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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5696
Gene name	Proteasome 20S subunit beta 8
Gene symbol	PSMB8
Synonyms (NCBI Gene)	ALDDD6S216D6S216EJMPLMP7NKJOPRAAS1PSMB5iRING10
Chromosome	6
Chromosome location	6p21.32
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 (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906680	C>A,T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029309	hsa-miR-26b-5p	Microarray	19088304
MIRT733492	hsa-miR-451a	qRT-PCRWestern blotting	34112884
MIRT733492	hsa-miR-451a	qRT-PCR	32478410

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IDA	26524591
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	TAS	8666937
GO:0002376	Process	Immune system process	IEA
GO:0004175	Function	Endopeptidase activity	IBA
GO:0004298	Function	Threonine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	15303969, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IEA
GO:0005839	Component	Proteasome core complex	ISS
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019774	Component	Proteasome core complex, beta-subunit complex	IBA
GO:0019774	Component	Proteasome core complex, beta-subunit complex	ISS
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	26524591
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	IMP	21881205
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1990111	Component	Spermatoproteasome complex	IEA
GO:1990111	Component	Spermatoproteasome complex	ISS

MIM	HGNC	e!Ensembl
177046	9545	ENSG00000204264

P28062

Protein name

Proteasome subunit beta type-8 (EC 3.4.25.1) (Low molecular mass protein 7) (Macropain subunit C13) (Multicatalytic endopeptidase complex subunit C13) (Proteasome component C13) (Proteasome subunit beta-5i) (Really interesting new gene 10 protein)

Protein function

The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent pr

PDB

5L5A , 5L5B , 5L5D , 5L5E , 5L5F , 5L5H , 5L5I , 5L5J , 5L5O , 5L5P , 5L5Q , 5L5R , 5L5S , 5L5T , 5L5U , 5L5V , 5LTT , 5M2B , 6AVO , 6E5B , 7AWE , 7B12

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00227	Proteasome	69 → 251	Proteasome subunit	Domain

Sequence

MALLDVCGAPRGQRPESALPVAGSGRRSDPGHYSFSMRSPELALPRGMQPTEFFQSLGGD
GERNVQIEMAHGTTTLAFKFQHGVIAAVDSRASAGSYISALRVNKVIEINPYLLGTMSGC
AADCQYWERLLAKECRLYYLRNGERISVSAASKLLSNMMCQYRGMGLSMGSMICGWDKKG
PGLYYVDEHGTRLSGNMFSTGSGNTYAYGVMDSGYRPNLSPEEAYDLGRRAIAYATHRDS
YSGGVVNMYHMKEDGWVKVESTDVSDLLHQYREANQ

Sequence length

276

Interactions

View interactions

	KEGG		Reactome
	Proteasome		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 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 Interferon alpha/beta signaling Antigen processing: Ubiquitination & Proteasome degradation

285

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs2127377117	RCV002264415
Proteasome-associated autoinflammatory syndrome 1	Likely pathogenic; Pathogenic	rs763314828, rs895985294, rs1359687163, rs387906680, rs146254972, rs1554239543, rs748082671, rs374929612	RCV003989259 RCV004515817 RCV004515818 RCV000022739 RCV000022741 RCV000663374 RCV000816894 RCV001224235
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC	Pathogenic	rs748082671	RCV000663373
Proteosome-associated autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs2127377117, rs2483095040, rs1582609458, rs2483096056, rs2483087076, rs1312431639, rs146254972, rs748082671, rs1769913209	RCV003762021 RCV003764014 RCV003597148 RCV003762500 RCV003762683 RCV003763371 RCV003595858 RCV003596608 RCV003763832
PSMB8-related disorder	Pathogenic	rs748082671	RCV003411802

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs78909544	RCV005900206
Clear cell carcinoma of kidney	Benign; Likely benign	rs78909544	RCV005900208
Familial cancer of breast	Benign; Likely benign	rs78909544	RCV005900205
Gastric cancer	Uncertain significance	rs764187500	RCV005930122
Hepatocellular carcinoma	Benign	rs9276810	RCV005899068
Malignant tumor of esophagus	Benign; Likely benign	rs78909544	RCV005900207
Ovarian serous cystadenocarcinoma	-	rs2071543	RCV005988520
PSMB8-related dominant condition	Uncertain significance	rs2127378531	RCV006258653
See cases	Conflicting classifications of pathogenicity	rs775701157	RCV002252654
Thyroid cancer, nonmedullary, 1	-	rs2071543	RCV005988521
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs78909544	RCV005900210
Uveal melanoma	Benign; Likely benign	rs78909544	RCV005900209

