Gene Gene information from NCBI Gene database.
Entrez ID 9491
Gene name Proteasome inhibitor subunit 1
Gene symbol PSMF1
Synonyms (NCBI Gene)
PI31
Chromosome 20
Chromosome location 20p13
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.
469
miRTarBase ID miRNA Experiments Reference
MIRT049749 hsa-miR-92a-3p CLASH 23622248
MIRT044684 hsa-miR-320a CLASH 23622248
MIRT043618 hsa-miR-151a-3p CLASH 23622248
MIRT039672 hsa-miR-615-3p CLASH 23622248
MIRT718204 hsa-miR-451b HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IEA
GO:0004866 Function Endopeptidase inhibitor activity IEA
GO:0004866 Function Endopeptidase inhibitor activity NAS 10764772
GO:0005515 Function Protein binding IPI 16000308, 16713569, 19060904, 21988832, 25416956, 25910212, 26496610, 28514442, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617858 9571 ENSG00000125818
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92530
Protein name Proteasome inhibitor PI31 subunit (hPI31)
Protein function Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28. {ECO
PDB 2VT8 , 4OUH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11566 PI31_Prot_N 11 149 PI31 proteasome regulator N-terminal Family
PF08577 PI31_Prot_C 153 248 PI31 proteasome regulator Family
Sequence
Sequence length 271
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 31585107 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 31585107
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 36295489 Associate
★☆☆☆☆
Found in Text Mining only
Hashimoto Disease Hashimoto disease Pubtator 34867951 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only