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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome
Ubiquitin mediated proteolysis
Mitophagy - animal
Autophagy - animal
Parkinson disease
Pathways of neurodegeneration - multiple diseases
Shigellosis
Kaposi sarcoma-associated herpesvirus infection
Coronavirus disease - COVID-19
  Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Activation of NF-kappaB in B cells
ISG15 antiviral mechanism
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
Downregulation of ERBB4 signaling
Spry regulation of FGF signaling
Downregulation of ERBB2:ERBB3 signaling
L13a-mediated translational silencing of Ceruloplasmin expression
Budding and maturation of HIV virion
NOD1/2 Signaling Pathway
TICAM1, RIP1-mediated IKK complex recruitment
DDX58/IFIH1-mediated induction of interferon-alpha/beta
APC/C:Cdc20 mediated degradation of Cyclin B
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
Membrane binding and targetting of GAG proteins
Assembly Of The HIV Virion
APC-Cdc20 mediated degradation of Nek2A
SRP-dependent cotranslational protein targeting to membrane
Vpu mediated degradation of CD4
Vif-mediated degradation of APOBEC3G
EGFR downregulation
SCF(Skp2)-mediated degradation of p27/p21
Viral mRNA Translation
Degradation of beta-catenin by the destruction complex
TCF dependent signaling in response to WNT
Downstream TCR signaling
NRIF signals cell death from the nucleus
p75NTR recruits signalling complexes
NF-kB is activated and signals survival
Activated NOTCH1 Transmits Signal to the Nucleus
Downregulation of TGF-beta receptor signaling
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
Downregulation of SMAD2/3:SMAD4 transcriptional activity
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Separation of Sister Chromatids
Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
Oncogene Induced Senescence
Regulation of PLK1 Activity at G2/M Transition
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Stimuli-sensing channels
Constitutive Signaling by NOTCH1 HD Domain Mutants
FCERI mediated NF-kB activation
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Regulation of innate immune responses to cytosolic DNA
Glycogen synthesis
Autodegradation of the E3 ubiquitin ligase COP1
Deactivation of the beta-catenin transactivating complex
Myoclonic epilepsy of Lafora
ABC-family proteins mediated transport
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
activated TAK1 mediates p38 MAPK activation
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
AUF1 (hnRNP D0) binds and destabilizes mRNA
Asymmetric localization of PCP proteins
Degradation of AXIN
Degradation of DVL
Regulation of FZD by ubiquitination
Pink/Parkin Mediated Mitophagy
N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
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
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Negative regulation of FGFR3 signaling
Negative regulation of FGFR4 signaling
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis
Regulation of RAS by GAPs
TNFR2 non-canonical NF-kB pathway
Negative regulation of MAPK pathway
Regulation of necroptotic cell death
NIK-->noncanonical NF-kB signaling
Defective CFTR causes cystic fibrosis
MAP3K8 (TPL2)-dependent MAPK1/3 activation
HDR through Homologous Recombination (HRR)
MAPK6/MAPK4 signaling
UCH proteinases
Josephin domain DUBs
Ub-specific processing proteases
Ovarian tumor domain proteases
Metalloprotease DUBs
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Processing of DNA double-strand break ends
DNA Damage Recognition in GG-NER
Formation of Incision Complex in GG-NER
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Fanconi Anemia Pathway
Major pathway of rRNA processing in the nucleolus and cytosol
Regulation of TP53 Activity through Phosphorylation
Regulation of TP53 Degradation
Regulation of TP53 Activity through Methylation
Negative regulation of MET activity
CDT1 association with the CDC6:ORC:origin complex
Orc1 removal from chromatin
CDK-mediated phosphorylation and removal of Cdc6
Cyclin D associated events in G1
G2/M Checkpoints
Stabilization of p53
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
Formation of a pool of free 40S subunits
GTP hydrolysis and joining of the 60S ribosomal subunit
Ubiquitin-dependent degradation of Cyclin D
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
The role of GTSE1 in G2/M progression after G2 checkpoint
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Downregulation of ERBB2 signaling
Synthesis of active ubiquitin: roles of E1 and E2 enzymes
E3 ubiquitin ligases ubiquitinate target proteins
InlB-mediated entry of Listeria monocytogenes into host cell
InlA-mediated entry of Listeria monocytogenes into host cells
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 localization
Regulation of PTEN stability and activity
Neddylation
ER Quality Control Compartment (ERQC)
Regulation of expression of SLITs and ROBOs
NOTCH3 Activation and Transmission of Signal to the Nucleus
TICAM1-dependent activation of IRF3/IRF7
TICAM1,TRAF6-dependent induction of TAK1 complex
Interleukin-1 signaling
Peroxisomal protein import
Regulation of signaling by CBL
Endosomal Sorting Complex Required For Transport (ESCRT)
Iron uptake and transport
Negative regulators of DDX58/IFIH1 signaling
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
IRAK1 recruits IKK complex
IKK complex recruitment mediated by RIP1
IRAK2 mediated activation of TAK1 complex
TRAF6-mediated induction of TAK1 complex within TLR4 complex
Prevention of phagosomal-lysosomal fusion
Modulation by Mtb of host immune system
Alpha-protein kinase 1 signaling pathway
Aggrephagy
Pexophagy
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Amyloid fiber formation
Antigen processing: Ubiquitination & Proteasome degradation
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