PSMD7

Summary

PSMD7 (proteasome 26S subunit, non-ATPase 7, HGNC:9565) is a protein-coding gene on chromosome 16q23.1, encoding 26S proteasome non-ATPase regulatory subunit 7 (P51665). Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. It is a common-essential gene (DepMap: required in 99.8% of cancer 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 non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17.

Source: NCBI Gene 5713 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 46 total
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_002811

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9565
Approved symbol	PSMD7
Name	proteasome 26S subunit, non-ATPase 7
Location	16q23.1
Locus type	gene with protein product
Status	Approved
Aliases	S12, P40, MOV34, Rpn8
Ensembl gene	ENSG00000103035
Ensembl biotype	protein_coding
OMIM	157970
Entrez	5713

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000219313, ENST00000563150, ENST00000566015, ENST00000567958, ENST00000568615, ENST00000568717, ENST00000937729, ENST00000937730

RefSeq mRNA: 1 — MANE Select: NM_002811 NM_002811

CCDS: CCDS10910

Canonical transcript exons

ENST00000219313 — 7 exons

Exon	Start	End
ENSE00000874844	74296814	74296988
ENSE00000874845	74305289	74306288
ENSE00003475228	74304303	74304394
ENSE00003536114	74301052	74301144
ENSE00003607341	74302212	74302292
ENSE00003644424	74301555	74301652
ENSE00003670943	74300115	74300206

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 98.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 94.7336 / max 642.6341, expressed in 1827 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155003	91.2929	1827
155004	3.4407	1562

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	98.50	gold quality
muscle of leg	UBERON:0001383	98.37	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.14	gold quality
muscle organ	UBERON:0001630	98.04	gold quality
skeletal muscle organ	UBERON:0014892	98.04	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.66	gold quality
skin of leg	UBERON:0001511	97.42	gold quality
heart left ventricle	UBERON:0002084	97.39	gold quality
skin of abdomen	UBERON:0001416	97.34	gold quality
skeletal muscle tissue	UBERON:0001134	97.27	gold quality
deltoid	UBERON:0001476	97.26	gold quality
gluteal muscle	UBERON:0002000	97.26	gold quality
cardiac ventricle	UBERON:0002082	97.23	gold quality
vastus lateralis	UBERON:0001379	97.20	gold quality
monocyte	CL:0000576	97.19	gold quality
quadriceps femoris	UBERON:0001377	97.17	gold quality
right atrium auricular region	UBERON:0006631	97.17	gold quality
rectum	UBERON:0001052	97.10	gold quality
tibial artery	UBERON:0007610	97.05	gold quality
right adrenal gland cortex	UBERON:0035827	97.05	gold quality
popliteal artery	UBERON:0002250	97.04	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.04	gold quality
islet of Langerhans	UBERON:0000006	97.02	gold quality
left adrenal gland	UBERON:0001234	97.02	gold quality
right adrenal gland	UBERON:0001233	97.01	gold quality
adrenal tissue	UBERON:0018303	97.00	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.92	gold quality
lower esophagus	UBERON:0013473	96.91	gold quality
mononuclear cell	CL:0000842	96.90	gold quality
stromal cell of endometrium	CL:0002255	96.89	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	37.82
E-MTAB-6911	no	492.86
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

44 targeting PSMD7, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-6513-3P	99.59	69.77	1102

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• hVIP is a member of the complex array of nucleocytoplasmic shuttling proteins that are regulated by HIV infection and glucocorticoids (PMID:12237292)
• data suggest a differential nuclear function of modified and unmodified S12 in cancer (PMID:15221960)
• MPN domain of Mov34 is highly resistant to proteolysis (PMID:16842755)
• although the MPN domain of Mov34 shows a typical metalloprotease fold, it is unable to coordinate a metal ion. (PMID:17559875)
• SNP rs17336700 of a non-MHC ubiquitin-proteasome subunit PSMD7 is significantly associated with ankylosing spondylitis in Chinese population and the mRNA level of the PSMD7 gene in liver tissue increased when the rs17336700 C allele was present. (PMID:20643764)
• Deubiquitinase PSMD7 promotes the proliferation, invasion, and cisplatin resistance of gastric cancer cells by stabilizing RAD23B. (PMID:34512150)
• Transcriptional activation of Proteasome 26S non-ATPase subunit 7 by forkhead box P3 participates in gastric cancer cell proliferation and apoptosis. (PMID:35037550)
• Deubiquitinating enzyme PSMD7 promotes bladder cancer development: Involvement of RAB1A stabilization. (PMID:38040402)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	psmd7	ENSDARG00000102417
mus_musculus	Psmd7	ENSMUSG00000039067
rattus_norvegicus	Psmd7	ENSRNOG00000014097
drosophila_melanogaster	Rpn8	FBGN0002787
caenorhabditis_elegans	rpn-8	WBGENE00004464

