binding, increases reaction1
CD 437decreases expression1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic aciddecreases expression1
bisphenol Sdecreases methylation1
bisphenol AFincreases expression1
Bortezomibdecreases expression1
Temozolomideincreases expression1
Acetaminophendecreases expression1
Air Pollutantsincreases abundance, increases expression1
Arsenicincreases expression, affects cotreatment, increases abundance1
Benzo(a)pyreneincreases methylation1
Calcitrioldecreases expression1
Carbamazepineaffects expression1
Diclofenacaffects expression1
Doxorubicinincreases expression1
Ivermectindecreases expression1
Manganeseincreases abundance, increases expression, affects cotreatment1
Rotenonedecreases expression1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D1LHAbcam Jurkat PSMF1 KOCancer cell lineMale
CVCL_D1Q8Abcam K-562 PSMF1 KOCancer cell lineFemale
CVCL_D2LUAbcam Raji PSMF1 KOCancer cell lineMale
CVCL_TH36HAP1 PSMF1 (-) 1Cancer cell lineMale
CVCL_TH37HAP1 PSMF1 (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00502970PHASE4COMPLETEDShort Course of Interferon Treatment in Patients With HCV Infection
NCT00632554PHASE4COMPLETEDThe Efficacy of Three Months-prednisolone Therapy for Chronic Eosinophilic Pneumonia
NCT01179191PHASE4TERMINATEDConversion to Embeda With Rescue Trial
NCT01968161PHASE4UNKNOWNInvestigator Initiated Study - Asenapine Early Psychosis
NCT02436980PHASE4COMPLETEDPremedication for ERCP With Midazolam or Tramadol
NCT03702361PHASE4COMPLETEDRapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease
NCT06271538PHASE4RECRUITINGEvaluation of Efficacy of Skål Pro Powder on Symptoms of Irritable Bowel Syndrome
NCT06390436PHASE4NOT_YET_RECRUITINGTherapeutic Drug Monitoring-baSed adalimuMab De-escalatiOn in nOn-infecTious cHronic Uveitis
NCT06750471PHASE4ACTIVE_NOT_RECRUITINGDupixent Study for Alternate Administration
NCT00096785PHASE3COMPLETEDComparative Trial of Entecavir Versus Adefovir in the Treatment of Chronic Hepatitis B Infection
NCT00569595PHASE3COMPLETEDImproving Health Habits in Impoverished Populations
NCT00787956PHASE3COMPLETEDInternet Chronic Disease Self-Management Program for Australia
NCT00803244PHASE3COMPLETEDSafety and Efficacy on Phase III Study on 300 IR SLIT to Patients Suffering From Grass Pollen Rhinoconjunctivitis
NCT00813189PHASE3COMPLETEDEfficacy Study of Recombinant Growth Hormone on Muscle Function in Children Long-term Treated With Glucocorticoid
NCT00911287PHASE3COMPLETEDOxymorphone Extended Release (ER) in Opioid-Naive Patients With Chronic Pain
NCT01237860PHASE3COMPLETEDEvaluation of the Safety and Performance of the NESS L300 Plus System
NCT01477281PHASE3UNKNOWNStudy to Evaluate the Efficacy and Tolerability of Venaflon Use in Reducing the Symptoms Caused by Chronic Venous Insufficiency When Compared With Daflon
NCT02137772PHASE3COMPLETEDLetermovir (MK-8228) Versus Placebo in the Prevention of Clinically-Significant Cytomegalovirus (CMV) Infection in Adult, CMV-Seropositive Allogeneic Hematopoietic Stem Cell Transplant Recipients (MK-8228-001)
NCT04007848PHASE3COMPLETEDCobimetinib for BRAF-wild-type or Mutated Histiocytoses
NCT04264897PHASE3COMPLETEDAntecedent Metabolic Health and Metformin Aging Study
NCT04639310PHASE3TERMINATEDXEN496 (Ezogabine) in Children With KCNQ2 Developmental and Epileptic Encephalopathy
NCT04912856PHASE3TERMINATEDAn Open-Label Extension of the Study XEN496 (Ezogabine) in Children With KCNQ2-DEE
NCT00003145PHASE2COMPLETEDFludarabine Phosphate, Low-Dose Total-Body Irradiation, and Peripheral Blood Stem Cell Transplant Followed by Donor Lymphocyte Infusion in Treating Older Patients With Chronic Myeloid Leukemia
NCT00036738PHASE2COMPLETEDFludarabine Phosphate and Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Acute Lymphoblastic Leukemia or Chronic Myelogenous Leukemia That Has Responded to Treatment With Imatinib Mesylate, Dasatinib, or Nilotinib
NCT00408252PHASE2TERMINATEDEfficacy of SU 011248 in Head And Neck Carcinoma
NCT00552461PHASE2COMPLETEDProspective Trial of Rituximab for Primary Pulmonary Alveolar Proteinosis
NCT00795132PHASE2COMPLETEDHematopoietic Cell Transplantation for Pediatric Patients With Hematologic Malignancies
NCT00889499PHASE2COMPLETEDModulation of Central Hypersensitivity in Chronic Musculoskeletal Pain by Intravenous Tropisetron
NCT01047514PHASE2COMPLETEDHealthier Living Canada
NCT01047774PHASE2TERMINATEDThe Effect of Soy Protein on Post- Breast Cancer Surgery Pain
NCT01215578PHASE2TERMINATEDPredictive Biomarkers of Response to Sunitinib in the Treatment of Poorly-differentiated NEURO-Endocrine Tumors
NCT01267253PHASE2COMPLETEDBrivanib Alaninate in Treating Patients With Persistent or Recurrent Cervical Cancer
NCT01325194PHASE2COMPLETEDCHemoImmunotherapy With Early Central Nervous System (CNS) Prophylaxis
NCT01326897PHASE2COMPLETEDHealthy Homes/Healthy Families
NCT01635270PHASE2COMPLETEDPhase 2 Study Evaluating Mid-position Strategy in Radiotherapy Treatment for Patients With a Locally Advanced Non-small Cell Lung Carcinoma
NCT01664663PHASE2TERMINATEDPhase II Randomized Study on Locally Advanced NSCLC Escalated Dose on Individual Basis Treatment With Radiochemotherapy
NCT01687777PHASE2UNKNOWNMensenchymal Stem Cell (MSC) Included in OrthADAPT Membrane for Rotator Cuff Tears Repair
NCT01737450PHASE2COMPLETEDActivity and Safety Study of BKM120 in Monotherapy in Patient With Metastatic Head and Neck Cancer Recurrent or Progressive
NCT01794845PHASE2TERMINATEDCetuximab + Taxotere With Low Dose Fractionated Radiation for Head and Neck Carcinoma
NCT01884389PHASE2COMPLETEDRandomized Trial of an HIV Navigation Program for Early Palliative Care