Gene Gene information from NCBI Gene database.
Entrez ID 5686
Gene name Proteasome 20S subunit alpha 5
Gene symbol PSMA5
Synonyms (NCBI Gene)
PSC5ZETA
Chromosome 1
Chromosome location 1p13.3
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.
283
miRTarBase ID miRNA Experiments Reference
MIRT048502 hsa-miR-100-5p CLASH 23622248
MIRT442427 hsa-miR-6800-3p PAR-CLIP 22100165
MIRT442426 hsa-miR-3185 PAR-CLIP 22100165
MIRT442425 hsa-miR-4709-3p PAR-CLIP 22100165
MIRT442424 hsa-miR-192-3p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
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 15225636, 16251969, 16990800, 17948026, 29426014, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176844 9534 ENSG00000143106
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28066
Protein name Proteasome subunit alpha type-5 (Macropain zeta chain) (Multicatalytic endopeptidase complex zeta chain) (Proteasome subunit alpha-5) (alpha-5) (Proteasome zeta chain)
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 8 30 Proteasome subunit A N-terminal signature Family
PF00227 Proteasome 31 220 Proteasome subunit Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal brain (at protein level). {ECO:0000269|PubMed:11771738}.
Sequence
Sequence length 241
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FATTY LIVER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
alpha-Thalassemia alpha Thalassemia BEFREE 3756105, 7672089
★☆☆☆☆
Found in Text Mining only
alpha^+^ Thalassemia alpha Thalassemia BEFREE 3756105
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 18003890
★☆☆☆☆
Found in Text Mining only
beta Thalassemia beta Thalassemia BEFREE 9267896
★☆☆☆☆
Found in Text Mining only
beta^+^ Thalassemia beta Thalassemia BEFREE 9267896
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 9121309
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome LHGDN 11771738
★☆☆☆☆
Found in Text Mining only
Exfoliation Syndrome Exfoliation Syndrome BEFREE 30738879
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver CTD_human_DG 25226513
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hematological Disease Hematological Disease BEFREE 18854088
★☆☆☆☆
Found in Text Mining only