PSMA3 (proteasome 20S subunit alpha 3)

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

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)

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
  PF10584	Proteasome_A_N	8 → 30	Proteasome subunit A N-terminal signature	Family
  PF00227	Proteasome	31 → 217	Proteasome subunit	Domain

• Sequence:

  MSSIGTGYDLSASTFSPDGRVFQVEYAMKAVENSSTAIGIRCKDGVVFGVEKLVLSKLYE
  EGSNKRLFNVDRHVGMAVAGLLADARSLADIAREEASNFRSNFGYNIPLKHLADRVAMYV
  HAYTLYSAVRPFGCSFMLGSYSVNDGAQLYMIDPSGVSYGYWGCAIGKARQAAKTEIEKL
  QMKEMTCRDIVKEVAKIIYIVHDEVKDKAFELELSWVGELTNGRHEIVPKDIREEAEKYA
  KESLKEEDESDDDNM

• Sequence length: 255

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
Phenotype Name	Clinical Significance	Source	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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	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	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
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32005028, 34755333	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34294084	Stimulate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	24875235		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37088992	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34610219	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30610101		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24455213	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34755333	Inhibit	★☆☆☆☆ Found in Text Mining only
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC	Proteasome-associated autoinflammatory syndrome, digenic	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sjogren's Syndrome	Sjogren syndrome	Pubtator	34284720	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34457087	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27966459	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	28390009	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34720049, 35669725	Associate	★☆☆☆☆ Found in Text Mining only