Gene Gene information from NCBI Gene database.
Entrez ID 5682
Gene name Proteasome 20S subunit alpha 1
Gene symbol PSMA1
Synonyms (NCBI Gene)
HC2HEL-S-275NUPROS30
Chromosome 11
Chromosome location 11p15.2
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
miRNA miRNA information provided by mirtarbase database.
128
miRTarBase ID miRNA Experiments Reference
MIRT454272 hsa-miR-548l PAR-CLIP 23592263
MIRT454270 hsa-miR-3973 PAR-CLIP 23592263
MIRT454271 hsa-miR-520g-3p PAR-CLIP 23592263
MIRT454269 hsa-miR-520h PAR-CLIP 23592263
MIRT454267 hsa-miR-4772-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IDA 17323924
GO:0000502 Component Proteasome complex IEA
GO:0000502 Component Proteasome complex NAS 29636472
GO:0000502 Component Proteasome complex TAS 8811196
GO:0001530 Function Lipopolysaccharide binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602854 9530 ENSG00000129084
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P25786
Protein name Proteasome subunit alpha type-1 (30 kDa prosomal protein) (PROS-30) (Macropain subunit C2) (Multicatalytic endopeptidase complex subunit C2) (Proteasome component C2) (Proteasome nu chain) (Proteasome subunit alpha-6) (alpha-6)
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 , 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 , 7LXV , 7NAN , 7NAO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10584 Proteasome_A_N 6 28 Proteasome subunit A N-terminal signature Family
PF00227 Proteasome 29 215 Proteasome subunit Domain
Sequence
Sequence length 263
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 17127214 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 25206290 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36776923 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 18021222, 28943170
★☆☆☆☆
Found in Text Mining only
Cervical Intraepithelial Neoplasia Cervical Intraepithelial Neoplasia BEFREE 17433827, 18021222
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 18021222, 28943170
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 25206290, 34120619 Associate
★☆☆☆☆
Found in Text Mining only
Graves Ophthalmopathy Graves ophthalmopathy Pubtator 36076300 Associate
★☆☆☆☆
Found in Text Mining only
Head and Neck Carcinoma Head And Neck Carcinoma BEFREE 27966459
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 32664164 Associate
★☆☆☆☆
Found in Text Mining only