PSMB4

Summary

PSMB4 (proteasome 20S subunit beta 4, HGNC:9541) is a protein-coding gene on chromosome 1q21.3, encoding Proteasome subunit beta type-4 (P28070). Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit.

Source: NCBI Gene 5692 — RefSeq curated summary.

At a glance

• Gene–disease (curated): proteasome-associated autoinflammatory syndrome 3 (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 300 total — 2 pathogenic
• GTEx eGene: eQTL in 9 tissues, sQTL in 1 (q < 0.05)
• Phenotypes (HPO): 26
• ChEMBL bioactivity: 5 clinical-phase molecules tested; no curated mechanism-of-action drug
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• Constraint (gnomAD): pLI 0.13 (intermediate), LOEUF 0.66 (unconstrained)
• MANE Select transcript: NM_002796
• Interaction hub: 2,564 STRING partners (top 4% of genes corpus-wide)
• Notable: 300 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9541
Approved symbol	PSMB4
Name	proteasome 20S subunit beta 4
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	HN3, PROS26
Ensembl gene	ENSG00000159377
Ensembl biotype	protein_coding
OMIM	602177
Entrez	5692

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 6 protein_coding, 6 retained_intron, 6 nonsense_mediated_decay

MANE Select: ENST00000290541

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 4, TSL 5: 2

ENST00000290541, ENST00000466425, ENST00000474100, ENST00000476467, ENST00000493673, ENST00000495288, ENST00000495805, ENST00000933662, ENST00000933663, ENST00000933664, ENST00001007911, ENST00001007912, ENST00001025308, ENST00001084506, ENST00001084509, ENST00001084511, ENST00001084512, ENST00001143707

RefSeq mRNA: 1 — MANE Select: NM_002796 NM_002796

CCDS: CCDS996

Canonical transcript exons

ENST00000290541 — 7 exons

Exon	Start	End
ENSE00001045218	151401239	151401355
ENSE00001850075	151401817	151401937
ENSE00001942667	151399573	151399727
ENSE00003517020	151399981	151400187
ENSE00003522405	151401542	151401630
ENSE00003527118	151400764	151400845
ENSE00003560860	151400442	151400588

Expression profiles

Bgee: expression breadth ubiquitous, 300 present calls, max score 99.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 142.2616 / max 1567.9015, expressed in 1824 samples.

Highest expression (Bgee): epithelium of nasopharynx, endometrium epithelium, nasopharynx, adrenal gland, adenohypophysis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PSMB4 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 9 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

10 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	9.3e-09	+0.10	1:151469775:T:G
Adipose Subcutaneous	eqtl	8.4e-06	-0.12	1:151410845:C:T
Esophagus Mucosa	eqtl	3.5e-05	+0.11	1:151469775:T:G
Nerve Tibial	eqtl	1.9e-04	+0.08	1:151485717:C:T
Adipose Visceral Omentum	eqtl	9.8e-03	+0.08	1:151413383:C:T
Spleen	sqtl	2.2e-02	-0.66	1:151866247:G:A
Skin Sun Exposed Lower leg	eqtl	2.3e-02	-0.09	1:151457142:T:C
Spleen	eqtl	2.7e-02	-0.11	1:151371674:C:A
Brain Nucleus accumbens basal ganglia	eqtl	4.6e-02	+0.38	1:151108467:C:G
Whole Blood	eqtl	4.8e-02	+0.05	1:151423306:T:C

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
5226	142.2616	1824

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelium of nasopharynx	UBERON:0001951	99.51	gold quality
endometrium epithelium	UBERON:0004811	99.51	gold quality
nasopharynx	UBERON:0001728	99.49	gold quality
right adrenal gland	UBERON:0001233	99.21	gold quality
adenohypophysis	UBERON:0002196	99.21	gold quality
palpebral conjunctiva	UBERON:0001812	99.20	gold quality
mucosa of stomach	UBERON:0001199	99.19	gold quality
body of uterus	UBERON:0009853	99.19	gold quality
right adrenal gland cortex	UBERON:0035827	99.18	gold quality
smooth muscle tissue	UBERON:0001135	99.17	gold quality
left adrenal gland	UBERON:0001234	99.17	gold quality
left adrenal gland cortex	UBERON:0035825	99.17	gold quality
eye	UBERON:0000970	99.15	gold quality
pituitary gland	UBERON:0000007	99.11	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.11	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.11	gold quality
endocervix	UBERON:0000458	99.10	gold quality
left uterine tube	UBERON:0001303	99.10	gold quality
skin of leg	UBERON:0001511	99.10	gold quality
lower esophagus	UBERON:0013473	99.10	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.10	gold quality
granulocyte	CL:0000094	99.07	gold quality
islet of Langerhans	UBERON:0000006	99.07	gold quality
adrenal cortex	UBERON:0001235	99.07	gold quality
right ovary	UBERON:0002118	99.07	gold quality
metanephros cortex	UBERON:0010533	99.06	gold quality
skin of abdomen	UBERON:0001416	99.05	gold quality
gingival epithelium	UBERON:0001949	99.05	gold quality
adult organism	UBERON:0007023	99.04	gold quality
zone of skin	UBERON:0000014	99.03	gold quality
left coronary artery	UBERON:0001626	99.03	gold quality
descending thoracic aorta	UBERON:0002345	99.03	gold quality
pigmented layer of retina	UBERON:0001782	99.02	gold quality
germinal epithelium of ovary	UBERON:0001304	99.01	gold quality
thoracic aorta	UBERON:0001515	99.01	gold quality
tibial artery	UBERON:0007610	99.01	gold quality
aorta	UBERON:0000947	99.00	gold quality
retina	UBERON:0000966	99.00	gold quality
sigmoid colon	UBERON:0001159	99.00	gold quality
ascending aorta	UBERON:0001496	99.00	gold quality
popliteal artery	UBERON:0002250	99.00	gold quality
left ovary	UBERON:0002119	98.99	gold quality
cerebellar hemisphere	UBERON:0002245	98.99	gold quality
prostate gland	UBERON:0002367	98.99	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.99	gold quality
endothelial cell	CL:0000115	98.98	gold quality
right lung	UBERON:0002167	98.98	gold quality
adrenal gland	UBERON:0002369	98.98	gold quality
type B pancreatic cell	CL:0000169	98.97	gold quality
right lobe of thyroid gland	UBERON:0001119	98.97	gold quality
right coronary artery	UBERON:0001625	98.97	gold quality
cerebellar cortex	UBERON:0002129	98.97	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.97	gold quality
left lobe of thyroid gland	UBERON:0001120	98.96	gold quality
ovary	UBERON:0000992	98.95	gold quality
coronary artery	UBERON:0001621	98.94	gold quality
spleen	UBERON:0002106	98.94	gold quality
parietal pleura	UBERON:0002400	98.94	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.94	gold quality
metanephros	UBERON:0000081	98.93	gold quality
gall bladder	UBERON:0002110	98.93	gold quality
ectocervix	UBERON:0012249	98.93	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.92	gold quality
tendon of biceps brachii	UBERON:0008188	98.92	gold quality
body of stomach	UBERON:0001161	98.91	gold quality
mucosa of transverse colon	UBERON:0004991	98.91	gold quality
seminal vesicle	UBERON:0000998	98.90	gold quality
right uterine tube	UBERON:0001302	98.90	gold quality
cortical plate	UBERON:0005343	98.90	gold quality
upper lobe of left lung	UBERON:0008952	98.88	gold quality
thyroid gland	UBERON:0002046	98.87	gold quality
adrenal tissue	UBERON:0018303	98.87	gold quality
rectum	UBERON:0001052	98.86	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.86	gold quality
vagina	UBERON:0000996	98.85	gold quality
lymph node	UBERON:0000029	98.84	gold quality
adipose tissue	UBERON:0001013	98.84	gold quality
transverse colon	UBERON:0001157	98.84	gold quality
subcutaneous adipose tissue	UBERON:0002190	98.84	gold quality
right frontal lobe	UBERON:0002810	98.84	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.84	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.84	gold quality
pleura	UBERON:0000977	98.83	gold quality
peritoneum	UBERON:0002358	98.83	gold quality
periodontal ligament	UBERON:0008266	98.83	gold quality
omental fat pad	UBERON:0010414	98.83	gold quality
prefrontal cortex	UBERON:0000451	98.82	gold quality
minor salivary gland	UBERON:0001830	98.82	gold quality
nasal cavity mucosa	UBERON:0001826	98.81	gold quality
esophagus	UBERON:0001043	98.80	gold quality
placenta	UBERON:0001987	98.80	gold quality
vermiform appendix	UBERON:0001154	98.79	gold quality
connective tissue	UBERON:0002384	98.79	gold quality
middle temporal gyrus	UBERON:0002771	98.79	gold quality
stromal cell of endometrium	CL:0002255	98.78	gold quality
bronchial epithelial cell	CL:0002328	98.77	gold quality
apex of heart	UBERON:0002098	98.77	gold quality
right atrium auricular region	UBERON:0006631	98.77	gold quality
upper lobe of lung	UBERON:0008948	98.77	gold quality
body of pancreas	UBERON:0001150	98.76	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-111727	yes	1462.91
E-MTAB-7008	yes	1306.66
E-MTAB-8559	yes	556.85
E-MTAB-6379	no	1679.10
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Liver	tissue	247.3	medium
Heart muscle	tissue	226.5	medium
Tongue	tissue	221.1
Tonsil	tissue	220.4	low
Thymus	tissue	217.5
Epididymis	tissue	212.8	medium
Parathyroid gland	tissue	205.3	not detected
Ovary	tissue	203.4	low
Lymph node	tissue	200.1	low
Urinary bladder	tissue	183.7	medium
Seminal vesicle	tissue	179.6
Smooth muscle	tissue	179.0	not detected
Skeletal muscle	tissue	178.0	not detected
Placenta	tissue	175.8	medium
Kidney	tissue	173.9	medium
Pituitary gland	tissue	170.6
Fallopian tube	tissue	167.7	medium
Bone marrow	tissue	163.1	low
Breast	tissue	160.6	low
Salivary gland	tissue	159.8	not detected
Rectum	tissue	156.2	low
Adrenal gland	tissue	154.2	medium
Skin 1	tissue	153.8	low
Vagina	tissue	152.6	not detected
Appendix	tissue	147.8	medium
Colon	tissue	147.7	low
Thyroid gland	tissue	146.1	low
Cervix	tissue	143.3	not detected
Frontal cortex	tissue	142.7
Adipose tissue	tissue	141.8	low
Duodenum	tissue	141.1	medium
Esophagus	tissue	139.7	low
Prostate	tissue	139.0	medium
Pancreas	tissue	135.5	medium
Small intestine	tissue	133.7	medium
Gallbladder	tissue	130.4	not detected
Caudate putamen	tissue	130.3
Spleen	tissue	129.7	low
Spinal cord	tissue	125.5
Endometrium 1	tissue	124.7	medium
Superior colliculi	tissue	122.6
Pons	tissue	121.6
Lung	tissue	118.6	high
Thalamus	tissue	118.3
Locus coeruleus	tissue	117.8
Medulla oblongata	tissue	113.7
Midbrain	tissue	112.2
Stomach 1	tissue	105.3	high
Substantia nigra	tissue	105.2
Hippocampal formation	tissue	100.3
Hypothalamus	tissue	98.9
Choroid plexus	tissue	97.8
Corpus callosum	tissue	94.3
Nucleus accumbens	tissue	89.8
Septum	tissue	89.0
Cerebral cortex	tissue	87.5	medium
Retina	tissue	87.5
Somatosensory cortex	tissue	87.5
Putamen	tissue	85.8
Periaqueductal gray	tissue	84.9

