PSMB9 (proteasome 20S subunit beta 9)

Gene

• Entrez ID: 5698
• Gene name: Proteasome 20S subunit beta 9
• Gene symbol: PSMB9
• Synonyms (NCBI Gene): LMP2, PRAAS3, PRAAS6, PSMB6i, RING12, beta1i
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369359789	G>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT683914	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT683913	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT683912	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT683911	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT683910	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT683909	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT683908	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT683907	hsa-miR-1304-3p	HITS-CLIP	23313552
MIRT683906	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT683905	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT683904	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT683903	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT683902	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT683901	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT683900	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT683899	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT683898	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT683897	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT683896	hsa-miR-6836-3p	HITS-CLIP	23313552
MIRT683895	hsa-miR-498	HITS-CLIP	23313552
MIRT508793	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT508792	hsa-miR-6798-5p	PAR-CLIP	23446348
MIRT508791	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT508789	hsa-miR-1257	PAR-CLIP	23446348
MIRT508793	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT508792	hsa-miR-6798-5p	PAR-CLIP	23446348
MIRT508791	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT508789	hsa-miR-1257	PAR-CLIP	23446348
MIRT508790	hsa-miR-29b-2-5p	PAR-CLIP	23446348
MIRT508788	hsa-miR-659-3p	PAR-CLIP	23446348
MIRT508787	hsa-miR-129-5p	PAR-CLIP	23446348
MIRT683914	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT683913	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT683912	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT683911	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT683910	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT683909	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT683908	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT683907	hsa-miR-1304-3p	HITS-CLIP	23313552
MIRT683906	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT683905	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT683904	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT683903	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT683902	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT683901	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT683900	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT683899	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT683898	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT683897	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT683896	hsa-miR-6836-3p	HITS-CLIP	23313552
MIRT683895	hsa-miR-498	HITS-CLIP	23313552
MIRT508793	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT508792	hsa-miR-6798-5p	PAR-CLIP	23446348
MIRT508791	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT508789	hsa-miR-1257	PAR-CLIP	23446348
MIRT508793	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT508792	hsa-miR-6798-5p	PAR-CLIP	23446348
MIRT508791	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT508789	hsa-miR-1257	PAR-CLIP	23446348
MIRT508790	hsa-miR-29b-2-5p	PAR-CLIP	23446348
MIRT508788	hsa-miR-659-3p	PAR-CLIP	23446348
MIRT508787	hsa-miR-129-5p	PAR-CLIP	23446348
MIRT2602938	hsa-miR-1224-3p	CLIP-seq
MIRT2602939	hsa-miR-125a-5p	CLIP-seq
MIRT2602940	hsa-miR-125b	CLIP-seq
MIRT2602941	hsa-miR-1291	CLIP-seq
MIRT2602942	hsa-miR-328	CLIP-seq
MIRT2602943	hsa-miR-3663-3p	CLIP-seq
MIRT2602944	hsa-miR-3913-3p	CLIP-seq
MIRT2602945	hsa-miR-4266	CLIP-seq
MIRT2602946	hsa-miR-4287	CLIP-seq
MIRT2602947	hsa-miR-4319	CLIP-seq
MIRT2602948	hsa-miR-4469	CLIP-seq
MIRT2602949	hsa-miR-4685-3p	CLIP-seq
MIRT2602950	hsa-miR-4695-5p	CLIP-seq
MIRT2602951	hsa-miR-4732-3p	CLIP-seq
MIRT2602952	hsa-miR-4779	CLIP-seq
MIRT2602953	hsa-miR-489	CLIP-seq
MIRT2602954	hsa-miR-591	CLIP-seq
MIRT2602955	hsa-miR-670	CLIP-seq
MIRT2602938	hsa-miR-1224-3p	CLIP-seq
MIRT2602939	hsa-miR-125a-5p	CLIP-seq
MIRT2602940	hsa-miR-125b	CLIP-seq
MIRT2602941	hsa-miR-1291	CLIP-seq
MIRT2602942	hsa-miR-328	CLIP-seq
MIRT2602943	hsa-miR-3663-3p	CLIP-seq
MIRT2602944	hsa-miR-3913-3p	CLIP-seq
MIRT2602945	hsa-miR-4266	CLIP-seq
MIRT2602946	hsa-miR-4287	CLIP-seq
MIRT2602947	hsa-miR-4319	CLIP-seq
MIRT2602948	hsa-miR-4469	CLIP-seq
MIRT2602949	hsa-miR-4685-3p	CLIP-seq
MIRT2602950	hsa-miR-4695-5p	CLIP-seq
MIRT2602951	hsa-miR-4732-3p	CLIP-seq
MIRT2602952	hsa-miR-4779	CLIP-seq
MIRT2602953	hsa-miR-489	CLIP-seq
MIRT2688856	hsa-miR-520d-5p	CLIP-seq
MIRT2688857	hsa-miR-524-5p	CLIP-seq
MIRT2688858	hsa-miR-556-3p	CLIP-seq
MIRT2602954	hsa-miR-591	CLIP-seq
MIRT2602955	hsa-miR-670	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF1	Activation	18694960
IRF1	Unknown	10764778;10921891;16703666;9632673
NFKB1	Unknown	18694960
RELA	Unknown	18694960
SEC14L2	Unknown	7699330
STAT1	Unknown	10764778;10921891;16703666;9632673

