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

Gene Gene information from NCBI Gene database. Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (3)

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

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		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 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 (2)

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)

Show/Hide Unknown Diseases (6)

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.
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIV INFECTIONS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMENN SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSMB10-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Inhibit	14997933	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Stimulate	21252911	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Associate	27157464	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Associate	39342401	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Associate	16414974	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	29685151	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Associate	28465297	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	21256843	★★★★★ ★☆☆☆☆ Found in Text Mining only
chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature	Associate	37600812	★★★★★ ★☆☆☆☆ Found in Text Mining only
Death	Associate	38503300	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Associate	37581620	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	39342401	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	16101128	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Associate	22710419	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Associate	39249578	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26474455	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	24056819	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Associate	39249578	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Associate	39249578	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Associate	1426288	★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Associate	20008301	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Associate	25098831	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	12836015, 18181098, 36700205	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	15265880	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	16101128	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non Muscle Invasive Bladder Neoplasms	Stimulate	40012053	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24056819	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Associate	32331228	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Associate	38503300	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urethral Neoplasms	Associate	19756593	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	29745858	★★★★★ ★☆☆☆☆ Found in Text Mining only

PSMB10 (proteasome 20S subunit beta 10)