Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5689
Gene name	Proteasome 20S subunit beta 1
Gene symbol	PSMB1
Synonyms (NCBI Gene)	HC5NEDMHALPMSB1PSC5
Chromosome	6
Chromosome location	6q27
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

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049066	hsa-miR-92a-3p	CLASH	23622248
MIRT047743	hsa-miR-10a-5p	CLASH	23622248
MIRT046038	hsa-miR-125b-5p	CLASH	23622248
MIRT1270091	hsa-miR-3973	CLIP-seq
MIRT1270092	hsa-miR-548k	CLIP-seq
MIRT1270093	hsa-miR-582-5p	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IDA	17323924
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	NAS	29636472
GO:0000502	Component	Proteasome complex	TAS	8811196
GO:0005515	Function	Protein binding	IPI	14733938, 16990800, 17948026, 20723761, 25416956, 25599644, 25959826, 28514442, 29568061, 29636472, 31473102, 31515488, 32296183, 32814053, 33961781, 34702852, 35271311, 35858375
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	34711951
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	34711951
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IBA
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	ISS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0051603	Process	Proteolysis involved in protein catabolic process	IBA
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
602017	9537	ENSG00000008018

P20618

Protein name

Proteasome subunit beta type-1 (Macropain subunit C5) (Multicatalytic endopeptidase complex subunit C5) (Proteasome component C5) (Proteasome gamma chain) (Proteasome subunit beta-6) (beta-6)

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 , 5L5B , 5L5D , 5L5E , 5L5F , 5L5H , 5L5I , 5L5J , 5L5O , 5L5P , 5L5Q , 5L5R , 5L5S , 5L5T , 5L5U , 5L5V , 5L5W , 5L5X , 5L5Y , 5L5Z , 5L60 , 5L61 , 5L62 , 5L63 , 5L64 , 5LE5 , 5LEX , 5LEY , 5LEZ , 5LF0 , 5LF1 , 5LF3 , 5LF4 , 5LF6 , 5LF7 , 5LN3 , 5M2B , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFO , 5VFP , 5VFQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00227	Proteasome	34 → 226	Proteasome subunit	Domain

Sequence

MLSSTAMYSAPGRDLGMEPHRAAGPLQLRFSPYVFNGGTILAIAGEDFAIVASDTRLSEG
FSIHTRDSPKCYKLTDKTVIGCSGFHGDCLTLTKIIEARLKMYKHSNNKAMTTGAIAAML
STILYSRRFFPYYVYNIIGGLDEEGKGAVYSFDPVGSYQRDSFKAGGSASAMLQPLLDNQ
VGFKNMQNVEHVPLSLDRAMRLVKDVFISAAERDVYTGDALRICIVTKEGIREETVSLRK
D

Sequence length

241

Interactions

View interactions

	KEGG		Reactome
	Proteasome Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases		Activation of NF-kappaB in B cells Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Cross-presentation of soluble exogenous antigens (endosomes) Autodegradation of Cdh1 by Cdh1:APC/C SCF-beta-TrCP mediated degradation of Emi1 APC/C:Cdc20 mediated degradation of Securin APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Cdc20:Phospho-APC/C mediated degradation of Cyclin A Vpu mediated degradation of CD4 Vif-mediated degradation of APOBEC3G SCF(Skp2)-mediated degradation of p27/p21 Degradation of beta-catenin by the destruction complex Downstream TCR signaling Separation of Sister Chromatids FCERI mediated NF-kB activation Autodegradation of the E3 ubiquitin ligase COP1 Regulation of ornithine decarboxylase (ODC) ABC-family proteins mediated transport AUF1 (hnRNP D0) binds and destabilizes mRNA Asymmetric localization of PCP proteins Degradation of AXIN Degradation of DVL Hedgehog ligand biogenesis Hh mutants that don't undergo autocatalytic processing are degraded by ERAD Dectin-1 mediated noncanonical NF-kB signaling CLEC7A (Dectin-1) signaling Degradation of GLI1 by the proteasome GLI3 is processed to GLI3R by the proteasome Hedgehog 'on' state Regulation of RAS by GAPs TNFR2 non-canonical NF-kB pathway NIK-->noncanonical NF-kB signaling Defective CFTR causes cystic fibrosis MAPK6/MAPK4 signaling UCH proteinases Ub-specific processing proteases Neutrophil degranulation CDT1 association with the CDC6:ORC:origin complex Orc1 removal from chromatin CDK-mediated phosphorylation and removal of Cdc6 G2/M Checkpoints Ubiquitin Mediated Degradation of Phosphorylated Cdc25A Ubiquitin-dependent degradation of Cyclin D The role of GTSE1 in G2/M progression after G2 checkpoint FBXL7 down-regulates AURKA during mitotic entry and in early mitosis RUNX1 regulates transcription of genes involved in differentiation of HSCs Regulation of RUNX2 expression and activity Regulation of RUNX3 expression and activity Regulation of PTEN stability and activity Neddylation Interleukin-1 signaling Antigen processing: Ubiquitination & Proteasome degradation

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Pathogenic	rs2533951873	RCV002284163	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Rheumatoid	Associate	39342401	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	37864031	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	35693739	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	38159835	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Associate	19274467	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	39342401	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	39684695	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	30954557	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	35693739, 38157275, 39684695	★★★★★ ★☆☆☆☆ Found in Text Mining only

PSMB1 (proteasome 20S subunit beta 1)