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Blood vessel (225.3), Lateral funiculus (white matter) (132.8), Ventral spinal cord (125.5), Anterior funiculus (white matter) (124.2), Lateral hypothalamic area (121.7).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting PSMB4 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

13 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4480	99.42	66.02	735
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-520G-3P	98.91	67.38	1914
HSA-MIR-520H	98.91	67.38	1914
HSA-MIR-4782-5P	98.35	69.33	1474
HSA-MIR-5706	98.35	69.33	1463
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-5007-5P	97.95	64.71	614

Functional genomics

gnomAD constraint: pLI 0.128, LOEUF 0.659, missense Z 0.796 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000290541 — one region, missense o/e 0.95. DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): Panc 08.13 (-3.884), HCC1937 (-3.522), Panc 10.05 (-3.454), SW837 (-3.33), OUMS-23 (-3.313), OE33 (-3.295), OCI-LY-19 (-3.258), S-117 (-3.2), HT-144 (-3.195), AsPC-1 (-3.191), RPMI-7951 (-3.177), CAL-120 (-3.149), HUP-T3 (-3.14), NCI-H520 (-3.133), NCI-H1650 (-3.099).

Literature-anchored findings (GeneRIF, showing 10)

• While 26 proteasome dysfunction is observed in Parkinson’s disease (PD), diverse mutations in the parkin gene are linked to early-onset autosomal-recessive forms of familial PD. (PMID:20810900)
• proteasome subunit beta type 4 (PSMB4), the beta7 subunit of the 20S core complex, was identified as a direct binding partner of CRBN. (PMID:23026050)
• Data indicate that recruitment of proteasomes into mutant huntingtin (mHTT) protein initiated inclusion bodies (IBs) was observed when the PSMB4-GFP was co-expressed with mHTT. (PMID:24291262)
• Taken together, our results demonstrated that PSMB4 regulated MM cell growth in part by activating NF-kappaB-miR-21 signaling, which may represent promising targets for novel specific therapies. (PMID:25656574)
• Our findings implied that PSMB4 is involved in the progression of EOC (epithelial ovarian cancer) and could serve as potential therapeutical target of EOC. These data suggested that PSMB4 may promote cell proliferation via the NF-kappaB-target gene in EOC (epithelial ovarian cancer) (PMID:26439929)
• We further identified miR-148b as a negative regulator of proteasome beta-4 subunit. Enforced expression of miR-148b resulted in vitro growth inhibition of melanoma cells, whereas this inhibition was further abolished by enforced expression of proteasome beta-4 subunit (PMID:28656878)
• PSMB4 knockdown decreased the expression levels of MMP2, MMP9 and cathepsin B and decreased proliferation, migration and invasion abilities in human GBM cells. (PMID:29414809)
• High PSMB4 expression is associated with breast cancer. (PMID:30066880)
• FoxM1 transcriptionally activates the PSMB4 expression level in cervical cancer cells. (PMID:31699366)
• Bassoon inhibits proteasome activity via interaction with PSMB4. (PMID:32651614)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	psmb4	ENSDARG00000054696
mus_musculus	Psmb4	ENSMUSG00000005779
rattus_norvegicus	Psmb4	ENSRNOG00000020979
drosophila_melanogaster	Prosbeta7	FBGN0250746
caenorhabditis_elegans	pbs-7	WBGENE00003953

Paralogs (18): PSMB1 (ENSG00000008018), PSMA4 (ENSG00000041357), PSMA3 (ENSG00000100567), PSMB5 (ENSG00000100804), PSMA6 (ENSG00000100902), PSMA7 (ENSG00000101182), PSMA2 (ENSG00000106588), PSMB2 (ENSG00000126067), PSMA1 (ENSG00000129084), PSMB7 (ENSG00000136930), PSMB6 (ENSG00000142507), PSMA5 (ENSG00000143106), PSMA8 (ENSG00000154611), PSMB8 (ENSG00000204264), PSMB10 (ENSG00000205220), PSMB11 (ENSG00000222028), PSMB9 (ENSG00000240065), PSMB3 (ENSG00000277791)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	Q3T108	95.1%	Diamond
Sus scrofa	Q29384	93.5%	Diamond
Xenopus laevis	P28024	74.2%	Diamond
Dictyostelium discoideum	Q556Q0	48.8%	Diamond
Arabidopsis thaliana	Q7DLR9	48.8%	Diamond
Schizosaccharomyces pombe 972h-	Q9USQ9	47.3%	Diamond
Saccharomyces cerevisiae S288C	P30657	46.9%	Diamond
Encephalitozoon cuniculi GB-M1	Q8SS01	37.8%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
POGZ	protein-coding	23126
CGN	protein-coding	57530
MIR554	ncRNA	693139
TUFT1	protein-coding	7286
SELENBP1	protein-coding	8991
ZNF687-AS1	ncRNA	100507670
PI4KB	protein-coding	5298
ZNF687	protein-coding	57592
RFX5	protein-coding	5993
RFX5-AS1	ncRNA	101927886

Protein

Protein identifiers

Proteasome subunit beta type-4 — P28070 (reviewed: P28070)

Alternative names: 26 kDa prosomal protein, Macropain beta chain, Multicatalytic endopeptidase complex beta chain, Proteasome beta chain, Proteasome chain 3, Proteasome subunit beta-7

All UniProt accessions (2): P28070, A0A140VK46

UniProt curated annotations — full annotation on UniProt →

Function. Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1.

Subunit / interactions. The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings. The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits. The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7. Forms a ternary complex with SMAD1 and OAZ1 before PSMB4 is incorporated into the 20S proteasome. Interacts with PRPF19. (Microbial infection) Interacts with HTLV-1 Tax protein. (Microbial infection) Interacts with HIV-1 Nef and Tat proteins.

Subcellular location. Cytoplasm. Nucleus.

Disease relevance. Proteasome-associated autoinflammatory syndrome 3 (PRAAS3) [MIM:617591] An autoinflammatory disorder characterized by onset in early infancy and recurrent fever, nodular dermatitis, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and immune dysregulation. Variable accompanying features may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications. PRAAS3 inheritance is autosomal recessive or digenic. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.

Induction. Up-regulated in fibrolamellar carcinomas.

Similarity. Belongs to the peptidase T1B family.