Paralogs (2): COPS6 (ENSG00000168090), EIF3F (ENSG00000175390)

Protein

Protein identifiers

26S proteasome non-ATPase regulatory subunit 7 — P51665 (reviewed: P51665)

Alternative names: 26S proteasome regulatory subunit RPN8, 26S proteasome regulatory subunit S12, Mov34 protein homolog, Proteasome subunit p40

All UniProt accessions (4): P51665, H3BNT7, H3BQV2, H3BTM8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.

Subunit / interactions. Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits including PSMD7, a base containing 6 ATPases and few additional components. Within the complex, PSMD7 interacts with subunit PSMD4 through their respective MPN domain. Interacts with TRIM5.

Miscellaneous. Does not bind a metal ion.

Similarity. Belongs to the peptidase M67A family.

RefSeq proteins (1): NP_002802* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000555	JAMM/MPN+_dom	Domain
IPR024969	EIF3F/CSN6-like_C	Domain
IPR033858	MPN_RPN7_8	Family
IPR037518	MPN	Domain

Pfam: PF01398, PF13012

UniProt features (33 total): strand 12, helix 7, modified residue 4, sequence conflict 3, turn 3, chain 1, domain 1, region of interest 1, cross-link 1

Structure

Experimental structures (PDB)

120 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
2O95	X-RAY DIFFRACTION	1.95
9K53	ELECTRON MICROSCOPY	2.5
8USB	ELECTRON MICROSCOPY	2.73
9MBP	ELECTRON MICROSCOPY	2.75
9NKG	ELECTRON MICROSCOPY	2.8
9E8I	ELECTRON MICROSCOPY	2.87
9BV3	ELECTRON MICROSCOPY	2.9
9E8H	ELECTRON MICROSCOPY	2.9
9K4J	ELECTRON MICROSCOPY	2.9
9NKF	ELECTRON MICROSCOPY	2.9
9U3L	ELECTRON MICROSCOPY	2.91
9NKI	ELECTRON MICROSCOPY	2.94
2O96	X-RAY DIFFRACTION	3
6MSB	ELECTRON MICROSCOPY	3
7W37	ELECTRON MICROSCOPY	3
8CVT	ELECTRON MICROSCOPY	3
9E8G	ELECTRON MICROSCOPY	3.01
9MBQ	ELECTRON MICROSCOPY	3.08
7W38	ELECTRON MICROSCOPY	3.1
8USC	ELECTRON MICROSCOPY	3.1
9BV1	ELECTRON MICROSCOPY	3.1
9E8O	ELECTRON MICROSCOPY	3.1
9K4R	ELECTRON MICROSCOPY	3.1
9E8Q	ELECTRON MICROSCOPY	3.16
6MSD	ELECTRON MICROSCOPY	3.2
6MSK	ELECTRON MICROSCOPY	3.2
7W39	ELECTRON MICROSCOPY	3.2
7W3G	ELECTRON MICROSCOPY	3.2
7W3H	ELECTRON MICROSCOPY	3.2
9K4M	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P51665-F1	83.10	0.30

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 (5): 204, 214, 316, 317, 180

Function

Pathways and Gene Ontology

Reactome pathways

68 pathways

ID	Pathway
R-HSA-1169091	Activation of NF-kappaB in B cells
R-HSA-1234176	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
R-HSA-1236974	ER-Phagosome pathway
R-HSA-1236978	Cross-presentation of soluble exogenous antigens (endosomes)
R-HSA-174084	Autodegradation of Cdh1 by Cdh1:APC/C
R-HSA-174113	SCF-beta-TrCP mediated degradation of Emi1
R-HSA-174154	APC/C:Cdc20 mediated degradation of Securin
R-HSA-174178	APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
R-HSA-174184	Cdc20:Phospho-APC/C mediated degradation of Cyclin A
R-HSA-180534	Vpu mediated degradation of CD4
R-HSA-180585	Vif-mediated degradation of APOBEC3G
R-HSA-187577	SCF(Skp2)-mediated degradation of p27/p21
R-HSA-195253	Degradation of beta-catenin by the destruction complex
R-HSA-202424	Downstream TCR signaling
R-HSA-211733	Regulation of activated PAK-2p34 by proteasome mediated degradation
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2871837	FCERI mediated NF-kB activation
R-HSA-349425	Autodegradation of the E3 ubiquitin ligase COP1
R-HSA-350562	Regulation of ornithine decarboxylase (ODC)
R-HSA-382556	ABC-family protein mediated transport
R-HSA-450408	AUF1 (hnRNP D0) binds and destabilizes mRNA
R-HSA-4608870	Asymmetric localization of PCP proteins
R-HSA-4641257	Degradation of AXIN
R-HSA-4641258	Degradation of DVL
R-HSA-5358346	Hedgehog ligand biogenesis
R-HSA-5362768	Hh mutants are degraded by ERAD
R-HSA-5607761	Dectin-1 mediated noncanonical NF-kB signaling
R-HSA-5607764	CLEC7A (Dectin-1) signaling
R-HSA-5610780	Degradation of GLI1 by the proteasome
R-HSA-5610783	Degradation of GLI2 by the proteasome

MSigDB gene sets: 360 (showing top): MORF_MTA1, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, AP1_01, REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1, REACTOME_INNATE_IMMUNE_SYSTEM, MORF_MBD4, YAGI_AML_WITH_INV_16_TRANSLOCATION, MORF_RAB5A, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_RESPONSE_TO_PEPTIDE, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, KEGG_PROTEASOME

GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)

GO Molecular Function (4): protein homodimerization activity (GO:0042803), protein binding (GO:0005515), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237)

GO Cellular Component (10): proteasome complex (GO:0000502), extracellular region (GO:0005576), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), proteasome regulatory particle (GO:0005838), membrane (GO:0016020), secretory granule lumen (GO:0034774), extracellular exosome (GO:0070062), ficolin-1-rich granule lumen (GO:1904813)

Reactome top-level categories

Rollup of top-18 pathways:

Category	Pathways
Antigen processing-Cross presentation	2
APC/C-mediated degradation of cell cycle proteins	2
Host Interactions of HIV factors	2
Downstream signaling events of B Cell Receptor (BCR)	1
Cellular response to hypoxia	1
Regulation of APC/C activators between G1/S and early anaphase	1
APC/C:Cdc20 mediated degradation of mitotic proteins	1
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint	1
Cyclin E associated events during G1/S transition	1
Cyclin A:Cdk2-associated events at S phase entry	1
Signaling by WNT	1
TCR signaling	1
Regulation of Apoptosis	1
Mitotic Anaphase	1
Fc epsilon receptor (FCERI) signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
identical protein binding	1
protein dimerization activity	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
intracellular protein-containing complex	1
endopeptidase complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
proteasome accessory complex	1
protein-containing complex	1
secretory granule	1
cytoplasmic vesicle lumen	1
extracellular vesicle	1
intracellular organelle lumen	1
ficolin-1-rich granule	1

Protein interactions and networks

STRING

3730 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PSMD7	PSMD14	O00487	999
PSMD7	PSMD12	O00232	997
PSMD7	PSMD11	O00231	996
PSMD7	PSMD3	O43242	996
PSMD7	PSMD13	Q9UNM6	996
PSMD7	PSMD6	Q15008	995
PSMD7	PSMD8	P48556	994
PSMD7	EIF3D	O15371	915
PSMD7	COPS5	Q92905	911
PSMD7	PSMD2	Q13200	906
PSMD7	PSMD4	P55036	904
PSMD7	EIF3H	O15372	901
PSMD7	PSMD1	Q99460	897
PSMD7	PSMC4	P43686	881
PSMD7	PSMC1	P49014	879

IntAct

213 interactions, top by confidence:

