PSMB9 (proteasome 20S subunit beta 9)

Gene

• Entrez ID: 5698
• Gene name: Proteasome 20S subunit beta 9
• Gene symbol: PSMB9
• Synonyms: 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:0000165	Process	MAPK cascade	TAS
GO:0000209	Process	Protein polyubiquitination	TAS
GO:0000502	Component	Proteasome complex	TAS	8666937
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0004175	Function	Endopeptidase activity	IBA	21873635
GO:0004298	Function	Threonine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	14733938, 16957778, 18985028, 20723761, 28514442, 30833792, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IBA	21873635
GO:0005839	Component	Proteasome core complex	ISS
GO:0006521	Process	Regulation of cellular amino acid metabolic process	TAS
GO:0010499	Process	Proteasomal ubiquitin-independent protein catabolic process	IBA	21873635
GO:0010972	Process	Negative regulation of G2/M transition of mitotic cell cycle	TAS
GO:0016032	Process	Viral process	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0019774	Component	Proteasome core complex, beta-subunit complex	ISS
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	TAS
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	TAS
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0038061	Process	NIK/NF-kappaB signaling	TAS
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	TAS
GO:0043488	Process	Regulation of mRNA stability	TAS
GO:0043687	Process	Post-translational protein modification	TAS
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0055085	Process	Transmembrane transport	TAS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0061418	Process	Regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	TAS
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	TAS
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	TAS
GO:1990111	Component	Spermatoproteasome complex	ISS
GO:2000116	Process	Regulation of cysteine-type endopeptidase activity	IMP	26524591

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
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Dermatitis	Acrodermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	27258892
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17632545
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Proteasome-associated autoinflammatory syndrome	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	rs387906680, rs146254972, rs1555257073, rs1554239543, rs1553209362, rs1553209373, rs1555257075, rs1555257076, rs748082671	26524591
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	19503088
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	28540026

Unknown
Disease name	Disease term	dbSNP ID	References
Acanthosis nigricans	Acanthosis Nigricans	rs780668
Conjunctivitis	Conjunctivitis
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	23266558
Development disorder	Child Development Disorders, Pervasive		28540026
Gianotti-crosti syndrome	Gianotti-Crosti Syndrome		27258892
Lymphopenia	Lymphopenia
Myositis	Myositis
Nakajo syndrome	Nakajo syndrome		26524591
Oral ulcer	Oral Ulcer		30837455
Panniculitis	Panniculitis
Sinusitis	Sinusitis