RefSeq proteins (1): NP_002787* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001353	Proteasome_sua/b	Family
IPR016050	Proteasome_bsu_CS	Conserved_site
IPR016295	Proteasome_beta4	Family
IPR023333	Proteasome_suB-type	Family
IPR029055	Ntn_hydrolases_N	Homologous_superfamily

Pfam: PF00227

UniProt features (34 total): strand 17, helix 7, sequence variant 4, modified residue 3, propeptide 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

showing 30 of 150 structures by resolution:

PDB	Title	Method	Resolution (Å)
5LE5	Native human 20S proteasome at 1.8 Angstrom	X-RAY DIFFRACTION	1.8
5LEY	Human 20S proteasome complex with Oprozomib at 1.9 Angstrom	X-RAY DIFFRACTION	1.9
5LF4	Human 20S proteasome complex with Delanzomib at 2.0 Angstrom	X-RAY DIFFRACTION	1.99
5LF1	Human 20S proteasome complex with Dihydroeponemycin at 2.0 Angstrom	X-RAY DIFFRACTION	2
5LF7	Human 20S proteasome complex with Ixazomib at 2.0 Angstrom	X-RAY DIFFRACTION	2
8UD9	Structure of human constitutive 20S proteasome complexed with the inhibitor TDI-8304	ELECTRON MICROSCOPY	2.04
5LF6	Human 20S proteasome complex with Z-LLY-ketoaldehyde at 2.1 Angstrom	X-RAY DIFFRACTION	2.07
5LF3	Human 20S proteasome complex with Bortezomib at 2.1 Angstrom	X-RAY DIFFRACTION	2.1
8BZL	Human 20S Proteasome in complex with peptide activator peptide BLM42	X-RAY DIFFRACTION	2.14
5LEZ	Human 20S proteasome complex with Oprozomib in Mg-Acetate at 2.2 Angstrom	X-RAY DIFFRACTION	2.19
5LEX	Native human 20S proteasome in Mg-Acetate at 2.2 Angstrom	X-RAY DIFFRACTION	2.2
7AWE	HUMAN IMMUNOPROTEASOME 20S PARTICLE IN COMPLEX WITH …	X-RAY DIFFRACTION	2.29
5LF0	Human 20S proteasome complex with Epoxomicin at 2.4 Angstrom	X-RAY DIFFRACTION	2.41
7B12	HUMAN IMMUNOPROTEASOME 20S PARTICLE IN COMPLEX WITH …	X-RAY DIFFRACTION	2.43
9K53	Structure of substrate-engaged human 26S proteasome RP-CP subcomplex in state ED2.1	ELECTRON MICROSCOPY	2.5
9HMN	CryoEM structure of human 20S proteasome in complex with proteasome inhibitor …	ELECTRON MICROSCOPY	2.55
4R3O	Human Constitutive 20S Proteasome	X-RAY DIFFRACTION	2.6
6RGQ	Human 20S Proteasome	ELECTRON MICROSCOPY	2.6
9YUZ	Structure of the human 20S proteasome in complex with a beta5-selective covalent …	ELECTRON MICROSCOPY	2.6
8CVR	Human 20S proteasome with MG-132	ELECTRON MICROSCOPY	2.7
6KWY	human PA200-20S complex	ELECTRON MICROSCOPY	2.72
9MBP	Substrate-engaged human 26S proteasome bound to midnolin with RPT1 at top of spiral …	ELECTRON MICROSCOPY	2.75
6E5B	Human Immunoproteasome 20S particle in complex with compound 1	X-RAY DIFFRACTION	2.77
7NAN	Human 20S proteasome core particle	ELECTRON MICROSCOPY	2.8
8TM6	Human premature 20S proteasome assembly intermediate	ELECTRON MICROSCOPY	2.8
9NKG	Structure of substrate engaged MIDN-bound human 26S proteasome, EB-MIDN (Composite map)	ELECTRON MICROSCOPY	2.8
8QYO	Human proteasome 20S core particle	ELECTRON MICROSCOPY	2.84
8QYN	Human 20S proteasome assembly intermediate structure 5	ELECTRON MICROSCOPY	2.88
4R67	Human constitutive 20S proteasome in complex with carfilzomib	X-RAY DIFFRACTION	2.89
7NAO	Human PA28-20S proteasome complex	ELECTRON MICROSCOPY	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P28070-F1	87.70	0.81

Human Protein Atlas

Protein class: Enzymes, Peptidases, Threonine-type peptidases, Predicted intracellular proteins, Plasma proteins, Disease related genes, Potential drug targets, Human disease related genes, Essential proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; mitochondria

Antibody reliability (HPA): IH approved · IF supported

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 (3)

Type	Positions
N-acetylmethionine	1
Phosphoserine	26
Phosphotyrosine	102

Function

Pathways and Gene Ontology

Reactome pathways

57 curated (TAS) of 172; 13 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

showing 60 of 172 pathways:

ID	Pathway	Evidence
R-HSA-5678895	Defective CFTR causes cystic fibrosis ⚕	curated
R-HSA-5362768	Hh mutants are degraded by ERAD ⚕	curated
R-HSA-180585	Vif-mediated degradation of APOBEC3G ⚕	curated
R-HSA-180534	Vpu mediated degradation of CD4 ⚕	curated
R-HSA-382556	ABC-family protein mediated transport	curated
R-HSA-9931269	AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)	curated
R-HSA-174154	APC/C:Cdc20 mediated degradation of Securin	curated
R-HSA-174178	APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1	curated
R-HSA-450408	AUF1 (hnRNP D0) binds and destabilizes mRNA	curated
R-HSA-1169091	Activation of NF-kappaB in B cells	curated
R-HSA-9912633	Antigen processing: Ub, ATP-independent proteasomal degradation	curated
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation	curated
R-HSA-68867	Assembly of the pre-replicative complex	curated
R-HSA-4608870	Asymmetric localization of PCP proteins	curated
R-HSA-174084	Autodegradation of Cdh1 by Cdh1:APC/C	curated
R-HSA-349425	Autodegradation of the E3 ubiquitin ligase COP1	curated
R-HSA-69017	CDK-mediated phosphorylation and removal of Cdc6	curated
R-HSA-5607764	CLEC7A (Dectin-1) signaling	curated
R-HSA-174184	Cdc20:Phospho-APC/C mediated degradation of Cyclin A	curated
R-HSA-5607761	Dectin-1 mediated noncanonical NF-kB signaling	curated
R-HSA-4641257	Degradation of AXIN	curated
R-HSA-9766229	Degradation of CDH1	curated
R-HSA-4641258	Degradation of DVL	curated
R-HSA-5610780	Degradation of GLI1 by the proteasome	curated
R-HSA-195253	Degradation of beta-catenin by the destruction complex	curated
R-HSA-202424	Downstream TCR signaling	curated
R-HSA-8854050	FBXL7 down-regulates AURKA during mitotic entry and in early mitosis	curated
R-HSA-2871837	FCERI mediated NF-kB activation	curated
R-HSA-69481	G2/M Checkpoints	curated
R-HSA-5610785	GLI3 is processed to GLI3R by the proteasome	curated
R-HSA-9762114	GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2	curated
R-HSA-9929356	GSK3B-mediated proteasomal degradation of PD-L1(CD274)	curated
R-HSA-5632684	Hedgehog ‘on’ state	curated
R-HSA-5358346	Hedgehog ligand biogenesis	curated
R-HSA-9020702	Interleukin-1 signaling	curated
R-HSA-9755511	KEAP1-NFE2L2 pathway	curated
R-HSA-5687128	MAPK6/MAPK4 signaling	curated
R-HSA-5676590	NIK–>noncanonical NF-kB signaling	curated
R-HSA-8951664	Neddylation	curated
R-HSA-9974237	Negative Regulation of DNA Double Strand Break Response	curated
R-HSA-68949	Orc1 removal from chromatin	curated
R-HSA-1234176	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	curated
R-HSA-8939236	RUNX1 regulates transcription of genes involved in differentiation of HSCs	curated
R-HSA-8948751	Regulation of PTEN stability and activity	curated
R-HSA-5658442	Regulation of RAS by GAPs	curated
R-HSA-8941858	Regulation of RUNX3 expression and activity	curated
R-HSA-350562	Regulation of ornithine decarboxylase (ODC)	curated
R-HSA-187577	SCF(Skp2)-mediated degradation of p27/p21	curated
R-HSA-174113	SCF-beta-TrCP mediated degradation of Emi1	curated
R-HSA-9929491	SPOP-mediated proteasomal degradation of PD-L1(CD274)	curated
R-HSA-2467813	Separation of Sister Chromatids	curated
R-HSA-5668541	TNFR2 non-canonical NF-kB pathway	curated
R-HSA-8852276	The role of GTSE1 in G2/M progression after G2 checkpoint	curated
R-HSA-5689603	UCH proteinases	curated
R-HSA-5689880	Ub-specific processing proteases	curated
R-HSA-69601	Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A	curated
R-HSA-75815	Ubiquitin-dependent degradation of Cyclin D	curated
R-HSA-5619084	ABC transporter disorders ⚕	—
R-HSA-1643685	Disease ⚕	—
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers ⚕	—

