Gene Gene information from NCBI Gene database.
Entrez ID 5685
Gene name Proteasome 20S subunit alpha 4
Gene symbol PSMA4
Synonyms (NCBI Gene)
HC9HsT17706PSC9
Chromosome 15
Chromosome location 15q25.1
Summary This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq,
miRNA miRNA information provided by mirtarbase database.
133
miRTarBase ID miRNA Experiments Reference
MIRT049531 hsa-miR-92a-3p CLASH 23622248
MIRT043029 hsa-miR-324-5p CLASH 23622248
MIRT1270002 hsa-miR-142-5p CLIP-seq
MIRT1270003 hsa-miR-208a CLIP-seq
MIRT1270004 hsa-miR-208b CLIP-seq
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:0000932 Component P-body IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176846 9533 ENSG00000041357
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P25789
Protein name Proteasome subunit alpha type-4 (Macropain subunit C9) (Multicatalytic endopeptidase complex subunit C9) (Proteasome component C9) (Proteasome subunit L) (Proteasome subunit alpha-3) (alpha-3)
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 5 27 Proteasome subunit A N-terminal signature Family
PF00227 Proteasome 28 216 Proteasome subunit Domain
Sequence
Sequence length 261
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Proteasome
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
  Activation of NF-kappaB in B cells
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Cross-presentation of soluble exogenous antigens (endosomes)
Autodegradation of Cdh1 by Cdh1:APC/C
SCF-beta-TrCP mediated degradation of Emi1
APC/C:Cdc20 mediated degradation of Securin
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
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.).
13
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
ATHEROSCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC LUNG DISEASE 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
Alveolar Soft Part Sarcoma Alveolar Sarcoma BEFREE 23980094
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic aneurysm Pubtator 35952493 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 35952493 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma CTD_human_DG 16316942
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma of lung Lung carcinoma BEFREE 19789337, 20587604, 25744645, 29486777
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 29486777 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Spindle-Cell Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 25206290 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 23637351 Associate
★☆☆☆☆
Found in Text Mining only