Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated p
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.
Ubiquitin-ribosomal protein eS31 fusion protein (Ubiquitin carboxyl extension protein 80) [Cleaved into: Ubiquitin; Small ribosomal subunit protein eS31 (40S ribosomal protein S27a)]
Protein function
[Ubiquitin]: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys re
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
Reference
Evidence Score
Familial cancer of breast
Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma
Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma
Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through text mining
["Fanconi anemia pathway","Ubiquitin mediated proteolysis","Mitophagy - animal","Autophagy - animal","Parkinson disease","Shigellosis","Kaposi sarcoma-associated herpesvirus infection","Downregulation of ERBB2:ERBB3 signaling","Regulation of TP53 Degradation","Regulation of PTEN stability and activity","Peroxisomal protein import","TICAM1-dependent activation of IRF3\/IRF7"]
["Fanconi anemia pathway","Ubiquitin mediated proteolysis","Mitophagy - animal","Autophagy - animal","Parkinson disease","Shigellosis","Kaposi sarcoma-associated herpesvirus infection","Downregulation of ERBB2:ERBB3 signaling","Regulation of TP53 Degradation","Regulation of PTEN stability and activity","Peroxisomal protein import","TICAM1-dependent activation of IRF3\/IRF7"]
["Parkinson 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","CDK-mediated phosphorylation and removal of Cdc6","Ubiquitin-dependent degradation of Cyclin D","Activation of NF-kappaB in B cells"]
["Parkinson 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","CDK-mediated phosphorylation and removal of Cdc6","Ubiquitin-dependent degradation of Cyclin D","Activation of NF-kappaB in B cells"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to RPS27A (see Related Genes above), that are NOT already directly curated for RPS27A itself -- a lead worth checking, not a confirmed association.