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
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	14733938, 16957778, 18985028, 20723761, 28514442, 30833792, 32296183, 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	IDA
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:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	26524591
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1990111	Component	Spermatoproteasome complex	ISS

Other IDs

• MIM: 177045
• HGNC: 9546
• e!Ensembl: ENSG00000240065

Protein

• UniProt ID: P28065
• Protein name: Proteasome subunit beta type-9 (EC 3.4.25.1) (Low molecular mass protein 2) (Macropain chain 7) (Multicatalytic endopeptidase complex chain 7) (Proteasome chain 7) (Proteasome subunit beta-1i) (Really interesting new gene 12 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 (PubMed:33727065, PubMed:34819510). The
• PDB: 6AVO, 6E5B, 7AWE, 7B12, 9FST
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00227	Proteasome	17 → 198	Proteasome subunit	Domain

• Sequence:

  MLRAGAPTGDLPRAGEVHTGTTIMAVEFDGGVVMGSDSRVSAGEAVVNRVFDKLSPLHER
  IYCALSGSAADAQAVADMAAYQLELHGIELEEPPLVLAAANVVRNISYKYREDLSAHLMV
  AGWDQREGGQVYGTLGGMLTRQPFAIGGSGSTFIYGYVDAAYKPGMSPEECRRFTTDAIA
  LAMSRDGSSGGVIYLVTITAAGVDHRVILGNELPKFYDE

• Sequence length: 219

Pathways

KEGG:

Proteasome

Reactome:

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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Proteasome-associated autoinflammatory syndrome 6	Pathogenic	rs2127399518	RCV004556086
proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID)	Pathogenic	rs2127399518	RCV001732235

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Likely benign	rs17213861	RCV005931725
Cervical cancer	Likely benign	rs17213861	RCV005931728
Cholangiocarcinoma	Likely benign	rs17213861	RCV005931739
Clear cell carcinoma of kidney	Likely benign	rs17213861	RCV005931730
Colon adenocarcinoma	Likely benign	rs17213861	RCV005931724
Colorectal cancer	Likely benign	rs17213861	RCV005931733
Familial pancreatic carcinoma	Likely benign	rs17213861	RCV005931732
Gastric cancer	Likely benign	rs17213861	RCV005931735
Hepatocellular carcinoma	Likely benign	rs17213861	RCV005931726
Lung cancer	Likely benign	rs17213861	RCV005931740
Lymphoma	Likely benign	rs17213861	RCV005931736
Malignant tumor of esophagus	Likely benign	rs17213861	RCV005931727
Melanoma	Likely benign	rs17213861	RCV005931738
Ovarian serous cystadenocarcinoma	Likely benign	rs17213861	RCV005931737
Proteasome-associated autoinflammatory syndrome 3	Benign; Conflicting classifications of pathogenicity	rs17587, rs369359789	RCV001789603 RCV000663433
PSMB9-related disorder	Benign; Likely benign	rs17587, rs17213861, rs20547, rs773900710, rs241419, rs761162782, rs182700479, rs35100697	RCV003976183 RCV003916445 RCV003973801 RCV003916825 RCV003973917 RCV003944142 RCV003924753 RCV003939397
Sarcoma	Likely benign	rs17213861	RCV005931734
Uterine corpus endometrial carcinoma	Likely benign	rs17213861	RCV005931741
Uveal melanoma	Likely benign	rs17213861	RCV005931731

