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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 Show/Hide all (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 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: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
PF00227 Proteasome 28 → 216 Proteasome subunit Domain
PF10584 Proteasome_A_N 5 → 27 Proteasome subunit A N-terminal signature Family
Sequence
Sequence length 261
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.).
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.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATHEROSCLEROSIS — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA — CTD 16316942
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC LUNG DISEASE — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE — 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 (31)
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