Gene Gene information from NCBI Gene database.
Entrez ID 7311
Gene name 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
miRNA miRNA information provided by mirtarbase database.
466
miRTarBase ID miRNA Experiments Reference
MIRT051853 hsa-let-7c-5p CLASH 23622248
MIRT045345 hsa-miR-185-5p CLASH 23622248
MIRT044819 hsa-miR-320a CLASH 23622248
MIRT043902 hsa-miR-378a-3p CLASH 23622248
MIRT041941 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0002181 Process Cytoplasmic translation IC 23636399
GO:0002181 Process Cytoplasmic translation IDA 39048817
GO:0002181 Process Cytoplasmic translation NAS 25901680
GO:0003735 Function Structural constituent of ribosome IBA
GO:0003735 Function Structural constituent of ribosome IDA 23636399, 32669547, 39048817
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191321 12458 ENSG00000221983
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62987
Protein name 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
PDB 2LJ5 , 2MBH , 2MJB , 2MUR , 2N3U , 2N3V , 2N3W , 2NBD , 2NBE , 2RSU , 4HJK , 4JIO , 4P4H , 4PIG , 4PIH , 4PIJ , 4RF0 , 4RF1 , 4S1Z , 4UG0 , 4V6X , 4XKL , 5AJ0 , 5GO7 , 5GO8 , 5GOB , 5GOC , 5GOD , 5GOG , 5GOH , 5GOI , 5GOJ , 5GOK , 5HPK , 5HPL , 5HPS , 5HPT , 5J26 , 5J8P , 5JBV , 5JBY , 5LKS , 5T2C , 6IP5 , 6IP6 , 6IP8 , 6LQM , 6OLE , 6OLF , 6OLG , 6OLI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00240 ubiquitin 3 74 Ubiquitin family Domain
PF01020 Ribosomal_L40e 78 127 Ribosomal L40e family Family
Sequence
Sequence length 128
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
Melanoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, SPINE GWAS catalog
★★☆☆☆
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 32812532 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 39342401 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 35751199 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 22258406 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 33399095 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 32812532 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 8541345
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30690837, 8541345
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 30690837 Associate
★☆☆☆☆
Found in Text Mining only
Complement Component C1s Deficiency Complement component deficiency Pubtator 31537905 Associate
★☆☆☆☆
Found in Text Mining only