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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 Show/Hide all (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 Show/Hide all (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
PF00227 Proteasome 29 → 215 Proteasome subunit Domain
PF10584 Proteasome_A_N 6 → 28 Proteasome subunit A N-terminal signature Family
Sequence
Sequence length 263
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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 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 Reference Evidence Score
Colon adenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (29)
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