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
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which
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)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name
Clinical Significance
dbSNP ID
RCV Accession
Evidence Score
Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
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.
["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21","Orc1 removal from chromatin"]
["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]
["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]
["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]
["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to PSMC1 (see Related Genes above), that are NOT already directly curated for PSMC1 itself -- a lead worth checking, not a confirmed association.