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, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single... See more...

Aliases for UBA52 Gene

Aliases for UBA52 Gene

  • Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1 2 3 4 5
  • Ubiquitin Carboxyl Extension Protein 52 2 3
  • Ubiquitin-52 Amino Acid Fusion Protein 2 3
  • Ubiquitin-60S Ribosomal Protein L40 3 4
  • Ubiquitin-CEP52 2 3
  • CEP52 3 4
  • 60S Ribosomal Protein L40 2
  • Ribosomal Protein L40 2
  • HUBCEP52 3
  • UBCEP2 4
  • RPL40 3
  • L40 3

External Ids for UBA52 Gene

Previous GeneCards Identifiers for UBA52 Gene

  • GC19P019176
  • GC19P019074
  • GC19P018527
  • GC19P018545
  • GC19P018546
  • GC19P018548
  • GC19P018682
  • GC19P018245

Summaries for UBA52 Gene

Entrez Gene Summary for UBA52 Gene

  • 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, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. [provided by RefSeq, Jul 2008]

GeneCards Summary for UBA52 Gene

UBA52 (Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1) is a Protein Coding gene. Diseases associated with UBA52 include Stomatitis and Atrial Septal Defect 3. Among its related pathways are Regulation of degradation of deltaF508 CFTR in CF and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is RPS27A.

UniProtKB/Swiss-Prot Summary for UBA52 Gene

  • [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 residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.
  • [60S ribosomal protein L40]: Component of the 60S subunit of the ribosome. Ribosomal protein L40 is essential for translation of a subset of cellular transcripts, and especially for cap-dependent translation of vesicular stomatitis virus mRNAs.

Gene Wiki entry for UBA52 Gene

Additional gene information for UBA52 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBA52 Gene

Genomics for UBA52 Gene

GeneHancer (GH) Regulatory Elements for UBA52 Gene

Promoters and enhancers for UBA52 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J018570 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 515.6 +8.5 8543 3.2 FOXK2 HNRNPK ZBTB40 ZNF217 SIN3A NRF1 MYC USF1 POLR2G SP1 UBA52 piR-58000-001 ENSG00000268030 NR2C2AP UPF1 ENSG00000268938 TMEM161A RPL18A ENSG00000269191 MAU2
GH19J018561 Enhancer 0.3 ENCODE 500.7 -1.4 -1448 1.5 ZBTB33 POLR2A ENSG00000268030 UBA52 KXD1
GH19J018542 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 19.2 -20.5 -20476 3 HNRNPK CTCF SIN3A NRF1 SP1 GTF2E2 PHB2 FOS ZBTB11 TAF7 FKBP8 piR-47897 UBA52 SSBP4
GH19J018556 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 16 -5.5 -5535 3.4 HNRNPK ZBTB40 EP300 SIN3A NRF1 POLR2G SP1 PHF8 ZNF639 POLR2A KXD1 lnc-UBA52-1 UBA52 SUGP2 CRLF1 ENSG00000268030
GH19J018587 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.1 +25.7 25660 3.7 HNRNPK ZBTB40 ZNF217 EP300 CTCF NRF1 MYC POLR2G USF1 PHF8 REX1BD piR-57461-107 ENSG00000268030 UPF1 NR2C2AP ENSG00000268938 ENSG00000269191 MAU2 IQCN MEF2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBA52 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBA52

Top Transcription factor binding sites by QIAGEN in the UBA52 gene promoter:
  • AhR
  • Arnt
  • c-Ets-1
  • CUTL1
  • E47
  • HNF-4alpha1
  • HNF-4alpha2
  • Lmo2
  • MRF-2
  • Tal-1beta

Genomic Locations for UBA52 Gene

Genomic Locations for UBA52 Gene
chr19:18,563,766-18,577,550
(GRCh38/hg38)
Size:
13,785 bases
Orientation:
Plus strand
chr19:18,682,540-18,688,360
(GRCh37/hg19)
Size:
5,821 bases
Orientation:
Plus strand

Genomic View for UBA52 Gene

Genes around UBA52 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBA52 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBA52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA52 Gene

Proteins for UBA52 Gene

  • Protein details for UBA52 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62987-RL40_HUMAN
    Recommended name:
    Ubiquitin-60S ribosomal protein L40
    Protein Accession:
    P62987
    Secondary Accessions:
    • P02248
    • P02249
    • P02250
    • P14793
    • P62988
    • Q29120
    • Q6LBL4
    • Q6LDU5
    • Q8WYN8
    • Q91887
    • Q91888
    • Q9BWD6
    • Q9BX98
    • Q9UEF2
    • Q9UEG1
    • Q9UEK8
    • Q9UPK7

