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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Proteasome-associated autoinflammatory syndrome 1	Pathogenic	rs1553209373	RCV000663378
Proteasome-associated autoinflammatory syndrome 3	Pathogenic	rs1553209362	RCV000663375

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Familial cancer of breast	Likely benign	rs6684391	RCV005925647
PSMB4-related disorder	Benign; Uncertain significance; Likely benign	rs188568243, rs7172, rs4603, rs772971488, rs116353887, rs200946642	RCV003931063 RCV003983930 RCV003983933 RCV003968678 RCV003926295 RCV003980291

Associations from Text Mining
Disease Name	Relationship Type	References
Arthritis Rheumatoid	Associate	39342401
Carcinoma Hepatocellular	Associate	36062301
Carcinoma Renal Cell	Stimulate	35693739
Colorectal Neoplasms	Associate	37218575
Diabetes Mellitus Type 2	Associate	39342401
general anxiety disorder	Associate	36344488
Glioma	Associate	19783622
Lipodystrophy	Associate	34416217
Meningomyelocele	Associate	39774454
Muscle Neoplasms	Associate	25532418
Obsessive Compulsive Disorder	Associate	36344488