A	B	Type	Score
PSMC6	PSMC3	psi-mi:“MI:0915”(physical association)	0.950
PSMD14	PSMD7	psi-mi:“MI:0915”(physical association)	0.900
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
STK24	STRN	psi-mi:“MI:0914”(association)	0.870
UCHL5	PSMD11	psi-mi:“MI:0914”(association)	0.840
PSMD10	PSMD11	psi-mi:“MI:0914”(association)	0.800
MED23	MED19	psi-mi:“MI:2364”(proximity)	0.770
PSMD7	PSMD11	psi-mi:“MI:0914”(association)	0.730
PSMC5	PSMD11	psi-mi:“MI:0914”(association)	0.730
PSMD11	PSMD12	psi-mi:“MI:0915”(physical association)	0.730
PSMB2	PSMD11	psi-mi:“MI:0914”(association)	0.730
PSMD2	PSMD11	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
HTT	PSMD7	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (610): PSMD7 (Affinity Capture-MS), PSMD14 (Two-hybrid), PSMD7 (Affinity Capture-MS), PSMD7 (Affinity Capture-MS), PSMD7 (Affinity Capture-MS), PSMD1 (Affinity Capture-MS), PSMD13 (Affinity Capture-MS), VPS53 (Affinity Capture-MS), KTN1 (Affinity Capture-MS), RNF20 (Affinity Capture-MS), USP15 (Affinity Capture-MS), PSMD3 (Affinity Capture-MS), PSMD11 (Affinity Capture-MS), PSMC4 (Affinity Capture-MS), PSMC1 (Affinity Capture-MS)

ESM2 similar proteins: A1Z6K7, A3QVV1, A8WVY9, A9V3P1, B0X2G0, B3M123, B3MJ61, B3MP94, B3N4F1, B3NB67, B3P239, B4GDU3, B4HBD2, B4I1C2, B4I3S1, B4II46, B4J9U3, B4JAS7, B4JGX4, B4KBI4, B4KGS4, B4KSC0, B4LTW0, B4LZ60, B4MDZ0, B4MR33, B4N116, B4NJR8, B4NYU1, B4P3T9, B4PUG5, B4QD77, B4QVL3, B5DJJ2, B5E1N0, O01974, O24412, O74440, P26270, P26516

Diamond homologs: A1CQH7, A1Z6K7, A2QQ10, A3QVV1, A5A6I3, A8PZS4, B0X2G0, B3M123, B3MJ61, B3NB67, B3P239, B4GDU3, B4HBD2, B4I3S1, B4II46, B4J9U3, B4JGX4, B4KBI4, B4KSC0, B4LZ60, B4MDZ0, B4MR33, B4NJR8, B4NYU1, B4PUG5, B4QD77, B4QVL3, B5E1N0, O00303, O04202, O24412, P0CO84, P0CO85, P26270, P26516, P51665, Q1DRC9, Q1HR47, Q295I4, Q3ZBD0

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
PSMD7	“form complex”	“26S Proteasome”	binding
UBE3A	“down-regulates quantity by destabilization”	PSMD7	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 165 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:

Pathway	Partners	Fold	FDR
Autodegradation of the E3 ubiquitin ligase COP1	21	50.2×	2e-29
Regulation of activated PAK-2p34 by proteasome mediated degradation	20	50.2×	2e-28
Regulation of ornithine decarboxylase (ODC)	20	49.0×	3e-28
Cross-presentation of soluble exogenous antigens (endosomes)	21	48.0×	4e-29
Vpu mediated degradation of CD4	20	47.9×	4e-28
Ubiquitin-dependent degradation of Cyclin D	20	47.9×	4e-28
Proteasome assembly	26	47.8×	6e-36
Hh mutants are degraded by ERAD	21	46.0×	1e-28

GO biological processes:

GO term	Partners	Fold	FDR
proteasome-mediated ubiquitin-dependent protein catabolic process	27	9.8×	2e-16

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1224 predictions. Top by Δscore:

Variant	Effect	Δscore
16:74300112:CA:C	acceptor_loss	1.0000
16:74300113:A:AC	acceptor_loss	1.0000
16:74300113:A:AG	acceptor_gain	1.0000
16:74300114:G:GC	acceptor_gain	1.0000
16:74300114:GA:G	acceptor_gain	1.0000
16:74300114:GAATC:G	acceptor_gain	1.0000
16:74300202:TGCAG:T	donor_loss	1.0000
16:74300204:CAG:C	donor_loss	1.0000
16:74300205:AGG:A	donor_loss	1.0000
16:74300208:T:A	donor_loss	1.0000
16:74301049:TAG:T	acceptor_loss	1.0000
16:74301050:A:AG	acceptor_gain	1.0000
16:74301051:G:GA	acceptor_gain	1.0000
16:74301051:GTT:G	acceptor_gain	1.0000
16:74301051:GTTC:G	acceptor_gain	1.0000
16:74301051:GTTCC:G	acceptor_gain	1.0000
16:74301553:A:AC	acceptor_loss	1.0000
16:74301553:A:AG	acceptor_gain	1.0000
16:74301554:G:GG	acceptor_gain	1.0000
16:74301554:GCC:G	acceptor_gain	1.0000
16:74301554:GCCA:G	acceptor_gain	1.0000
16:74301653:G:GG	donor_gain	1.0000
16:74302206:T:TA	acceptor_gain	1.0000
16:74302207:GCCA:G	acceptor_loss	1.0000
16:74302208:CCAG:C	acceptor_loss	1.0000
16:74302209:CA:C	acceptor_loss	1.0000
16:74302211:GGT:G	acceptor_gain	1.0000
16:74302288:ATGAT:A	donor_gain	1.0000
16:74302289:TGAT:T	donor_gain	1.0000
16:74302290:GAT:G	donor_gain	1.0000

AlphaMissense

2153 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:74296946:T:A	V11D	1.000
16:74296948:C:G	H12D	1.000
16:74296952:C:A	P13H	1.000
16:74296955:T:C	L14P	1.000
16:74296957:G:A	V15M	1.000
16:74296961:T:C	L16P	1.000
16:74296964:T:A	L17H	1.000
16:74296964:T:C	L17P	1.000
16:74296966:A:C	S18R	1.000
16:74296968:T:A	S18R	1.000
16:74296968:T:G	S18R	1.000
16:74296975:G:C	D21H	1.000
16:74296976:A:C	D21A	1.000
16:74296976:A:T	D21V	1.000
16:74296988:G:C	R25P	1.000
16:74300147:T:A	V36D	1.000
16:74300149:G:C	G37R	1.000
16:74300149:G:T	G37C	1.000
16:74300150:G:A	G37D	1.000
16:74300150:G:T	G37V	1.000
16:74300156:T:A	L39H	1.000
16:74300156:T:C	L39P	1.000
16:74300161:G:A	G41R	1.000
16:74300161:G:C	G41R	1.000
16:74300161:G:T	G41W	1.000
16:74300162:G:A	G41E	1.000
16:74300162:G:T	G41V	1.000
16:74300189:T:A	V50E	1.000
16:74300197:A:C	S53R	1.000
16:74300199:T:A	S53R	1.000

dbSNP variants (sampled 300 via entrez): RS1000120332 (16:74297248 GAGTTCGTTTTGCCGA>G), RS1000126706 (16:74296510 CG>C), RS1000348428 (16:74298396 G>A), RS1000684672 (16:74297108 T>C), RS1000912779 (16:74303091 G>A,C,T), RS1001188425 (16:74302140 G>A), RS1001199841 (16:74302414 T>A,C), RS1002044660 (16:74306390 T>G), RS1002390313 (16:74296474 G>A,T), RS1002505065 (16:74306641 A>G), RS1002743741 (16:74295038 G>A), RS1003080114 (16:74306283 T>G), RS1003131195 (16:74306543 G>T), RS1003287591 (16:74299227 C>T), RS1003508173 (16:74303418 C>A,T)

Disease associations

OMIM: gene MIM:157970 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003992_14	Photic sneeze reflex	4.000000e-09
GCST008757_5	Alcohol consumption	1.000000e-14
GCST008811_5	Alcohol consumption (drinks per week)	2.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2364701 (PROTEIN COMPLEX), CHEMBL3831214 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 25,628 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL325041	BORTEZOMIB	4	13,120
CHEMBL451887	CARFILZOMIB	4	12,508