MSigDB gene sets: 542 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, MORF_MTA1, GOBP_REGULATION_OF_CELL_ACTIVATION, REACTOME_DNA_REPLICATION, REACTOME_SIGNALING_BY_NOTCH, REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, JI_RESPONSE_TO_FSH_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_INFLAMMATORY_RESPONSE_TO_ANTIGENIC_STIMULUS, MORF_MBD4, MORF_RAB5A, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE

GO Biological Process (25): immune system process (GO:0002376), negative regulation of inflammatory response to antigenic stimulus (GO:0002862), DNA repair (GO:0006281), apoptotic process (GO:0006915), DNA damage response (GO:0006974), response to oxidative stress (GO:0006979), spermatogenesis (GO:0007283), proteasomal protein catabolic process (GO:0010498), proteasomal ubiquitin-independent protein catabolic process (GO:0010499), flagellated sperm motility (GO:0030317), positive regulation of type II interferon production (GO:0032729), positive regulation of interleukin-2 production (GO:0032743), positive regulation of tumor necrosis factor production (GO:0032760), response to type II interferon (GO:0034341), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), CD8-positive, alpha-beta T cell differentiation (GO:0043374), thymic T cell selection (GO:0045061), T-helper 1 cell differentiation (GO:0045063), negative regulation of regulatory T cell differentiation (GO:0045590), meiotic cell cycle (GO:0051321), regulation of proteasomal protein catabolic process (GO:0061136), cellular response to type I interferon (GO:0071357), T-helper 17 cell differentiation (GO:0072539), CD8-positive, alpha-beta T cell homeostasis (GO:0160165), regulation of G1/S transition of mitotic cell cycle (GO:2000045)

GO Molecular Function (2): lipopolysaccharide binding (GO:0001530), protein binding (GO:0005515)

GO Cellular Component (11): proteasome complex (GO:0000502), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), proteasome core complex (GO:0005839), synaptic vesicle (GO:0008021), proteasome core complex, beta-subunit complex (GO:0019774), proteasome storage granule (GO:0034515), ciliary basal body (GO:0036064), extracellular exosome (GO:0070062)

Reactome top-level categories

18 top-level categories:

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
Stabilization of p53	1
Metabolism of polyamines	1
Transport of small molecules	1

GO top-level categories

showing 60 of 65 GO namespaces:

Category	Terms
cellular anatomical structure	3
proteasomal protein catabolic process	2
positive regulation of cytokine production	2
intracellular protein-containing complex	2
intracellular anatomical structure	2
cytoplasm	2
biological_process	1
inflammatory response to antigenic stimulus	1
regulation of inflammatory response to antigenic stimulus	1
negative regulation of inflammatory response	1
negative regulation of immune response	1
DNA metabolic process	1
DNA damage response	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cellular response to stress	1
response to stress	1
developmental process involved in reproduction	1
male gamete generation	1
protein catabolic process	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
type II interferon production	1
regulation of type II interferon production	1
interleukin-2 production	1
regulation of interleukin-2 production	1
tumor necrosis factor production	1
regulation of tumor necrosis factor production	1
positive regulation of tumor necrosis factor superfamily cytokine production	1
response to cytokine	1
innate immune response	1
ubiquitin-dependent protein catabolic process	1
CD8-positive, alpha-beta T cell activation	1
alpha-beta T cell differentiation	1
T cell differentiation in thymus	1
T cell selection	1
alpha-beta T cell activation involved in immune response	1
T cell differentiation involved in immune response	1
T-helper 1 type immune response	1
T-helper cell differentiation	1
regulatory T cell differentiation	1
negative regulation of T cell differentiation	1
regulation of regulatory T cell differentiation	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
lipid binding	1
carbohydrate derivative binding	1
binding	1
endopeptidase complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
proteasome complex	1
catalytic complex	1
exocytic vesicle	1
presynapse	1
proteasome core complex	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 11 of 39 annotations. The rest are phylogenetic / computational / electronic (IEA).

11 experimentally-supported GO terms:

GO term	NS	Evidence
proteasomal protein catabolic process	BP	direct assay
proteasome-mediated ubiquitin-dependent protein catabolic process	BP	direct assay
regulation of proteasomal protein catabolic process	BP	direct assay
response to oxidative stress	BP	direct assay
ciliary basal body	CC	direct assay
cytoplasm	CC	direct assay
extracellular exosome	CC	high-throughput assay
nucleoplasm	CC	direct assay
nucleus	CC	direct assay
proteasome complex	CC	direct assay
proteasome core complex	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 2,564 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PSMB4	PSMB2	P31145	977
PSMB4	PSMB3	P31147	957
PSMB4	PSMB5	P28074	913
PSMB4	PSMB9	P28065	887
PSMB4	PSMA3	P25788	812
PSMB4	PSMB1	P20618	762
PSMB4	PSMA1	P25786	728
PSMB4	PSMA6	P34062	712
PSMB4	PSMA5	P28066	711
PSMB4	PSMB6	P28072	706
PSMB4	PSMC2	P35998	702
PSMB4	PSMA4	P25789	697
PSMB4	POMP	Q9Y244	686
PSMB4	PSMB7	Q99436	682
PSMB4	LTAP1	Q9BWL3	674

IntAct

Human interaction partners of PSMB4 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 48 partners by confidence:

Partner	Interaction type	MIscore	Records
PSMB1	physical association	0.800	5
PSMB7	physical association	0.800	2
POMP	physical association	0.750	1
PSMA7	association	0.730	2
SMAD1	physical association	0.670	4
PSMA3	physical association	0.670	3
PSMB5	physical association	0.660	1
ATXN1	physical association	0.560	6
TLE5	physical association	0.560	5
AIRIM	physical association	0.560	3
BCL6	physical association	0.560	3
CCDC57	physical association	0.560	3
CNOT2	physical association	0.560	3
DTX2	physical association	0.560	3
FSD2	physical association	0.560	3
GABARAPL1	physical association	0.560	3
GCA	physical association	0.560	3
HEMK1	physical association	0.560	3
HGS	physical association	0.560	3
KANK2	physical association	0.560	3
KRTAP19-5	physical association	0.560	3
MYOZ3	physical association	0.560	3
P4HA3	physical association	0.560	3
PFDN5	physical association	0.560	3
PITX2	physical association	0.560	3
PKN1	physical association	0.560	3
PRKN	physical association	0.560	3
PROP1	physical association	0.560	3
RNF11	physical association	0.560	3
SOHLH1	physical association	0.560	3

BioGRID (519 interactions; top human partners by supporting records): PSMB7 (Affinity Capture-MS; 20 records), PSMA2 (Affinity Capture-MS; 14 records), PSMB1 (Affinity Capture-MS; 12 records), PSMA4 (Affinity Capture-MS; 11 records), PSMA1 (Affinity Capture-MS; 10 records), PSMA3 (Two-hybrid; 10 records), PSMA5 (Affinity Capture-MS; 10 records), PSMB5 (Affinity Capture-MS; 10 records), PSMA6 (Affinity Capture-MS; 9 records), PSMA7 (Affinity Capture-MS; 9 records), PSMB2 (Affinity Capture-MS; 9 records), PSMB3 (Affinity Capture-MS; 9 records), PSMB6 (Affinity Capture-MS; 9 records), PSMD14 (Co-fractionation; 8 records), FBXO7 (Affinity Capture-MS; 6 records)

SIGNOR signaling

1 signaling interactions:

A	Effect	B	Mechanism
PSMB4	“form complex”	“26S Proteasome”	binding

Protein complexes (CORUM) (5)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

5 complexes by size:

Complex	Subunits	Members
★ PA700-20S-PA28 complex	36	PSMA5, PSMD4, PSMD6, PSMD9, PSME1, PSME2, PSMD11, PSMB1, PSMB4, PSMC1, PSMA3, PSMB5, PSMD10, PSMA7, PSMC5, PSMD14, PSMD7, PSMA6, PSMB6, PSMD12, PSMD3, PSMD1, PSMA4, PSMB7, PSMC3, PSMC4, PSMC6, PSMD8, PSMB3, PSMC2, PSMD13, PSMA1, PSMA2, PSMB2, PSMD2, PSMD5
★ 26S proteasome	22	PSMA2, PSMA7, PSMB3, PSMA5, PSMA6, PSMB4, PSMB7, PSMC1, PSMC2, PSMC5, PSMC6, PSMA3, PSMB2, PSMB5, PSMC3, PSMC4, PSMD13, PSMD4, PSMA1, PSMA4, PSMB1, PSMB6
★ PA28-20S proteasome	16	PSMA6, PSMB5, PSMA2, PSMA7, PSMB2, PSMB4, PSME1, PSMA3, PSMB1, PSMB3, PSMB6, PSME2, PSMA1, PSMA5, PSMB7, PSMA4
★ PA28gamma-20S proteasome	15	PSMB5, PSMA5, PSMB1, PSMB4, PSME3, PSMA1, PSMA4, PSMA7, PSMB2, PSMA2, PSMA3, PSMB6, PSMB7, PSMA6, PSMB3
★ 20S proteasome	14	PSMA5, PSMA6, PSMB1, PSMB6, PSMA2, PSMA7, PSMB2, PSMB3, PSMB4, PSMB5, PSMB7, PSMA1, PSMA3, PSMA4