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Inhibit	14997933
Achalasia Addisonianism Alacrimia syndrome	Associate	36746983
Alveolitis Extrinsic Allergic	Associate	20153157
Arthritis	Associate	7763114
Arthritis Rheumatoid	Associate	32998980, 39342401
Asthma	Associate	32867763
Autoimmune Diseases	Associate	24040045
Axial osteomalacia	Associate	7763114
Breast Neoplasms	Stimulate	35037412
Breast Neoplasms	Associate	36746983, 36766731
Burkitt Lymphoma	Associate	25463610, 28465297, 35408790
Carcinogenesis	Associate	27993616
Carcinogenesis	Inhibit	37986152
Carcinoma Ductal	Associate	30909665
Carcinoma Pancreatic Ductal	Associate	34957503
Carcinoma Renal Cell	Associate	22705098
Carcinoma Squamous Cell	Inhibit	23024775
Cardiomyopathy infantile histiocytoid	Associate	22705098
Celiac Disease	Associate	28934294
Cholesteatoma	Associate	37762439
Colorectal Neoplasms	Associate	24040045, 34162701
Depressive Disorder Major	Associate	31305436
Dermatitis	Associate	27258892
Dermatomyositis	Associate	39447013
Diabetes Mellitus Type 1	Associate	7847389
Diabetes Mellitus Type 2	Stimulate	36527108
Diabetes Mellitus Type 2	Inhibit	39342401
Drug Related Side Effects and Adverse Reactions	Associate	32808978
Epstein Barr Virus Infections	Associate	10458773, 16148164, 24714353, 9746788
Erectile Dysfunction	Associate	25343742
Esophageal Squamous Cell Carcinoma	Associate	29073155
Focal cortical dysplasia of Taylor	Stimulate	27566410
Gastrointestinal Neoplasms	Associate	16855371
GATA2 Deficiency	Associate	20671118
Glioblastoma	Associate	16101128, 23526983
Glomerulonephritis IGA	Associate	34861820
Hereditary leiomyomatosis and renal cell cancer	Associate	7632957, 9746788
Hodgkin Disease	Associate	11241300, 16332968, 7632957, 7693972, 9746788, 9774558
Hyperoxia	Stimulate	29155844
Hypersensitivity Delayed	Stimulate	21821548
Ichthyosis Vulgaris	Associate	25548428
Infections	Stimulate	15207616
Infections	Associate	19002111, 23308294, 7933121
Infections	Inhibit	29462212
Infectious Mononucleosis	Associate	7933121
Leukemia Myeloid Acute	Associate	24056819, 24377540
Lupus Erythematosus Systemic	Associate	19167523
Lupus Nephritis	Associate	31638917
Lymphoma	Associate	9490694
Lymphoma B Cell	Associate	1710288
Lymphoma T Cell	Associate	23628820
Lymphoma T Cell Peripheral	Associate	8396685
Lymphoproliferative Disorders	Associate	21896011, 23346186
Melanoma	Associate	10079252, 23360169, 32060274, 9632673
Microscopic Polyangiitis	Associate	23690996, 28569178
Mitochondrial Diseases	Stimulate	37433777
Monoclonal Gammopathy of Undetermined Significance	Associate	20008301
Multiple Myeloma	Associate	24377540
Multiple Sclerosis	Inhibit	20174631
Myositis	Associate	25098831
Myositis Inclusion Body	Associate	37153570
Nasopharyngeal Carcinoma	Associate	11241300, 1313894, 14694109, 16332968, 18087217, 19881953, 21039050, 21821548, 22051182, 22837212, 24109232, 33771238, 34257379, 7693972, 8396685
Nasopharyngeal Neoplasms	Associate	21039050, 33771238
Neoplasm Metastasis	Associate	21039050, 27497761, 28639897
Neoplasm Metastasis	Inhibit	37986152
Neoplasms	Associate	11241300, 12836015, 15611290, 16101128, 16148164, 17609424, 18181098, 18694960, 19002111, 20671118, 21741845, 24040045, 24154688, 24344220, 25329802, 26399368, 29073155, 32808978, 34189853, 36700205, 36746983, 7693972
Neoplasms	Inhibit	15265880, 16855371, 37986152
Niemann Pick Disease Type C	Associate	31554374
Non Muscle Invasive Bladder Neoplasms	Stimulate	40012053
Oncocytoma renal	Associate	22705098
Osteoporosis	Associate	32805449
Ovarian Neoplasms	Associate	22249249
Pancreatic Neoplasms	Associate	24040045
Parkinson Disease	Associate	27098790
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24056819
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	27599459
Primary Myelofibrosis	Associate	32331228
Pyruvate Carboxylase Deficiency Disease	Associate	27497761
Retinoblastoma	Associate	14983503
Rheumatic Diseases	Associate	7763114
Seizures	Associate	30249265
Sjogren's Syndrome	Associate	16414974, 37153570
Spondylitis Ankylosing	Associate	22034108, 7763114
Stomach Neoplasms	Associate	19002111
Triple Negative Breast Neoplasms	Associate	36746983
Tuberculosis	Associate	37340462
Tuberculosis Multidrug Resistant	Associate	37340462
Tuberculosis Spinal	Associate	37340462
Tuberous Sclerosis	Stimulate	27566410
Urethral Neoplasms	Associate	19756593
Urinary Bladder Neoplasms	Inhibit	39716185
Uterine Cervical Dysplasia	Inhibit	23024775
Uterine Cervical Neoplasms	Associate	28639897
Uterine Cervical Neoplasms	Stimulate	37986152
Uveitis Anterior	Associate	7763114, 9306872
Vitiligo	Associate	25548428, 28129744