Ubiquitin A-52 residue ribosomal protein fusion product 1
Gene symbol
UBA52
Synonyms (NCBI Gene)
CEP52HUBCEP52L40RPL40
Chromosome
19
Chromosome location
19p13.11
Summary
Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, 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.
Ubiquitin-ribosomal protein eL40 fusion protein (CEP52) (Ubiquitin A-52 residue ribosomal protein fusion product 1) [Cleaved into: Ubiquitin; Large ribosomal subunit protein eL40 (60S ribosomal protein L40) (rpL40)]
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
Melanoma
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
["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"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to UBA52 (see Related Genes above), that are NOT already directly curated for UBA52 itself -- a lead worth checking, not a confirmed association.