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 48 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
Antigen processing: Ub, ATP-independent proteasomal degradation	5	92.1×	8e-09
Regulation of activated PAK-2p34 by proteasome mediated degradation	7	62.9×	5e-10
Regulation of ornithine decarboxylase (ODC)	7	61.4×	5e-10
Vpu mediated degradation of CD4	7	60.0×	5e-10
Autodegradation of the E3 ubiquitin ligase COP1	7	60.0×	5e-10
Ubiquitin-dependent degradation of Cyclin D	7	60.0×	5e-10
Cross-presentation of soluble exogenous antigens (endosomes)	7	57.3×	5e-10
Vif-mediated degradation of APOBEC3G	7	57.3×	5e-10

GO biological processes:

GO term	Partners	Fold	FDR
proteasome-mediated ubiquitin-dependent protein catabolic process	8	9.5×	7e-04

Disease & clinical

Genetic variants

Variant evidence for PSMB4: 300 ClinVar records (2 pathogenic / likely pathogenic); 2 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	157
Likely benign	105
Benign	8

Top pathogenic / likely-pathogenic (2)

Showing all 2 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
548955	NM_002796.3(PSMB4):c.636_644del (p.Asp212_Val214del)	Pathogenic	no assertion criteria provided	1
548958	NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter)	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore PSMB4’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 23 predictions of 339):

Position(s)	Effect	Δscore	Sites
1:151399980	acceptor_loss	1.0000
1:151400188–151400189	donor_loss	1.0000	5
1:151400232	donor_gain	1.0000
1:151401631–151401632	donor_loss	1.0000	4
1:151399728–151399729	donor_loss	0.9900	6
1:151399973	acceptor_gain	0.9900
1:151399979	acceptor_loss	0.9900	2
1:151400168	donor_gain	0.9900
1:151400189	donor_loss	0.9900
1:151400209	donor_gain	0.9900

AlphaMissense

778 missense substitutions predicted likely pathogenic (of 1,700 scored), across 188 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D70	8	0.995	0.999
D104	8	0.995	0.998
D225	8	0.994	0.997
D101	8	0.986	0.997
D171	8	0.945	0.995
D124	8	0.922	0.963
N153	8	0.901	0.996
W254	7	0.995	0.999
F81	7	0.992	0.998
W152	7	0.978	0.996
F166	7	0.974	0.997
W136	7	0.972	0.995
F61	7	0.971	0.998
F105	7	0.966	0.990
F263	7	0.933	0.989
H134	7	0.920	0.993
Q106	7	0.907	0.987
R139	7	0.897	0.953
N91	7	0.850	0.992
F232	7	0.838	0.982

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

4 prognostic cancer types:

Cancer	Prognostic	p-value
Breast Invasive Carcinoma (validation)	favorable	6.5e-06
Kidney Renal Clear Cell Carcinoma (validation)	unfavorable	1.59e-05
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	0.000422
Kidney Renal Papillary Cell Carcinoma (TCGA)	unfavorable	0.000514

Disease associations

OMIM: gene MIM:602177 | disease phenotypes: MIM:617591, MIM:256040

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
proteasome-associated autoinflammatory syndrome 3	Limited	Autosomal recessive	2

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (5 panels, 3 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

5 panels:

Panel	Rating
Autoinflammatory disorders	green
Childhood interstitial lung disease	green
Severe insulin resistance and lipodystrophy syndromes	green
COVID-19 research	amber
Primary immunodeficiency or monogenic inflammatory bowel disease	amber

Mondo (2): proteasome-associated autoinflammatory syndrome 3 (MONDO:0054699), proteasome-associated autoinflammatory syndrome 1 (MONDO:0054698)

Orphanet (4): Nakajo-Nishimura syndrome (Orphanet:2615), Proteasome-associated autoinflammatory syndrome (Orphanet:324977), JMP syndrome (Orphanet:324999), CANDLE syndrome (Orphanet:325004)

HPO phenotypes

26 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000246	Sinusitis
HP:0000509	Conjunctivitis
HP:0000956	Acanthosis nigricans
HP:0000988	Skin rash
HP:0001369	Arthritis
HP:0001371	Flexion contracture
HP:0001508	Failure to thrive
HP:0001744	Splenomegaly
HP:0001873	Thrombocytopenia
HP:0001888	Decreased total lymphocyte count
HP:0001903	Anemia
HP:0001954	Recurrent fever
HP:0002155	Hypertriglyceridemia
HP:0002240	Hepatomegaly
HP:0002716	Lymphadenopathy
HP:0002719	Recurrent infections
HP:0002829	Arthralgia
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003565	Elevated erythrocyte sedimentation rate
HP:0009125	Lipodystrophy
HP:0010702	Increased circulating immunoglobulin concentration
HP:0012490	Panniculitis
HP:0025131	Finger swelling
HP:0100539	Periorbital edema
HP:0100614	Myositis

GWAS associations

2 associations:

Study	Trait	p-value
GCST002041_2	Blood trace element (Cu levels)	3e-20
GCST005951_48	Body mass index	4e-9

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:0005267	serum copper measurement
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (3): CHEMBL2364701 (PROTEIN COMPLEX), CHEMBL3831201 (PROTEIN COMPLEX GROUP), CHEMBL4879435 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 43,320 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

5 molecules by phase:

Molecule	Name	Phase	Patents
CHEMBL325041	BORTEZOMIB	4	13,415
CHEMBL451887	CARFILZOMIB	4	13,156
CHEMBL2141296	IXAZOMIB	3	6,376
CHEMBL371405	MARIZOMIB	3	7,520
CHEMBL2103884	OPROZOMIB	2	2,853

PharmGKB: 1 entry (CPIC guideline: no)

PharmGKB variant annotations

Per-publication pharmacogenomic findings for this gene (significant associations).

1 published findings:

Variant	Drug(s)	Category	Finding	PMID
rs2296840		Other	Allele T is associated with increased risk of Depressive Disorder, Major.	PMID:18504423

Binding affinities (BindingDB)

151 measured of 196 human assays (196 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
Cinnabaramide G	IC50	0.6 nM
CHEMBL4102324	IC50	0.92 nM
CINNABARAMIDE A	IC50	1 nM
MARIZOMIB	IC50	1.3 nM
CHEMBL4460323	IC50	1.5 nM
Alpha-ketocarbonyl derivative	IC50	2 nM
(R)-3-methyl-1-((S)-3-phenyl-2-(pyrazine-6-carboxamido)propanamido)butylboronic acid	IC50	2.4 nM
CHEMBL4517600	IC50	2.4 nM
CHEMBL4587036	IC50	2.5 nM
CHEMBL4444107	IC50	3.4 nM
CHEMBL5197285	IC50	3.4 nM
CHEMBL4541038	IC50	3.6 nM
CHEMBL4877708	IC50	3.8 nM
CHEMBL4547405	IC50	3.9 nM
CHEMBL5171225	IC50	4 nM
CHEMBL4581126	IC50	4.3 nM
CHEMBL4542373	IC50	4.6 nM
CHEMBL4558648	IC50	4.6 nM
CHEMBL4467618	IC50	4.8 nM
CHEMBL5186240	IC50	5.2 nM
Alpha-ketocarbonyl derivative	IC50	6 nM
Cinnabaramide F	IC50	6 nM
CHEMBL4447701	IC50	6.4 nM
CHEMBL4435814	IC50	6.4 nM
CHEMBL4436430	IC50	6.5 nM
CHEMBL432281	IC50	7 nM
CHEMBL5202627	IC50	7 nM
CHEMBL5208573	IC50	7.2 nM
CHEMBL4559271	IC50	7.7 nM
CHEMBL5172645	IC50	8.1 nM
CHEMBL5179570	IC50	8.4 nM
CHEMBL5209077	IC50	8.6 nM
CHEMBL5173459	IC50	8.9 nM
CHEMBL5188065	IC50	9.3 nM
CHEMBL5196378	IC50	9.3 nM
CHEMBL4572638	IC50	9.4 nM
CHEMBL5201055	IC50	9.4 nM
CHEMBL4441018	IC50	9.5 nM
Cinnabaramide C	IC50	12 nM
TP-103	IC50	14 nM
CHEMBL4578081	IC50	14 nM
MLN2238	IC50	15 nM
CHEMBL4443333	IC50	15 nM
CHEMBL4864661	IC50	16 nM
CHEMBL4875208	IC50	16 nM
CHEMBL4557130	IC50	17 nM
CHEMBL27225	IC50	18 nM
TP-108	IC50	18 nM
CHEMBL2114122	IC50	20 nM
TP-109	IC50	20 nM