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

ChEMBL bioactivities

66 potent at pChembl≥5 of 67 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.62	IC50	2.4	nM	BORTEZOMIB
8.59	IC50	2.56	nM	BORTEZOMIB
8.57	IC50	2.7	nM	CHEMBL3237863
8.47	IC50	3.4	nM	CHEMBL6143686
8.41	IC50	3.9	nM	CHEMBL3237862
8.39	IC50	4.1	nM	CHEMBL3237864
8.39	IC50	4.1	nM	CHEMBL3237867
8.32	IC50	4.8	nM	CHEMBL3237873
8.29	IC50	5.1	nM	CHEMBL3237865
8.24	IC50	5.7	nM	CHEMBL3237866
8.24	IC50	5.7	nM	CHEMBL3237860
8.23	IC50	5.9	nM	CHEMBL3237868
8.15	IC50	7	nM	BORTEZOMIB
8.15	IC50	7.1	nM	CHEMBL3237870
8.15	IC50	7.14	nM	BORTEZOMIB
8.12	IC50	7.5	nM	CHEMBL3237871
8.11	IC50	7.7	nM	CHEMBL3237874
8.11	IC50	7.8	nM	CHEMBL3237869
8.07	IC50	8.6	nM	CARFILZOMIB
7.54	IC50	29	nM	CHEMBL3237861
7.34	IC50	46	nM	CHEMBL3237867
7.27	IC50	54	nM	CHEMBL3237872
7.15	Kd	71.11	nM	CHEMBL5653589
7.15	ED50	71.11	nM	CHEMBL5653589
7.12	IC50	75	nM	CHEMBL3237865
7.12	IC50	76	nM	CHEMBL3237866
6.96	IC50	110	nM	CHEMBL3262766
6.92	IC50	120	nM	CHEMBL3237864
6.92	IC50	120	nM	BORTEZOMIB
6.89	IC50	130	nM	CHEMBL3237869
6.85	IC50	140	nM	CHEMBL3237862
6.82	IC50	150	nM	CHEMBL3237863
6.77	IC50	170	nM	CHEMBL3237873
6.77	IC50	170	nM	CHEMBL3262765
6.72	IC50	190	nM	CHEMBL3262758
6.68	IC50	210	nM	CHEMBL3237870
6.66	IC50	220	nM	CHEMBL3262756
6.60	IC50	250	nM	CHEMBL3237868
6.47	IC50	340	nM	CHEMBL3262752
6.47	IC50	340	nM	CHEMBL3262755
6.44	IC50	360	nM	CHEMBL3262757
6.42	IC50	380	nM	CHEMBL3262754
6.36	IC50	440	nM	CHEMBL3262753
6.30	IC50	500	nM	CHEMBL3237872
6.20	IC50	630	nM	CHEMBL3262762
6.02	IC50	950	nM	CHEMBL3262761
6.00	IC50	1000	nM	CHEMBL3237871
5.96	IC50	1100	nM	CHEMBL3237862
5.85	IC50	1400	nM	BELACTOSIN A
5.84	IC50	1440	nM	BELACTOSIN A

