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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 Show/Hide all (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 Show/Hide all (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
PF08577 PI31_Prot_C 153 → 248 PI31 proteasome regulator Family
PF11566 PI31_Prot_N 11 → 149 PI31 proteasome regulator N-terminal Family
Sequence
Sequence length 271
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
  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.).
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.
Show/Hide Unknown Diseases (10)
Phenotype Name Clinical Significance Source Reference 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
Melanoma 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