PSMA3 (proteasome 20S subunit alpha 3)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5684
• Gene name: Proteasome 20S subunit alpha 3
• Gene symbol: PSMA3
• Synonyms (NCBI Gene): HC8, PSC3
• Chromosome: 14
• Chromosome location: 14q23.1
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555352516	T>C	Pathogenic	Splice donor variant

miRNA Show/Hide all (64)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050117	hsa-miR-26a-5p	CLASH	23622248
MIRT044295	hsa-miR-106b-5p	CLASH	23622248
MIRT043928	hsa-miR-378a-3p	CLASH	23622248
MIRT042723	hsa-miR-346	CLASH	23622248
MIRT054213	hsa-miR-147a	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23028679
MIRT1269983	hsa-miR-1269	CLIP-seq
MIRT1269984	hsa-miR-1269b	CLIP-seq
MIRT1269985	hsa-miR-1287	CLIP-seq
MIRT1269986	hsa-miR-1288	CLIP-seq
MIRT1269987	hsa-miR-144	CLIP-seq
MIRT1269988	hsa-miR-3121-3p	CLIP-seq
MIRT1269989	hsa-miR-3135b	CLIP-seq
MIRT1269990	hsa-miR-338-5p	CLIP-seq
MIRT1269991	hsa-miR-3647-3p	CLIP-seq
MIRT1269992	hsa-miR-3924	CLIP-seq
MIRT1269993	hsa-miR-4515	CLIP-seq
MIRT1269994	hsa-miR-4520a-3p	CLIP-seq
MIRT1269995	hsa-miR-4520b-3p	CLIP-seq
MIRT1269996	hsa-miR-4529-3p	CLIP-seq
MIRT1269997	hsa-miR-4645-3p	CLIP-seq
MIRT1269998	hsa-miR-4666-3p	CLIP-seq
MIRT1269999	hsa-miR-4685-5p	CLIP-seq
MIRT1270000	hsa-miR-4740-5p	CLIP-seq
MIRT1270001	hsa-miR-568	CLIP-seq
MIRT1269987	hsa-miR-144	CLIP-seq
MIRT1269988	hsa-miR-3121-3p	CLIP-seq
MIRT1269992	hsa-miR-3924	CLIP-seq
MIRT1269994	hsa-miR-4520a-3p	CLIP-seq
MIRT1269995	hsa-miR-4520b-3p	CLIP-seq
MIRT1269997	hsa-miR-4645-3p	CLIP-seq
MIRT1269999	hsa-miR-4685-5p	CLIP-seq
MIRT1270001	hsa-miR-568	CLIP-seq
MIRT1269983	hsa-miR-1269	CLIP-seq
MIRT1269984	hsa-miR-1269b	CLIP-seq
MIRT1269985	hsa-miR-1287	CLIP-seq
MIRT1269986	hsa-miR-1288	CLIP-seq
MIRT1269987	hsa-miR-144	CLIP-seq
MIRT1269988	hsa-miR-3121-3p	CLIP-seq
MIRT1269989	hsa-miR-3135b	CLIP-seq
MIRT1269990	hsa-miR-338-5p	CLIP-seq
MIRT1269992	hsa-miR-3924	CLIP-seq
MIRT1269993	hsa-miR-4515	CLIP-seq
MIRT1269994	hsa-miR-4520a-3p	CLIP-seq
MIRT1269995	hsa-miR-4520b-3p	CLIP-seq
MIRT1269996	hsa-miR-4529-3p	CLIP-seq
MIRT1269997	hsa-miR-4645-3p	CLIP-seq
MIRT1269998	hsa-miR-4666-3p	CLIP-seq
MIRT1269999	hsa-miR-4685-5p	CLIP-seq
MIRT1270000	hsa-miR-4740-5p	CLIP-seq
MIRT1270001	hsa-miR-568	CLIP-seq
MIRT1269983	hsa-miR-1269	CLIP-seq
MIRT1269984	hsa-miR-1269b	CLIP-seq
MIRT1269986	hsa-miR-1288	CLIP-seq
MIRT1269987	hsa-miR-144	CLIP-seq
MIRT1269988	hsa-miR-3121-3p	CLIP-seq
MIRT1269992	hsa-miR-3924	CLIP-seq
MIRT1269993	hsa-miR-4515	CLIP-seq
MIRT1269994	hsa-miR-4520a-3p	CLIP-seq
MIRT1269995	hsa-miR-4520b-3p	CLIP-seq
MIRT1269996	hsa-miR-4529-3p	CLIP-seq
MIRT1269997	hsa-miR-4645-3p	CLIP-seq
MIRT1269999	hsa-miR-4685-5p	CLIP-seq
MIRT1270000	hsa-miR-4740-5p	CLIP-seq
MIRT1270001	hsa-miR-568	CLIP-seq

Gene ontology (GO) Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IDA	17323924, 26524591
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	NAS	29636472
GO:0000502	Component	Proteasome complex	TAS	8811196
GO:0005515	Function	Protein binding	IPI	11146632, 12376572, 12826010, 14733938, 15225636, 16169070, 17948026, 19208651, 21516116, 21900206, 21988832, 22659184, 24722188, 25416956, 25599644, 25910212, 26871637, 29568061, 29636472, 29892012, 31473102, 31515488, 32296183, 32814053, 33961781, 34702852, 35271311, 35858375
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	34711951
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	16130169
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	34711951
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IDA	19208651, 34711951
GO:0005839	Component	Proteasome core complex	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IBA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	IEA
GO:0019773	Component	Proteasome core complex, alpha-subunit complex	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16207813
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	26524591
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337