PubChem BioAssay actives

62 with measured affinity, of 137 total; 34 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
Bortezomib	1985684: Inhibition of 26S proteasome (unknown origin)	ic50	0.0024	uM
(2S)-2-acetamido-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-[4-phenylmethoxy-3-(phenylmethoxymethyl)butyl]butanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0027	uM
(2S)-2-acetamido-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-[3-phenylmethoxy-2-(phenylmethoxymethyl)propyl]butanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0039	uM
(2S)-2-acetamido-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-[5-phenylmethoxy-4-(phenylmethoxymethyl)pentyl]butanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0041	uM
(2S)-2-acetamido-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-[5-phenylmethoxy-4-(phenylmethoxymethyl)pentyl]pentanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0041	uM
(2S)-2-acetamido-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-(4-phenylmethoxybutyl)butanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0048	uM
(2S)-2-acetamido-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-[3-phenylmethoxy-2-(phenylmethoxymethyl)propyl]pentanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0051	uM
(2S)-2-acetamido-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-[4-phenylmethoxy-3-(phenylmethoxymethyl)butyl]pentanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0057	uM
benzyl N-[(2S)-1-[[(2R)-1-[(1R,2S)-2-[[(2R,3S)-3-[(2S)-butan-2-yl]-4-oxooxetane-2-carbonyl]amino]cyclopropyl]-4-phenylbutan-2-yl]amino]-1-oxopropan-2-yl]carbamate	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0057	uM
(2S)-2-[(2,5-dichlorobenzoyl)amino]-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-[4-phenylmethoxy-3-(phenylmethoxymethyl)butyl]butanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0059	uM
(2S)-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-[4-phenylmethoxy-3-(phenylmethoxymethyl)butyl]-2-(pyrazine-2-carbonylamino)butanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0071	uM
(2S)-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-[4-phenylmethoxy-3-(phenylmethoxymethyl)butyl]-2-[(6-phenylpyridine-2-carbonyl)amino]butanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0075	uM
[(1R)-1-[[(2S)-2-acetamido-4-oxo-4-[[3-phenylmethoxy-2-(phenylmethoxymethyl)propyl]amino]butanoyl]amino]-3-methylbutyl]boronic acid	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0077	uM
(2S)-2-benzamido-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]-N’-[4-phenylmethoxy-3-(phenylmethoxymethyl)butyl]butanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0078	uM
Carfilzomib	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.0086	uM
(2R,3S)-3-[(2S)-butan-2-yl]-4-oxo-N-[4-phenylmethoxy-3-(phenylmethoxymethyl)butyl]oxetane-2-carboxamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0290	uM
(2S)-2-acetamido-N’-methyl-N-[(1R)-3-methyl-1-[(1S,2S,6R,8S)-2,9,9-trimethyl-3,5-dioxa-4-boratricyclo[6.1.1.02,6]decan-4-yl]butyl]butanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0540	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149130: Binding affinity to human PSMD7 incubated for 45 mins by Kinobead based pull down assay	kd	0.0711	uM
N-[(1R)-3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]naphthalene-2-carboxamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.1100	uM
N-[(1R)-3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]-4-(trifluoromethyl)benzamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.1700	uM
N-[3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]naphthalene-2-carboxamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.1900	uM
N-[3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]-4-(trifluoromethyl)benzamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.2200	uM
N-[3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]pyridine-3-carboxamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.3400	uM
4-methoxy-N-[3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]benzamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.3400	uM
4-cyano-N-[3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]benzamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.3600	uM
4-fluoro-N-[3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]benzamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.3800	uM
N-[3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]benzamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.4400	uM
N-[3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]oxane-4-carboxamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.6300	uM
N-[3-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-3-oxo-1-phenylpropyl]thiophene-2-carboxamide	1141825: Inhibition of chymotrypsin-like enzyme activity of purified human 20S proteasome using Suc-Leu-Leu-Val-Tyr-AMC as substrate by fluorescence method	ic50	0.9500	uM
(2S)-2-[[(2S)-2-aminopropanoyl]amino]-3-[(1S,2S)-2-[[(2R,3S)-3-[(2S)-butan-2-yl]-4-oxooxetane-2-carbonyl]amino]cyclopropyl]propanoic acid	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	1.4000	uM
(2S)-2-acetamido-N-[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]-N’-[4-phenylmethoxy-3-(phenylmethoxymethyl)butyl]butanediamide	1152964: Inhibition of chymotrypsin-like of human 20S proteasome using chromophoric Suc-LLVY-AMC as substrate after 60 mins by fluorescence assay	ic50	2.3000	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149130: Binding affinity to human PSMD7 incubated for 45 mins by Kinobead based pull down assay	kd	4.1237	uM
N-[3-(2-oxo-1,3,4-oxathiazol-5-yl)phenyl]acetamide	1137840: Inhibition of chymotrypsin-like activity of 26S proteasome in intact human Karpas 1106p cells assessed as substrate hydrolysis using Suc-LLVY-(D)-aminoluciferin as substrate after 3 hrs by cell-based Proteasome-Glo assay	ec50	4.2000	uM
(2S)-2-acetamido-N-[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]-N’-(4-phenylmethoxybutyl)butanediamide	1152964: Inhibition of chymotrypsin-like of human 20S proteasome using chromophoric Suc-LLVY-AMC as substrate after 60 mins by fluorescence assay	ic50	5.7000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression	3
Valproic Acid	increases expression, affects expression	3
bisphenol F	affects cotreatment, increases expression	2
sodium arsenite	increases abundance, increases expression, decreases expression	2
Arsenic Trioxide	affects binding, decreases reaction, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression, decreases expression	2
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
quinoline	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
torcetrapib	increases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases expression	1

ChEMBL screening assays

27 unique, capped per target: 27 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3222879	Binding	Inhibition of human 20S proteasome using Suc-LLVY-AMC as substrate preincubated for 30 mins followed by substrate addition measured after 90 mins by fluorescence assay	Oxathiazole-2-one derivative of bortezomib: Synthesis, stability and proteasome inhibition activity — Medchemcomm

Clinical trials (associated diseases)

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