ChEMBL bioactivities

313 potent at pChembl≥5 of 339 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.22	IC50	0.6	nM	CINNABARAMIDE G
9.22	Ki	0.6	nM	CHEMBL5624541
9.22	Ki	0.6	nM	BORTEZOMIB
9.04	IC50	0.92	nM	CHEMBL4102324
9.00	IC50	1	nM	CINNABARAMIDE A
8.89	IC50	1.3	nM	MARIZOMIB
8.82	IC50	1.5	nM	CHEMBL4460323
8.70	IC50	2	nM	CHEMBL307387
8.66	IC50	2.2	nM	CHEMBL5419917
8.62	IC50	2.4	nM	CHEMBL4517600
8.62	IC50	2.4	nM	BORTEZOMIB
8.62	IC50	2.4	nM	CHEMBL5413513
8.60	IC50	2.5	nM	CHEMBL4587036
8.59	IC50	2.56	nM	BORTEZOMIB
8.57	IC50	2.7	nM	CHEMBL3237863
8.57	IC50	2.7	nM	CHEMBL5394365
8.52	IC50	3	nM	BORTEZOMIB
8.47	IC50	3.4	nM	CHEMBL4444107
8.47	IC50	3.4	nM	CHEMBL6143686
8.46	IC50	3.43	nM	CHEMBL5197285
8.44	IC50	3.6	nM	CHEMBL4541038
8.41	IC50	3.9	nM	CHEMBL3237862
8.41	IC50	3.9	nM	CHEMBL4547405
8.40	IC50	4	nM	CHEMBL5406440
8.39	IC50	4.1	nM	CHEMBL3237864
8.39	IC50	4.1	nM	CHEMBL3237867
8.39	IC50	4.03	nM	CHEMBL5171225
8.37	IC50	4.28	nM	CHEMBL4581126
8.34	IC50	4.6	nM	CHEMBL4542373
8.34	IC50	4.6	nM	CHEMBL4558648
8.32	IC50	4.8	nM	CHEMBL3237873
8.32	IC50	4.8	nM	CHEMBL4467618
8.30	IC50	5	nM	CHEMBL5398681
8.29	IC50	5.1	nM	CHEMBL3237865
8.29	IC50	5.15	nM	CHEMBL5186240
8.28	IC50	5.2	nM	CHEMBL5429323
8.28	IC50	5.2	nM	CHEMBL5431451
8.25	IC50	5.6	nM	CHEMBL5423645
8.24	IC50	5.7	nM	CHEMBL3237866
8.24	IC50	5.7	nM	CHEMBL3237860
8.23	IC50	5.9	nM	CHEMBL3237868
8.22	IC50	6	nM	CINNABARAMIDE F
8.22	IC50	6	nM	CHEMBL5412037
8.22	IC50	6	nM	CHEMBL74336
8.20	IC50	6.3	nM	CHEMBL5440712
8.19	IC50	6.4	nM	CHEMBL4447701
8.19	IC50	6.4	nM	CHEMBL4435814
8.19	IC50	6.5	nM	CHEMBL4436430
8.19	IC50	6.5	nM	IXAZOMIB
8.16	IC50	6.91	nM	BORTEZOMIB