Other IDs

• MIM: 176843
• HGNC: 9532
• e!Ensembl: ENSG00000100567

Protein

• UniProt ID: P25788
• Protein name: Proteasome subunit alpha type-3 (Macropain subunit C8) (Multicatalytic endopeptidase complex subunit C8) (Proteasome component C8) (Proteasome subunit alpha-7) (alpha-7)
• Protein function: Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with
• PDB: 4R3O , 4R67 , 5A0Q , 5DSV , 5GJQ , 5GJR , 5L4G , 5LE5 , 5LEX , 5LEY , 5LEZ , 5LF0 , 5LF1 , 5LF3 , 5LF4 , 5LF6 , 5LF7 , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFO , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 6AVO , 6E5B , 6KWY , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6R70 , 6REY , 6RGQ , 6WJD , 6WJN , 6XMJ , 7AWE , 7B12 , 7E55 , 7LXV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00227	Proteasome	31 → 217	Proteasome subunit	Domain
  PF10584	Proteasome_A_N	8 → 30	Proteasome subunit A N-terminal signature	Family

• Sequence:

  MSSIGTGYDLSASTFSPDGRVFQVEYAMKAVENSSTAIGIRCKDGVVFGVEKLVLSKLYE
  EGSNKRLFNVDRHVGMAVAGLLADARSLADIAREEASNFRSNFGYNIPLKHLADRVAMYV
  HAYTLYSAVRPFGCSFMLGSYSVNDGAQLYMIDPSGVSYGYWGCAIGKARQAAKTEIEKL
  QMKEMTCRDIVKEVAKIIYIVHDEVKDKAFELELSWVGELTNGRHEIVPKDIREEAEKYA
  KESLKEEDESDDDNM

• Sequence length: 255

Pathways

KEGG Pathway	Reactome Pathway
Proteasome	Activation of NF-kappaB in B cells
Alzheimer disease	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Parkinson disease	Cross-presentation of soluble exogenous antigens (endosomes)
Amyotrophic lateral sclerosis	Autodegradation of Cdh1 by Cdh1:APC/C
Huntington disease	SCF-beta-TrCP mediated degradation of Emi1
Spinocerebellar ataxia	APC/C:Cdc20 mediated degradation of Securin
Prion disease	APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Pathways of neurodegeneration - multiple diseases	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

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
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC	Pathogenic	rs1555353410, rs1555352516	RCV000663431 RCV000663432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (7)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSMA3-related disorder	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	32541925, 35893037, 38685053	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (24)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	36405716	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	24875235	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	24875235, 30940621	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25375907		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28990063	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28560424		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35022330, 36144640	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33275226	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26661414		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32005028	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PSMB4 1 shared diseaseProteasome associated autoinflammatory syndrome 54 shared pathwaysProteasome, Parkinson disease, Spinocerebellar ataxia, Prion disease, 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 +42 more 1 shared evidence sourceDisgenet (Proteasome associated autoinflammatory syndrome) Related via 54 shared pathways including Proteasome, Parkinson disease — evidence mostly Disgenet. PSMA1 54 shared pathwaysProteasome, Parkinson disease, Spinocerebellar ataxia, Prion disease, 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 +42 more Related via 54 shared pathways including Proteasome, Parkinson disease. PSMA2 54 shared pathwaysProteasome, Parkinson disease, Spinocerebellar ataxia, Prion disease, 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 +42 more Related via 54 shared pathways including Proteasome, Parkinson disease. PSMA4 54 shared pathwaysProteasome, Parkinson disease, Spinocerebellar ataxia, Prion disease, 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 +42 more Related via 54 shared pathways including Proteasome, Parkinson disease. PSMA5 54 shared pathwaysProteasome, Parkinson disease, Spinocerebellar ataxia, Prion disease, 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 +42 more Related via 54 shared pathways including Proteasome, Parkinson disease.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PSMB4	1	["Proteasome associated autoinflammatory syndrome"]	54	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","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"]	1	["Disgenet (Proteasome associated autoinflammatory syndrome)"]
PSMA1	0	[]	54	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","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"]	0	[]
PSMA2	0	[]	54	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","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"]	0	[]
PSMA4	0	[]	54	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","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"]	0	[]
PSMA5	0	[]	54	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","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"]	0	[]

Diseases Linked via Similar Genes

Osteoporosis Linked via 2 of 5 related genesPSMA2, PSMA5 Candle syndrome Linked via 1 of 5 related genesPSMB4 Major depressive disorder Linked via 1 of 5 related genesPSMB4 Myocardial infarction Linked via 1 of 5 related genesPSMB4 Depression Linked via 1 of 5 related genesPSMB4

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Osteoporosis	2	["PSMA2","PSMA5"]
Candle syndrome	1	["PSMB4"]
Major depressive disorder	1	["PSMB4"]
Myocardial infarction	1	["PSMB4"]
Depression	1	["PSMB4"]