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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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
Ribosome Translesion synthesis by REV1
Ubiquitin mediated proteolysis Recognition of DNA damage by PCNA-containing replication complex
Mitophagy - animal Translesion Synthesis by POLH
Autophagy - animal Activation of NF-kappaB in B cells
Parkinson disease ISG15 antiviral mechanism
Pathways of neurodegeneration - multiple diseases Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Shigellosis Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
Kaposi sarcoma-associated herpesvirus infection Downregulation of ERBB4 signaling
Coronavirus disease - COVID-19 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 Reference Evidence Score
Melanoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, SPINE — GWAS catalog 40205036
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (30)
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