PubChem BioAssay actives

313 with measured affinity, of 1003 total; 50 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
methyl (2R)-2-acetamido-3-[(2R,3S,4R)-2-[(S)-[(1S)-cyclohex-2-en-1-yl]-hydroxymethyl]-4-hexyl-3-hydroxy-3-methyl-5-oxopyrrolidine-2-carbonyl]sulfanylpropanoate	277357: Inhibition of human 20S proteasome	ic50	0.0006	uM
[(1R)-1-[[(2S)-1-amino-1-oxo-3-phenylpropan-2-yl]-(pyrazine-2-carbonyl)amino]-3-methylbutyl]boronic acid	2131634: Binding affinity to 20s proteosome (unknown origin) assessed as inhibition constant	ki	0.0006	uM
Bortezomib	2205591: Inhibition of 20S proteasome (unknown origin)	ki	0.0006	uM
1-N-[(2S)-1-[[(2S)-1-[(2-chlorophenyl)methylamino]-1-oxo-4-phenylbutan-2-yl]amino]-4-(2,2-dimethylpropylamino)-1,4-dioxobutan-2-yl]-4-N-(1,3-thiazol-2-yl)piperidine-1,4-dicarboxamide	1903224: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-Leu Leu-Val-Tyr-AMC as substrate preincubated for 15 mins followed by substrate addition measured by fluorescence assay	ic50	0.0009	uM
(1R,4R,5S)-1-[(S)-[(1S)-cyclohex-2-en-1-yl]-hydroxymethyl]-4-hexyl-5-methyl-6-oxa-2-azabicyclo[3.2.0]heptane-3,7-dione	277357: Inhibition of human 20S proteasome	ic50	0.0010	uM
(1R,4R,5S)-4-(2-chloroethyl)-1-[(S)-[(1S)-cyclohex-2-en-1-yl]-hydroxymethyl]-5-methyl-6-oxa-2-azabicyclo[3.2.0]heptane-3,7-dione	1853759: Inhibition of 20S proteasome (unknown origin) by fluorescence based assay	ic50	0.0013	uM
1-N-[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]-4-N-(1,3-thiazol-2-yl)piperidine-1,4-dicarboxamide	1624025: Inhibition of human 20S proteasome preincubated for 15 mins followed by substrate addition	ic50	0.0015	uM
N-[5-[[amino(nitramido)methylidene]amino]-1-[(4-methyl-1-oxopentan-2-yl)amino]-1-oxopentan-2-yl]-2-cyclopentyl-10-(1,3-dioxoisoindol-2-yl)decanamide	3028: Compound was evaluated for inhibitory activity against 20S proteasome from human liver and brain	ic50	0.0020	uM
4-[(1R)-1-[[2-[[2,5-bis(trifluoromethyl)benzoyl]amino]-3-cyclopropylpropanoyl]amino]-3-methylbutyl]-2-methyl-3,5,10-trioxa-4-boratricyclo[5.2.1.02,6]decane-8-carboxylic acid	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	ic50	0.0022	uM
4-N-(4-benzoylphenyl)-1-N-[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]piperidine-1,4-dicarboxamide	1624025: Inhibition of human 20S proteasome preincubated for 15 mins followed by substrate addition	ic50	0.0024	uM
4-[(1R)-1-[[2-[[2,5-bis(trifluoromethyl)benzoyl]amino]-2-cyclopentylacetyl]amino]-3-methylbutyl]-2-methyl-3,5,10-trioxa-4-boratricyclo[5.2.1.02,6]decane-8-carboxylic acid	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	ic50	0.0024	uM
(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[2-[[(2S)-2-acetamido-3-(4-hydroxyphenyl)propanoyl]amino]acetyl]amino]-5-carbamimidamidopentanoyl]amino]-6-aminohexanoyl]amino]-6-aminohexanoyl]amino]-5-carbamimidamidopentanoyl]amino]-5-carbamimidamidopentanoyl]amino]-N-[(2S)-5-carbamimidamido-1-[[(2S)-5-carbamimidamido-1-[[(2S)-5-carbamimidamido-1-[[2-[[2-[[2-[[(2S)-4-methyl-1-[[(2S)-4-methyl-1-[[(2S)-4-methyl-1-oxopentan-2-yl]amino]-1-oxopentan-2-yl]amino]-1-oxopentan-2-yl]amino]-2-oxoethyl]amino]-2-oxoethyl]amino]-2-oxoethyl]amino]-1-oxopentan-2-yl]amino]-1-oxopentan-2-yl]amino]-1-oxopentan-2-yl]pentanediamide	1559513: Inhibition of human 20S proteasome using Suc-LLVY-AMC as substrate measured every 5 mins for 120 mins by fluorescence based assay	ic50	0.0025	uM
4-[(1R)-1-[[2-[[2,5-bis(trifluoromethyl)benzoyl]amino]-2-cyclopropylacetyl]amino]-3-methylbutyl]-2-methyl-3,5,10-trioxa-4-boratricyclo[5.2.1.02,6]decane-8-carboxylic acid	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	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’-[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
4-N-(4-fluorophenyl)-1-N-[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]piperidine-1,4-dicarboxamide	1624025: Inhibition of human 20S proteasome preincubated for 15 mins followed by substrate addition	ic50	0.0034	uM
1-N-[(2S)-4-(2,2-dimethylpropylamino)-1,4-dioxo-1-[[(2S)-1-oxo-4-phenyl-1-[[(1R)-1,2,3,4-tetrahydronaphthalen-1-yl]amino]butan-2-yl]amino]butan-2-yl]-4-N-methyl-4-N-(1,3-thiazol-2-yl)piperidine-1,4-dicarboxamide	1903224: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-Leu Leu-Val-Tyr-AMC as substrate preincubated for 15 mins followed by substrate addition measured by fluorescence assay	ic50	0.0034	uM
4-methyl-N-[(2R)-1-[[(2R)-4-methyl-1-[(2S)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]-2-[[(2S)-2-[(2-morpholin-4-ylacetyl)amino]-4-phenylbutanoyl]amino]pentanamide	2236585: Activation of 26s proteosome (unknown origin)	ic50	0.0034	uM
1-N-[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]-4-N-pyridin-3-ylpiperidine-1,4-dicarboxamide	1624025: Inhibition of human 20S proteasome preincubated for 15 mins followed by substrate addition	ic50	0.0036	uM
4-N-(1,3-benzothiazol-2-yl)-1-N-[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]piperidine-1,4-dicarboxamide	1624025: Inhibition of human 20S proteasome preincubated for 15 mins followed by substrate addition	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’-[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
[(1R)-1-[[2-[(2,5-dibromobenzoyl)amino]acetyl]amino]-3-methylbutyl]boronic acid	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	ic50	0.0040	uM
1-N-[(2S)-4-(2,2-dimethylpropylamino)-1,4-dioxo-1-[[(2S)-1-oxo-4-phenyl-1-[[(1R)-1,2,3,4-tetrahydronaphthalen-1-yl]amino]butan-2-yl]amino]butan-2-yl]-4-N-pyridin-3-ylpiperidine-1,4-dicarboxamide	1903224: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-Leu Leu-Val-Tyr-AMC as substrate preincubated for 15 mins followed by substrate addition measured by fluorescence assay	ic50	0.0040	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-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[2-[[(2S)-2-acetamido-3-(4-hydroxyphenyl)propanoyl]amino]acetyl]amino]-5-carbamimidamidopentanoyl]amino]-6-aminohexanoyl]amino]-6-aminohexanoyl]amino]-5-carbamimidamidopentanoyl]amino]-5-carbamimidamidopentanoyl]amino]-N-[(2S)-5-carbamimidamido-1-[[(2S)-5-carbamimidamido-1-[[(2S)-5-carbamimidamido-1-[[2-[[2-[[2-[[(2S)-3-(4-hydroxyphenyl)-1-[[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]amino]-1-oxopropan-2-yl]amino]-2-oxoethyl]amino]-2-oxoethyl]amino]-2-oxoethyl]amino]-1-oxopentan-2-yl]amino]-1-oxopentan-2-yl]amino]-1-oxopentan-2-yl]pentanediamide	1559513: Inhibition of human 20S proteasome using Suc-LLVY-AMC as substrate measured every 5 mins for 120 mins by fluorescence based assay	ic50	0.0043	uM
1-N-[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]-4-N-(1,3,4-thiadiazol-2-yl)piperidine-1,4-dicarboxamide	1624025: Inhibition of human 20S proteasome preincubated for 15 mins followed by substrate addition	ic50	0.0046	uM
4-N-(4-chlorophenyl)-1-N-[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]piperidine-1,4-dicarboxamide	1624025: Inhibition of human 20S proteasome preincubated for 15 mins followed by substrate addition	ic50	0.0046	uM
4-N-(4-methoxyphenyl)-1-N-[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]piperidine-1,4-dicarboxamide	1624025: Inhibition of human 20S proteasome preincubated for 15 mins followed by substrate addition	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’-(4-phenylmethoxybutyl)butanediamide	1128229: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-LLVY-AMC as substrate	ic50	0.0048	uM
[(1R)-1-[[2-[[2,5-bis(trifluoromethyl)benzoyl]amino]-3-cyclopropylpropanoyl]amino]-3-methylbutyl]boronic acid	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	ic50	0.0050	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)-N’-(2,2-dimethylpropyl)-2-[[4-[methyl(pyridine-3-carbonyl)amino]piperidine-1-carbonyl]amino]-N-[(2S)-1-oxo-4-phenyl-1-[[(1R)-1,2,3,4-tetrahydronaphthalen-1-yl]amino]butan-2-yl]butanediamide	1903224: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-Leu Leu-Val-Tyr-AMC as substrate preincubated for 15 mins followed by substrate addition measured by fluorescence assay	ic50	0.0052	uM
4-[(1R)-1-[[2-[(2,5-dichlorobenzoyl)amino]acetyl]amino]-3-methylbutyl]-2-methyl-3,5,10-trioxa-4-boratricyclo[5.2.1.02,6]decane-8-carboxylic acid	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	ic50	0.0052	uM
[(1R)-1-[[2-[[2,5-bis(trifluoromethyl)benzoyl]amino]acetyl]amino]-3-methylbutyl]boronic acid	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	ic50	0.0052	uM
[(1R)-1-[[2-[[2,5-bis(trifluoromethyl)benzoyl]amino]-2-cyclopropylacetyl]amino]-3-methylbutyl]boronic acid	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	ic50	0.0056	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
(2R)-2-acetamido-3-[(2R,3S,4R)-2-[(S)-[(1S)-cyclohex-2-en-1-yl]-hydroxymethyl]-4-hexyl-3-hydroxy-3-methyl-5-oxopyrrolidine-2-carbonyl]sulfanylpropanoic acid	277357: Inhibition of human 20S proteasome	ic50	0.0060	uM
[(1R)-1-[[2-[[2,5-bis(trifluoromethyl)benzoyl]amino]-2-cyclopentylacetyl]amino]-3-methylbutyl]boronic acid	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	ic50	0.0060	uM
N-[5-[[amino(nitramido)methylidene]amino]-1-[(4-methyl-1-oxopentan-2-yl)amino]-1-oxopentan-2-yl]-10-cyano-2-cyclopentyldecanamide	3028: Compound was evaluated for inhibitory activity against 20S proteasome from human liver and brain	ic50	0.0060	uM
4-[(1R)-1-[[2-[(2,5-dichlorobenzoyl)amino]acetyl]amino]-3-methylbutyl]-3,5,10-trioxa-4-boratricyclo[5.2.1.02,6]decane-8-carboxylic acid	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	ic50	0.0063	uM
1-N-[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]-4-N-(1,2-oxazol-3-yl)piperidine-1,4-dicarboxamide	1624025: Inhibition of human 20S proteasome preincubated for 15 mins followed by substrate addition	ic50	0.0064	uM
(2S)-2-[[(2S)-2-acetamido-3-(4-hydroxyphenyl)propanoyl]amino]-4-methyl-N-[(2S)-1-[[(2S)-4-methyl-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]pentanamide	1559513: Inhibition of human 20S proteasome using Suc-LLVY-AMC as substrate measured every 5 mins for 120 mins by fluorescence based assay	ic50	0.0064	uM
1-N-[(2S)-4-methyl-1-[[(2S)-1-[[(2S)-4-methyl-1-[(2R)-2-methyloxiran-2-yl]-1-oxopentan-2-yl]amino]-1-oxo-3-phenylpropan-2-yl]amino]-1-oxopentan-2-yl]-4-N-pyrazin-2-ylpiperidine-1,4-dicarboxamide	1624025: Inhibition of human 20S proteasome preincubated for 15 mins followed by substrate addition	ic50	0.0065	uM
Ixazomib	2033891: Inhibition of human 20S proteasome chymotrypsin-like activity using Suc-Leu-Leu-Val-Tyr-AMC as fluorogenic peptide pre-incubated for 10 mins with compound followed by substrate addition for 60 mins by spectrofluorimetric analysis	ic50	0.0065	uM
4-N-(4-chlorophenyl)-1-N-[(2S)-4-(2,2-dimethylpropylamino)-1,4-dioxo-1-[[(2S)-1-oxo-4-phenyl-1-[[(1R)-1,2,3,4-tetrahydronaphthalen-1-yl]amino]butan-2-yl]amino]butan-2-yl]-4-N-methylpiperidine-1,4-dicarboxamide	1903224: Inhibition of chymotrypsin-like activity of human 20S proteasome using Suc-Leu Leu-Val-Tyr-AMC as substrate preincubated for 15 mins followed by substrate addition measured by fluorescence assay	ic50	0.0069	uM
(2S)-N-[(2S,3R,4R)-3-hydroxy-5-[[(2S)-1-[(2-hydroxy-4-methoxyphenyl)methylamino]-3-methyl-1-oxobutan-2-yl]amino]-5-oxo-1-phenyl-4-[(3,4,5-trimethoxyphenyl)methylamino]pentan-2-yl]-3,3-dimethyl-2-[(2-naphthalen-1-ylacetyl)amino]butanamide	3027: Tested in vitro for inhibition of chymotrypsin like activity of purified human 20S proteasome	ic50	0.0070	uM
Carfilzomib	1770085: Inhibition of human 20S proteasome chymotrypsin-like activity in human RPMI-8226 cells using Suc-LLVY-AMC as fluorogenic substrate incubated for 3 hrs by fluorescence assay	ic50	0.0070	uM
(2S)-2-[[(2S)-3-(4-hydroxyphenyl)-2-[(2-naphthalen-1-ylacetyl)amino]propanoyl]amino]-N-[1-(4-hydroxyphenyl)-3-oxopropan-2-yl]-3-methylbutanamide	248827: Inhibitory concentration to inhibit chymotrypsin-like activity of 20S proteasome prepared from human leukemia HL-60 cells was determined	ic50	0.0070	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
arsenite	affects binding, increases reaction, increases methylation	2
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Arsenic Trioxide	increases expression	2
Arsenic	affects cotreatment, increases expression, decreases expression, increases abundance	2
Tobacco Smoke Pollution	affects expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance, affects expression, increases reaction	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	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 cotreatment, decreases expression	1
beta-lapachone	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
cobaltous chloride	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
arsenic trichloride	decreases expression, increases abundance	1
microcystin RR	decreases expression	1
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	increases expression	1
chloropicrin	decreases expression	1
poly(propyleneimine)	decreases expression	1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	affects expression, increases reaction	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
stattic	decreases expression	1
EGFR tyrosine kinase inhibitor 324674	decreases reaction, increases expression	1
bisphenol AF	increases expression	1
Decitabine	decreases expression, affects cotreatment	1
Sunitinib	decreases expression	1