    Protein attributes for UBA52 Gene

    Size:
    128 amino acids
    Molecular mass:
    14728 Da
    Quaternary structure:
    • Ribosomal protein L40 is part of the 60S ribosomal subunit. Interacts with UBQLN1 (via UBA domain).
    Miscellaneous:
    • Ubiquitin is encoded by 4 different genes. UBA52 and RPS27A genes code for a single copy of ubiquitin fused to the ribosomal proteins L40 and S27a, respectively. UBB and UBC genes code for a polyubiquitin precursor with exact head to tail repeats, the number of repeats differ between species and strains.
    • For a better understanding, features related to ubiquitin are only indicated for the first chain.
    SequenceCaution:
    • Sequence=AAK31162.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UBA52 Gene

neXtProt entry for UBA52 Gene

Post-translational modifications for UBA52 Gene

  • [Ubiquitin]: Phosphorylated at Ser-65 by PINK1 during mitophagy. Phosphorylated ubiquitin specifically binds and activates parkin (PRKN), triggering mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Phosphorylation does not affect E1-mediated E2 charging of ubiquitin but affects discharging of E2 enzymes to form polyubiquitin chains. It also affects deubiquitination by deubiquitinase enzymes such as USP30 (PubMed:25527291).
  • [Ubiquitin]: Mono-ADP-ribosylated at the C-terminus by PARP9, a component of the PPAR9-DTX3L complex. ADP-ribosylation requires processing by E1 and E2 enzymes and prevents ubiquitin conjugation to substrates such as histones.
  • Ubiquitination at Lys6, Lys11, Lys27, Lys29, Lys48, Lys63, and Lys88
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBA52 Gene

Domains & Families for UBA52 Gene

Gene Families for UBA52 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Ribosomal proteins

Suggested Antigen Peptide Sequences for UBA52 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ95576, Homo sapiens ubiquitin A-52 residue ribosomal protein fusionproduct 1 (UBA52), mRNA (Q3MIH3_HUMAN)
  • Ubiquitin A-52 residue ribosomal protein fusion product 1 (RL40_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62987

UniProtKB/Swiss-Prot:

RL40_HUMAN :
  • In the N-terminal section; belongs to the ubiquitin family.
Family:
  • In the N-terminal section; belongs to the ubiquitin family.
  • In the C-terminal section; belongs to the eukaryotic ribosomal protein eL40 family.
genes like me logo Genes that share domains with UBA52: view

Function for UBA52 Gene

Molecular function for UBA52 Gene

UniProtKB/Swiss-Prot 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 residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.
UniProtKB/Swiss-Prot Function:
[60S ribosomal protein L40]: Component of the 60S subunit of the ribosome. Ribosomal protein L40 is essential for translation of a subset of cellular transcripts, and especially for cap-dependent translation of vesicular stomatitis virus mRNAs.
GENATLAS Biochemistry:
ubiquitin-ribosomal protein fusion

Phenotypes From GWAS Catalog for UBA52 Gene

Gene Ontology (GO) - Molecular Function for UBA52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IEA --
GO:0005515 protein binding IPI,IEA 15147878
GO:0031386 protein tag IBA 21873635
GO:0031625 ubiquitin protein ligase binding IBA 21873635
genes like me logo Genes that share ontologies with UBA52: view
genes like me logo Genes that share phenotypes with UBA52: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBA52

Clone Products

  • Addgene plasmids for UBA52

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBA52 Gene

Localization for UBA52 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBA52 Gene

[Ubiquitin]: Cytoplasm. Nucleus.
[60S ribosomal protein L40]: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBA52 gene
Compartment Confidence
cytosol 5
plasma membrane 4
mitochondrion 4
nucleus 4
endoplasmic reticulum 4
endosome 4
extracellular 2
cytoskeleton 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Endoplasmic reticulum (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBA52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 16502470
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005741 mitochondrial outer membrane TAS --
genes like me logo Genes that share ontologies with UBA52: view

Pathways & Interactions for UBA52 Gene

PathCards logo

SuperPathways for UBA52 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
.31
2 RET signaling
3 Activated TLR4 signalling
4 Viral mRNA Translation
.79
.55
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with UBA52: view

Pathways by source for UBA52 Gene

24 GeneGo (Thomson Reuters) pathways for UBA52 Gene
  • Cell cycle ESR1 regulation of G1/S transition
  • Cell cycle Regulation of G1/S transition (part 1)
  • Cell cycle Role of SCF complex in cell cycle regulation
  • Cell cycle Transition and termination of DNA replication
  • Cell cycle_Spindle assembly and chromosome separation
1 Qiagen pathway for UBA52 Gene
  • NF-KappaB (p50-p65) Pathway
1 Cell Signaling Technology pathway for UBA52 Gene

SIGNOR curated interactions for UBA52 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UBA52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS --
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000187 activation of MAPK activity TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
genes like me logo Genes that share ontologies with UBA52: view

Drugs & Compounds for UBA52 Gene

No Compound Related Data Available

Transcripts for UBA52 Gene

mRNA/cDNA for UBA52 Gene

8 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBA52

Clone Products

  • Addgene plasmids for UBA52

Alternative Splicing Database (ASD) splice patterns (SP) for UBA52 Gene

No ASD Table

Relevant External Links for UBA52 Gene

GeneLoc Exon Structure for
UBA52

Expression for UBA52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBA52 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UBA52 Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for UBA52 Gene

This gene is overexpressed in Tlymphocyte (9.5), Monocytes (7.3), and Cerebrospinal fluid (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBA52 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBA52

SOURCE GeneReport for Unigene cluster for UBA52 Gene:

Hs.5308

Evidence on tissue expression from TISSUES for UBA52 Gene

  • Blood(4.7)
  • Nervous system(4.6)
  • Adrenal gland(4.5)
  • Muscle(4.3)
  • Liver(4.2)
  • Lung(4.2)
  • Skin(4)
  • Intestine(3.9)
  • Stomach(3.3)
  • Kidney(3.2)
  • Heart(2.8)
  • Pancreas(2.8)
  • Spleen(2.8)
  • Bone marrow(2.6)
  • Lymph node(2.6)
  • Thyroid gland(2.6)
  • Gall bladder(2.4)
  • Bone(2.2)
  • Eye(2.1)