PSME1 (proteasome activator subunit 1)

Gene

• Entrez ID: 5720
• Gene name: Proteasome activator subunit 1
• Gene symbol: PSME1
• Synonyms (NCBI Gene): HEL-S-129m, IFI5111, PA28A, PA28alpha, REGalpha
• Chromosome: 14
• Chromosome location: 14q12
• Summary: The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits a

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023950	hsa-miR-1-3p	Proteomics	18668040
MIRT029951	hsa-miR-26b-5p	Microarray	19088304
MIRT045261	hsa-miR-186-5p	CLASH	23622248
MIRT043440	hsa-miR-331-3p	CLASH	23622248
MIRT043135	hsa-miR-324-5p	CLASH	23622248
MIRT039420	hsa-miR-421	CLASH	23622248
MIRT1270744	hsa-miR-185	CLIP-seq
MIRT1270745	hsa-miR-4257	CLIP-seq
MIRT1270746	hsa-miR-4270	CLIP-seq
MIRT1270747	hsa-miR-4306	CLIP-seq
MIRT1270748	hsa-miR-4441	CLIP-seq
MIRT1270749	hsa-miR-4644	CLIP-seq
MIRT1270750	hsa-miR-4704-3p	CLIP-seq
MIRT1270751	hsa-miR-4721	CLIP-seq
MIRT2305941	hsa-miR-1289	CLIP-seq
MIRT1270744	hsa-miR-185	CLIP-seq
MIRT2305942	hsa-miR-2110	CLIP-seq
MIRT2305943	hsa-miR-216a	CLIP-seq
MIRT2305944	hsa-miR-2355-5p	CLIP-seq
MIRT2305945	hsa-miR-3150a-3p	CLIP-seq
MIRT2305946	hsa-miR-3198	CLIP-seq
MIRT2305947	hsa-miR-4260	CLIP-seq
MIRT2305948	hsa-miR-4294	CLIP-seq
MIRT1270747	hsa-miR-4306	CLIP-seq
MIRT2305949	hsa-miR-4309	CLIP-seq
MIRT2305950	hsa-miR-4476	CLIP-seq
MIRT1270749	hsa-miR-4644	CLIP-seq
MIRT2305951	hsa-miR-4709-5p	CLIP-seq
MIRT2305952	hsa-miR-4718	CLIP-seq
MIRT2305953	hsa-miR-493	CLIP-seq
MIRT2305954	hsa-miR-516b	CLIP-seq
MIRT2305955	hsa-miR-593	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	TAS	8811196
GO:0005515	Function	Protein binding	IPI	16189514, 32296183, 32814053, 33961781, 35271311
GO:0005654	Component	Nucleoplasm	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	TAS
GO:0008537	Component	Proteasome activator complex	IEA
GO:0019884	Process	Antigen processing and presentation of exogenous antigen	IEA
GO:0061133	Function	Endopeptidase activator activity	IBA
GO:0061133	Function	Endopeptidase activator activity	IEA
GO:0061136	Process	Regulation of proteasomal protein catabolic process	IBA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IBA

Other IDs

• MIM: 600654
• HGNC: 9568
• e!Ensembl: ENSG00000092010

Protein

• UniProt ID: Q06323
• Protein name: Proteasome activator complex subunit 1 (11S regulator complex subunit alpha) (REG-alpha) (Activator of multicatalytic protease subunit 1) (Interferon gamma up-regulated I-5111 protein) (IGUP I-5111) (Proteasome activator 28 subunit alpha) (PA28a) (PA28alp
• Protein function: Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome.
• PDB: 1AVO, 7DR6, 7DRW, 7NAO, 7NAP, 8CXB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02251	PA28_alpha	8 → 68	Proteasome activator pa28 alpha subunit	Family
  PF02252	PA28_beta	103 → 247	Proteasome activator pa28 beta subunit	Family

• Sequence:

  MAMLRVQPEAQAKVDVFREDLCTKTENLLGSYFPKKISELDAFLKEPALNEANLSNLKAP
  LDIPVPDPVKEKEKEERKKQQEKEDKDEKKKGEDEDKGPPCGPVNCNEKIVVLLQRLKPE
  IKDVIEQLNLVTTWLQLQIPRIEDGNNFGVAVQEKVFELMTSLHTKLEGFHTQISKYFSE
  RGDAVTKAAKQPHVGDYRQLVHELDEAEYRDIRLMVMEIRNAYAVLYDIILKNFEKLKKP
  RGETKGMIY

• Sequence length: 249

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	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	39392298	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	39511617	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34812532	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39342401	Associate	★☆☆☆☆ 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
Carcinoma	Carcinoma	CTD_human_DG	16316942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28585036		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12519221		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39342401	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21517111	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastritis Atrophic	Gastritis	Pubtator	22370706	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	22370706		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	15198127		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	27174013		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	27174013		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33318477	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	15198127		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17939699		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20671603	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	21517111		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19691830	Stimulate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only