Show/Hide Text Mining Associations (78)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Inhibit	14997933
Achalasia Addisonianism Alacrimia syndrome	Associate	36746983
Aicardi Goutieres syndrome	Associate	31874111
Alveolitis Extrinsic Allergic	Associate	20153157
Anemia hypochromic microcytic	Associate	21129723, 21953331
Arthritis Rheumatoid	Associate	39342401
Asthma	Associate	35524249
Autoimmune Diseases	Associate	28700671
Autoimmune Diseases of the Nervous System	Associate	16414974
Breast Neoplasms	Associate	29510614, 36746983, 36766731
Burkitt Lymphoma	Associate	28465297
Carcinogenesis	Associate	25556465
Carcinoma Hepatocellular	Associate	36062301
Carcinoma Squamous Cell	Associate	23024775
Cholesteatoma	Associate	37762439
chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature	Associate	21953331, 26524591, 35660921, 37600812
Contracture	Associate	21129723, 21953331
Corneal Neovascularization	Associate	36579659
COVID 19	Associate	34225749
Depressive Disorder Major	Associate	31305436
Dermatitis Atopic	Associate	39273140
Diabetes Mellitus	Associate	34669152
Diabetes Mellitus Type 1	Associate	7847389
Diabetes Mellitus Type 2	Associate	39342401
Disease	Associate	38132120
Endometrial Neoplasms	Associate	27213585
Esophageal Neoplasms	Associate	25556465
Esophageal Squamous Cell Carcinoma	Associate	25556465, 29073155
Fibrosis	Associate	33922041
Gastrointestinal Neoplasms	Associate	29451304
Glioblastoma	Associate	16101128, 26313662, 30356407
Glioma	Associate	31812014
Glomerulonephritis IGA	Associate	28929317
Glomerulonephritis Membranous	Associate	28929317
Hereditary Autoinflammatory Diseases	Associate	21852578, 29731430, 31286971, 33042144
Hyperoxia	Stimulate	29155844
Hypopharyngeal Neoplasms	Associate	32680979
Hypoxia	Inhibit	29155844
Immune System Diseases	Associate	26524591
Inflammation	Associate	36361735
Inflammatory Bowel Diseases	Associate	22710419
Influenza Human	Associate	33138079
Leukemia	Associate	19671918
Leukemia Myeloid Acute	Associate	36737692
Lewy Body Disease	Stimulate	29775672
Lipodystrophy	Associate	21953331
Lupus Nephritis	Stimulate	25889472
Lupus Nephritis	Associate	31638917
Lymphatic Metastasis	Stimulate	26894977, 29510614
Lymphoma Non Hodgkin	Inhibit	19671918
Melanoma	Associate	10079252, 32060274
Melioidosis	Associate	28628607
Multiple Myeloma	Associate	19671918
Muscular Atrophy	Associate	21129723, 21953331
Muscular Dystrophy Duchenne	Associate	36619896
Myositis	Associate	25098831
Neoplasm Metastasis	Associate	28639897
Neoplasms	Associate	12836015, 18181098, 25556465, 26399368, 32423906, 34650125, 36700205, 36746983
Neoplasms	Inhibit	15265880, 16855371
Neoplasms	Stimulate	29510614
Non Muscle Invasive Bladder Neoplasms	Stimulate	40012053
Ovarian Neoplasms	Associate	36739404
Panniculitis	Associate	21129723, 21953331
Primary Myelofibrosis	Associate	32331228
Prostatic Neoplasms	Associate	19820934
Proteinuria	Associate	19037255
Psoriasis	Associate	39273140
Scleroderma Systemic	Associate	33922041
Sepsis	Associate	28628607
Sjogren's Syndrome	Associate	16646031, 27332624
Stomach Neoplasms	Inhibit	16541432
Stomach Neoplasms	Associate	26894977, 31949544
Triple Negative Breast Neoplasms	Associate	32423906, 36746983
Urethral Neoplasms	Associate	19756593
Urinary Bladder Neoplasms	Associate	33289830
Uterine Cervical Dysplasia	Associate	23024775
Uterine Cervical Neoplasms	Associate	17622526, 23024775, 28639897
Vitiligo	Associate	28129744, 28700671

PSMB8 (proteasome 20S subunit beta 8)