ChEMBL screening assays

171 unique, capped per target: 162 binding, 6 admet, 3 functional

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*
CHEMBL4736581	ADMET	Inhibition of human 20S proteasome stably expressed in HEK293 cells at 5 to 50 uM using succinyl-LLVY-AMC as substrate preincubated for 30 mins followed by substrate addition and measured at 3 mins interval for 30 mins by fluorescence assay	A covalent p97/VCP ATPase inhibitor can overcome resistance to CB-5083 and NMS-873 in colorectal cancer cells. — *Eur J Med Chem*
CHEMBL834792	Functional	Inhibitory concentration to inhibit trypsin-like activity of 20S proteasome from human leukemia HL-60 cells was determined	Structure-based design of derivatives of tyropeptin A as the potent and selective inhibitors of mammalian 20S proteasome. — *Bioorg Med Chem Lett*

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_F6JQ	EDITGENE PSMB4(NC_000001.11:g.151399383G>C) Point Mutation in A-549 Cell Line	Cancer cell line	Male

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 223 trials:

NCT	Phase	Status	Title
NCT05044819	Phase 4	ACTIVE_NOT_RECRUITING	Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution
NCT06598449	Phase 4	RECRUITING	Assessment of Safety of the Use of Fenfluramine in Children With Dravet Syndrome Under 24 Months of Age
NCT06924827	Phase 4	NOT_YET_RECRUITING	A Study to Investigate the Transition of Children From ‘Artisanal Cannabidiol (CBD) to Epidiolex
NCT07112365	Phase 4	RECRUITING	The FINTEPLA as an Anti-SUDEP Therapy in Dravet Syndrome Project
NCT01882400	Phase 4	COMPLETED	Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy
NCT00098475	Phase 3	ACTIVE_NOT_RECRUITING	Lenalidomide and Dexamethasone With or Without Thalidomide in Treating Patients With Multiple Myeloma
NCT00114101	Phase 3	ACTIVE_NOT_RECRUITING	Lenalidomide in Treating Patients With Multiple Myeloma Undergoing Autologous Stem Cell Transplant
NCT00644228	Phase 3	ACTIVE_NOT_RECRUITING	Lenalidomide and Dexamethasone With or Without Bortezomib in Treating Patients With Previously Untreated Multiple Myeloma
NCT00869206	Phase 3	COMPLETED	Zoledronic Acid in Treating Patients With Metastatic Breast Cancer, Metastatic Prostate Cancer, or Multiple Myeloma With Bone Involvement
NCT02091375	Phase 3	COMPLETED	Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1)
NCT02174094	Phase 3	WITHDRAWN	Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome
NCT02187809	Phase 3	TERMINATED	Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome
NCT02224573	Phase 3	COMPLETED	An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Adults With Dravet or Lennox-Gastaut Syndromes
NCT02224703	Phase 3	COMPLETED	GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome
NCT02318563	Phase 3	WITHDRAWN	Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome
NCT02682927	Phase 3	COMPLETED	A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome
NCT02823145	Phase 3	COMPLETED	An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome
NCT02926898	Phase 3	COMPLETED	A 2-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥ 2 Years Old and Young Adults With Dravet Syndrome
NCT03299842	Phase 3	TERMINATED	A Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome
NCT03936777	Phase 3	COMPLETED	A Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut Syndrome
NCT04462770	Phase 3	RECRUITING	A Study of EPX-100 (Clemizole Hydrochloride) in Participants With Dravet Syndrome
NCT04611438	Phase 3	UNKNOWN	Research on Cognitive Effect of Cannabidiol on Dravet Syndrome and Lennox-Gastaut SyndromeGastaut Syndrome
NCT04940624	Phase 3	COMPLETED	A Study of Soticlestat as an Add-on Therapy in Children and Young Adults With Dravet Syndrome
NCT05163314	Phase 3	TERMINATED	A Study of Soticlestat as an Add-on Therapy in Children and Adults With Dravet Syndrome or Lennox-Gastaut Syndrome
NCT05560282	Phase 3	TERMINATED	Fenfluramine for Adult Dravet Patients
NCT06118255	Phase 3	COMPLETED	A Study to Evaluate Safety, Tolerability, and Pharmacokinetics of Fenfluramine (Hydrochloride) in Infants 1 Year to Less Than 2 Years of Age With Dravet Syndrome
NCT06422377	Phase 3	TERMINATED	A Study Evaluating Soticlestat in Participants With Dravet Syndrome or Lennox-Gastaut Syndrome Who Have Been Exposed to Fenfluramine
NCT06660394	Phase 3	ACTIVE_NOT_RECRUITING	A Phase 3, Placebo-Controlled Study to Investigate LP352 in Children and Adults With Dravet Syndrome (DS)
NCT06872125	Phase 3	RECRUITING	A Double-blind Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen in Patients With Dravet Syndrome
NCT01254019	Phase 3	COMPLETED	A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
NCT01480245	Phase 3	TERMINATED	Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
NCT01803412	Phase 3	TERMINATED	A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects
NCT01826487	Phase 3	COMPLETED	Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT01890798	Phase 3	WITHDRAWN	Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol
NCT02090959	Phase 3	TERMINATED	An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02432885	Phase 3	COMPLETED	Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial
NCT03179631	Phase 3	COMPLETED	Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05126758	Phase 3	ACTIVE_NOT_RECRUITING	A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT07587242	Phase 3	RECRUITING	A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping
NCT07608432	Phase 3	RECRUITING	Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO)
NCT00066638	Phase 2	COMPLETED	FR901228 in Treating Patients With Relapsed or Refractory Multiple Myeloma
NCT00088855	Phase 2	COMPLETED	Bortezomib and Pegylated Liposomal Doxorubicin Hydrochloride in Treating Patients With Previously Untreated Symptomatic Multiple Myeloma
NCT00445692	Phase 2	COMPLETED	Lenalidomide, Dexamethasone, and Clarithromycin in Treating Patients Who Have Undergone Stem Cell Transplant for Multiple Myeloma
NCT00839956	Phase 2	COMPLETED	Bortezomib and Vorinostat in Treating Patients With Multiple Myeloma Who Have Undergone Autologous Stem Cell Transplant
NCT01028716	Phase 2	TERMINATED	Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT01251172	Phase 2	WITHDRAWN	RO4929097 After Autologous Stem Cell Transplant in Treating Patients With Multiple Myeloma
NCT01605032	Phase 2	COMPLETED	Busulfan, Melphalan, and Bortezomib Before First-Line Stem Cell Transplant in Treating Patients With Multiple Myeloma
NCT01607073	Phase 2	COMPLETED	Verapamil as Therapy for Children and Young Adults With Dravet Syndrome
NCT02091206	Phase 2	COMPLETED	A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1)
NCT03635073	Phase 2	TERMINATED	A Study of Soticlestat in Adults and Children With Rare Epilepsies
NCT03650452	Phase 2	COMPLETED	A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies
NCT04740476	Phase 2	ACTIVE_NOT_RECRUITING	An Open-Label Extension Study of STK-001 for Patients With Dravet Syndrome
NCT05626634	Phase 2	COMPLETED	Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
NCT06401538	Phase 2	RECRUITING	BMB-101 in Absence Epilepsy and DEE
NCT01153932	Phase 2	COMPLETED	Phase II Doubleblind Exploratory Study of GSK2402968 in Ambulant Subjects With Duchenne Muscular Dystrophy
NCT01462292	Phase 2	COMPLETED	A Clinical Study to Assess Two Doses of GSK2402968 in Subjects With Duchenne Muscular Dystrophy (DMD)
NCT01910649	Phase 2	TERMINATED	A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess Effect, Safety, Tolerability and PK of Multiple SC Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for IV Dosing as an Alternative Route of Administration
NCT03406780	Phase 2	COMPLETED	A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05479981	Phase 2	COMPLETED	Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT06290713	Phase 2	RECRUITING	Vasodilator and Exercise Study for DMD (VASO-REx)

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for PSMB4 across ~30M SureChEMBL compounds — explore on Sugi Predict.