Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	5699
Gene name	Proteasome 20S subunit beta 10
Gene symbol	PSMB10
Synonyms (NCBI Gene)	IMD121LMP10MECL1PRAAS5beta2i
Chromosome	16
Chromosome location	16q22.1
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

Transcription factor	Regulation	Reference
IRF1	Unknown	18694960
NFKB1	Unknown	18694960
RELA	Unknown	18694960

24 Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	TAS	9551082
GO:0000902	Process	Cell morphogenesis	IEA
GO:0004175	Function	Endopeptidase activity	IBA
GO:0004298	Function	Threonine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	14733938, 21516116, 25416956, 28514442, 31515488, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
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:0006959	Process	Humoral immune response	TAS	8666937
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:0042098	Process	T cell proliferation	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:1990111	Component	Spermatoproteasome complex	IEA
GO:1990111	Component	Spermatoproteasome complex	ISS

MIM	HGNC	e!Ensembl
176847	9538	ENSG00000205220

P40306

Protein name

Proteasome subunit beta type-10 (EC 3.4.25.1) (Low molecular mass protein 10) (Macropain subunit MECl-1) (Multicatalytic endopeptidase complex subunit MECl-1) (Proteasome MECl-1) (Proteasome subunit beta-2i)

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

6AVO , 6E5B , 6HV3 , 6HV4 , 6HV5 , 6HV7 , 6HVA , 6HVR , 6HVS , 6HVT , 6HVU , 6HVV , 6HVW , 7AWE , 7B12 , 9FSV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00227	Proteasome	36 → 217	Proteasome subunit	Domain
PF12465	Pr_beta_C	231 → 267	Proteasome beta subunits C terminal	Family

Sequence

MLKPALEPRGGFSFENCQRNASLERVLPGLKVPHARKTGTTIAGLVFQDGVILGADTRAT
NDSVVADKSCEKIHFIAPKIYCCGAGVAADAEMTTRMVASKMELHALSTGREPRVATVTR
ILRQTLFRYQGHVGASLIVGGVDLTGPQLYGVHPHGSYSRLPFTALGSGQDAALAVLEDR
FQPNMTLEAAQGLLVEAVTAGILGDLGSGGNVDACVITKTGAKLLRTLSSPTEPVKRSGR
YHFVPGTTAVLTQTVKPLTLELVEETVQAMEVE

Sequence length

273

Interactions

View interactions

KEGG Pathway	Reactome Pathway
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
	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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 121 with autoinflammation	Pathogenic	rs1333515119, rs2544399189	RCV004577063 RCV004577064 RCV004577065	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteasome-associated autoinflammatory syndrome 5	Pathogenic	rs2058265845, rs763700481, rs753711137, rs2544397166, rs2058265858	RCV004577059 RCV004577060 RCV004577061 RCV004577062 RCV001291934	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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.
CROHN'S DISEASE	—	GWAS catalog	22412388	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	22412388	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMENN SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	38503300	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSMB10-related disorder	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (33)
Alzheimer Disease	Alzheimer disease	Pubtator	21252911	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	27157464	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39342401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29507100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16414974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	16414974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29685151	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	28465297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21256843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29745858		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PSMB8	1	["Proteasome associated autoinflammatory syndrome"]	51	["Proteasome","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21","Orc1 removal from chromatin","CDK-mediated phosphorylation and removal of Cdc6","Ubiquitin-dependent degradation of Cyclin D","Activation of NF-kappaB in B cells"]	4	["ClinVar (Proteasome associated autoinflammatory syndrome)","GWAS catalog (Proteasome associated autoinflammatory syndrome)","HPO (Proteasome associated autoinflammatory syndrome)","Disgenet (Proteasome associated autoinflammatory syndrome)"]
PSMB4	1	["Proteasome associated autoinflammatory syndrome"]	51	["Proteasome","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21","Orc1 removal from chromatin","CDK-mediated phosphorylation and removal of Cdc6","Ubiquitin-dependent degradation of Cyclin D","Activation of NF-kappaB in B cells"]	3	["ClinVar (Proteasome associated autoinflammatory syndrome)","HPO (Proteasome associated autoinflammatory syndrome)","Disgenet (Proteasome associated autoinflammatory syndrome)"]
PSMB9	1	["Proteasome associated autoinflammatory syndrome"]	51	["Proteasome","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21","Orc1 removal from chromatin","CDK-mediated phosphorylation and removal of Cdc6","Ubiquitin-dependent degradation of Cyclin D","Activation of NF-kappaB in B cells"]	3	["ClinVar (Proteasome associated autoinflammatory syndrome)","HPO (Proteasome associated autoinflammatory syndrome)","Disgenet (Proteasome associated autoinflammatory syndrome)"]
PSMF1	0	[]	51	["Proteasome","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21","Orc1 removal from chromatin","CDK-mediated phosphorylation and removal of Cdc6","Ubiquitin-dependent degradation of Cyclin D","Activation of NF-kappaB in B cells"]	0	[]
PSME1	0	[]	51	["Proteasome","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21","Orc1 removal from chromatin","CDK-mediated phosphorylation and removal of Cdc6","Ubiquitin-dependent degradation of Cyclin D","Activation of NF-kappaB in B cells"]	0	[]

PSMB10 (proteasome 20S subunit beta 10)

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