PSMB4 (proteasome 20S subunit beta 4)

Gene

• Entrez ID: 5692
• Gene name: Proteasome 20S subunit beta 4
• Gene symbol: PSMB4
• Synonyms (NCBI Gene): HN3, HsN3, PRAAS3, PROS-26, PROS26
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200946642	G>A,T	Pathogenic	5 prime UTR variant
rs1235715459	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1553209362	CTTAGTAGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1553209373	C>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050351	hsa-miR-25-3p	CLASH	23622248
MIRT1270234	hsa-miR-1261	CLIP-seq
MIRT1270235	hsa-miR-1299	CLIP-seq
MIRT1270236	hsa-miR-3545-3p	CLIP-seq
MIRT1270237	hsa-miR-3973	CLIP-seq
MIRT1270238	hsa-miR-4277	CLIP-seq
MIRT1270239	hsa-miR-4436b-3p	CLIP-seq
MIRT1270240	hsa-miR-4480	CLIP-seq
MIRT1270241	hsa-miR-4662a-5p	CLIP-seq
MIRT1270242	hsa-miR-4699-3p	CLIP-seq
MIRT1270243	hsa-miR-4742-3p	CLIP-seq
MIRT1270244	hsa-miR-4761-3p	CLIP-seq
MIRT1270245	hsa-miR-4782-5p	CLIP-seq
MIRT1270246	hsa-miR-516b	CLIP-seq
MIRT1270247	hsa-miR-520d-5p	CLIP-seq
MIRT1270248	hsa-miR-520g	CLIP-seq
MIRT1270249	hsa-miR-520h	CLIP-seq
MIRT1270250	hsa-miR-524-5p	CLIP-seq
MIRT1270251	hsa-miR-548n	CLIP-seq
MIRT1270252	hsa-miR-548t	CLIP-seq
MIRT1270253	hsa-miR-891b	CLIP-seq
MIRT1270234	hsa-miR-1261	CLIP-seq
MIRT1270235	hsa-miR-1299	CLIP-seq
MIRT1270238	hsa-miR-4277	CLIP-seq
MIRT1270239	hsa-miR-4436b-3p	CLIP-seq
MIRT1270243	hsa-miR-4742-3p	CLIP-seq
MIRT1270244	hsa-miR-4761-3p	CLIP-seq
MIRT1270245	hsa-miR-4782-5p	CLIP-seq
MIRT1270246	hsa-miR-516b	CLIP-seq
MIRT1270253	hsa-miR-891b	CLIP-seq
MIRT1270234	hsa-miR-1261	CLIP-seq
MIRT1270235	hsa-miR-1299	CLIP-seq
MIRT1270238	hsa-miR-4277	CLIP-seq
MIRT1270239	hsa-miR-4436b-3p	CLIP-seq
MIRT1270243	hsa-miR-4742-3p	CLIP-seq
MIRT1270244	hsa-miR-4761-3p	CLIP-seq
MIRT1270245	hsa-miR-4782-5p	CLIP-seq
MIRT1270246	hsa-miR-516b	CLIP-seq
MIRT1270251	hsa-miR-548n	CLIP-seq
MIRT1270253	hsa-miR-891b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IDA	17323924, 26524591
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	NAS	29636472
GO:0000502	Component	Proteasome complex	TAS	8811196
GO:0001530	Function	Lipopolysaccharide binding	IEA
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	IEA
GO:0005515	Function	Protein binding	IPI	15231748, 17189198, 17948026, 25416956, 28514442, 31473102, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	34711951
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	16130169
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	34711951
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IDA	34711951
GO:0005839	Component	Proteasome core complex	IEA
GO:0005839	Component	Proteasome core complex	ISS
GO:0019774	Component	Proteasome core complex, beta-subunit complex	IBA
GO:0019774	Component	Proteasome core complex, beta-subunit complex	ISS
GO:0036064	Component	Ciliary basal body	IDA	29257953
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	26524591
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337

Other IDs

• MIM: 602177
• HGNC: 9541
• e!Ensembl: ENSG00000159377

Protein

• UniProt ID: P28070
• Protein name: Proteasome subunit beta type-4 (26 kDa prosomal protein) (HsBPROS26) (PROS-26) (Macropain beta chain) (Multicatalytic endopeptidase complex beta chain) (Proteasome beta chain) (Proteasome chain 3) (HsN3) (Proteasome subunit beta-7) (beta-7)
• Protein 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. As
• PDB: 4R3O, 4R67, 5A0Q, 5GJQ, 5GJR, 5L4G, 5LE5, 5LEX, 5LEY, 5LEZ, 5LF0, 5LF1, 5LF3, 5LF4, 5LF6, 5LF7, 5LN3, 5M32, 5T0C, 5T0G, 5T0H, 5T0I, 5T0J, 5VFO, 5VFP, 5VFQ, 5VFR, 5VFS, 5VFT, 5VFU, 6AVO, 6E5B, 6KWY, 6MSB, 6MSD, 6MSE, 6MSG, 6MSH, 6MSJ, 6MSK, 6R70, 6REY, 6RGQ, 6WJD, 6WJN, 6XMJ, 7AWE, 7B12, 7LXV, 7NAN, 7NAO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00227	Proteasome	50 → 237	Proteasome subunit	Domain

• Sequence:

  MEAFLGSRSGLWAGGPAPGQFYRIPSTPDSFMDPASALYRGPITRTQNPMVTGTSVLGVK
  FEGGVVIAADMLGSYGSLARFRNISRIMRVNNSTMLGASGDYADFQYLKQVLGQMVIDEE
  LLGDGHSYSPRAIHSWLTRAMYSRRSKMNPLWNTMVIGGYADGESFLGYVDMLGVAYEAP
  SLATGYGAYLAQPLLREVLEKQPVLSQTEARDLVERCMRVLYYRDARSYNRFQIATVTEK
  GVEIEGPLSTETNWDIAHMISGFE

• Sequence length: 264

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Proteasome-associated autoinflammatory syndrome 1	Pathogenic	rs1553209373	RCV000663378	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteasome-associated autoinflammatory syndrome 3	Pathogenic	rs1553209362	RCV000663375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CANDLE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSMB4-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39342401	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30066880		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36062301	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35693739	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26439929		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31699366		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31699366		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37218575	Associate	★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39342401	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26439929		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29414809		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29414809		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19783622, 29414809		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19783622	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	34416217	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	18504423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18504423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	30066880		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26439929		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24755469, 30066880		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31699366		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25656574		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24755469, 29414809, 30066880		★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	18504423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations