PSMB10 (proteasome 20S subunit beta 10)

Gene

• Entrez ID: 5699
• Gene name: Proteasome 20S subunit beta 10
• Gene symbol: PSMB10
• Synonyms (NCBI Gene): IMD121, LMP10, MECL1, PRAAS5, beta2i
• 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 factors

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

Gene ontology (GO)

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

Other IDs

• MIM: 176847
• HGNC: 9538
• e!Ensembl: ENSG00000205220

Protein

• UniProt ID: 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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ 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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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
Cervix carcinoma	Cervix carcinoma	BEFREE	29745858		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12519221		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17124531		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37581620	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39342401	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16101128	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive Retinopathy	Hypertensive Retinopathy	BEFREE	29499566		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	15198127		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22710419	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	39249578	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24056819	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	39249578	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	39249578	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	1426288	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22134332		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29745858		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20008301		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	25098831	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29499566		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	38503300	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29745858	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	14551602		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	14551602		★☆☆☆☆ Found in Text Mining only