Gene Gene information from NCBI Gene database.
Entrez ID 5688
Gene name Proteasome 20S subunit alpha 7
Gene symbol PSMA7
Synonyms (NCBI Gene)
C6HEL-S-276HSPCRC6-1XAPC7
Chromosome 20
Chromosome location 20q13.33
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 miRNA information provided by mirtarbase database.
151
miRTarBase ID miRNA Experiments Reference
MIRT049617 hsa-miR-92a-3p CLASH 23622248
MIRT041274 hsa-miR-193b-3p CLASH 23622248
MIRT040706 hsa-miR-92b-3p CLASH 23622248
MIRT456028 hsa-miR-6768-3p PAR-CLIP 23592263
MIRT456027 hsa-miR-4694-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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:0005515 Function Protein binding IPI 12376572, 14733938, 15225636, 16251969, 16990800, 17948026, 19416853, 21900206, 21988832, 25599644, 25959826, 28514442, 29568061, 29636472, 31473102, 32296183, 32814053, 33961781, 34702852, 35271311, 35858375
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606607 9536 ENSG00000101182
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14818
Protein name Proteasome subunit alpha type-7 (Proteasome subunit RC6-1) (Proteasome subunit XAPC7) (Proteasome subunit alpha-4) (alpha-4)
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 3 25 Proteasome subunit A N-terminal signature Family
PF00227 Proteasome 26 211 Proteasome subunit Domain
Sequence
Sequence length 248
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.).
3
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
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSMA7-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Variant of unknown significance Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arthritis Rheumatoid Associate 39342401
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 34604955
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Associate 37369480
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Stimulate 23839082
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Inhibit 39342401
★☆☆☆☆
Found in Text Mining only
Lung Diseases Associate 17586700, 21707890
★☆☆☆☆
Found in Text Mining only
Lung Diseases Interstitial Associate 25344067
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 38211649
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 23839082, 37369480
★☆☆☆☆
Found in Text Mining only
Neoplasms Stimulate 38211649
★☆☆☆☆
Found in Text Mining only