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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-CEP52 2 3
  • CEP52 3 4
  • Ubiquitin-60S Ribosomal Protein L40 3
  • 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. Among its related pathways are Interferon gamma signaling and Activated TLR4 signalling. GO annotations related to this gene include structural constituent of ribosome.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBA52 Gene

Genomics for UBA52 Gene

Regulatory Elements for UBA52 Gene

Enhancers for UBA52 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F018472 1.8 FANTOM5 Ensembl ENCODE 12.4 -82.4 -82378 16.8 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC KXD1 IFI30 ENSG00000268030 SSBP4 ELL ENSG00000268938 UBA52 UPF1 CRTC1 C19orf60
GH19F018492 1.7 FANTOM5 Ensembl ENCODE 12.4 -62.4 -62366 18.8 MLX ARID4B DMAP1 ZNF2 YY1 ZNF143 ZNF263 SP3 SP5 NFYC ELL SSBP4 FKBP8 UBA52 CRTC1 KXD1 C19orf60 ARRDC2 JUND IL12RB1
GH19F018542 1.1 ENCODE 19.1 -20.5 -20501 3.0 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 SIN3A ARID4B YBX1 ZNF143 ZNF207 UBA52 SSBP4 FKBP8 PIR40896
GH19F018570 1.2 ENCODE 15.6 +8.5 8544 3.2 PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 UBA52 KXD1 ENSG00000268983 C19orf60
GH19F018556 1.1 ENCODE 16 -5.5 -5536 3.4 PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS SP3 UPF1 ENSG00000268030 UBA52 ENSG00000269191 KXD1 ENSG00000268938 CRLF1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBA52 on UCSC Golden Path with GeneCards custom track

Genomic Location for UBA52 Gene

Chromosome:
19
Start:
18,563,766 bp from pter
End:
18,577,550 bp from pter
Size:
13,785 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:
    • For a better understanding, features related to ubiquitin are only indicated for the first chain.
    • 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.
    SequenceCaution:
    • Sequence=AAK31162.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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 (PARK2), 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).
  • Ubiquitination at Lys 11, Lys 27, Lys 29, Lys 33, and Lys 63
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBA52 Gene

Domains & Families for UBA52 Gene

Gene Families for UBA52 Gene

Protein Domains for UBA52 Gene

Graphical View of Domain Structure for InterPro Entry

P62987

UniProtKB/Swiss-Prot:

RL40_HUMAN :
  • Contains 1 ubiquitin-like domain.
  • In the N-terminal section; belongs to the ubiquitin family.
Domain:
  • Contains 1 ubiquitin-like domain.
Family:
  • In the N-terminal section; belongs to the ubiquitin family.
  • In the C-terminal section; belongs to the ribosomal protein L40e family.
genes like me logo Genes that share domains with UBA52: view

Function for UBA52 Gene

Molecular function for UBA52 Gene

GENATLAS Biochemistry:
ubiquitin-ribosomal protein fusion
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.

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 15147878
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UBA52

Flow Cytometry Products

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
extracellular 5
mitochondrion 5
nucleus 5
cytosol 5
lysosome 5
plasma membrane 4
endoplasmic reticulum 4
endosome 4

Gene Ontology (GO) - Cellular Components for UBA52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005634 nucleus IEA,IDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane IDA 17897319
genes like me logo Genes that share ontologies with UBA52: view

Pathways & Interactions for UBA52 Gene

SuperPathways for UBA52 Gene

SuperPathway Contained pathways
1 Regulation of activated PAK-2p34 by proteasome mediated degradation
.78
.32
2 RET signaling
3 Activated TLR4 signalling
4 Viral mRNA Translation
.55
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with UBA52: view

Gene Ontology (GO) - Biological Process for UBA52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS --
GO:0000165 MAPK cascade TAS --
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000187 activation of MAPK activity TAS --
genes like me logo Genes that share ontologies with UBA52: view

No data available for SIGNOR curated interactions for UBA52 Gene

Transcripts for UBA52 Gene

Unigene Clusters for UBA52 Gene

Ubiquitin A-52 residue ribosomal protein fusion product 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UBA52

Flow Cytometry Products

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

No ASD Table

Relevant External Links for UBA52 Gene

GeneLoc Exon Structure for
UBA52
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for UBA52 Gene



NURSA nuclear receptor signaling pathways regulating expression of UBA52 Gene:

UBA52

SOURCE GeneReport for Unigene cluster for UBA52 Gene:

Hs.5308
genes like me logo Genes that share expression patterns with UBA52: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for UBA52 Gene

Orthologs for UBA52 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBA52 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia UBA52 35
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uba52 35
  • 100 (a)
OneToOne
Gm7866 34 16
  • 88.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UBA52 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBA52 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia UBA52 34 35
  • 92.71 (n)
cow
(Bos Taurus)
Mammalia UBA52 34 35
  • 92.19 (n)
lizard
(Anolis carolinensis)
Reptilia UBA52 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uba52 34
  • 86.98 (n)
Str.6314 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33401 34
zebrafish
(Danio rerio)
Actinopterygii uba52 34 35
  • 85.42 (n)
isg15 35
  • 24 (a)
ManyToMany
wufa91f08 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.726 34
fruit fly
(Drosophila melanogaster)
Insecta Ubi-p63E 36
  • 100 (a)
RpL40 34 35
  • 84.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007927 34
  • 81.77 (n)
worm
(Caenorhabditis elegans)
Secernentea ubq-2 36 34 35
  • 78.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL40B 35
  • 90 (a)
ManyToMany
RPL40A 34 35
  • 72.14 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR285C 34
  • 75 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00616g 34
  • 71.87 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5102 34
rice
(Oryza sativa)
Liliopsida Os03g0259500 34
  • 77.33 (n)
Os.12772 34
wheat
(Triticum aestivum)
Liliopsida Ta.28316 34
corn
(Zea mays)
Liliopsida Zm.16530 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 85 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU05275 34
  • 80.53 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubi1 34
  • 78.12 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15533 34
Species where no ortholog for UBA52 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UBA52 Gene

ENSEMBL:
Gene Tree for UBA52 (if available)
TreeFam:
Gene Tree for UBA52 (if available)

Paralogs for UBA52 Gene

No data available for Paralogs for UBA52 Gene

Variants for UBA52 Gene

Sequence variations from dbSNP and Humsavar for UBA52 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10405975 -- 18,569,944(+) cagaa(C/T)tgctt intron-variant, upstream-variant-2KB
rs10410234 -- 18,574,846(+) GTCGC(C/T)GTCCT intron-variant
rs10412458 -- 18,577,039(+) ttgca(C/G)tgggt utr-variant-3-prime
rs10412696 -- 18,577,187(+) GTTGG(C/T)GGGAC utr-variant-3-prime
rs10418475 -- 18,577,465(+) actct(A/C)ctggt downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for UBA52 Gene

Variant ID Type Subtype PubMed ID
nsv833776 CNV loss 17160897

Variation tolerance for UBA52 Gene

Residual Variation Intolerance Score: 45.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBA52 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBA52

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBA52 Gene

Disorders for UBA52 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UBA52 Gene - From: GeneCards

Disorder Aliases PubMed IDs
stomatitis
- elite association - COSMIC cancer census association via MalaCards
Search UBA52 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBA52

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBA52
genes like me logo Genes that share disorders with UBA52: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBA52 Gene

Publications for UBA52 Gene