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Aliases for UBA52 Gene

Aliases for UBA52 Gene

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

External Ids for UBA52 Gene

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 apocrine adenoma. Among its related pathways are PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is UBB.

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

Genomic Location for UBA52 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UBA52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA52 Gene

Regulatory Elements 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.
    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

Proteomics data for UBA52 Gene at MOPED

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).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys11, Lys27, Lys29, Lys33, Lys48, Lys63, and Lys88

No data available for DME Specific Peptides for UBA52 Gene

Domains for UBA52 Gene

Gene Families for UBA52 Gene

HGNC:
  • RPL :L ribosomal proteins

Protein Domains for UBA52 Gene

UniProtKB/Swiss-Prot:

RL40_HUMAN
Domain:
  • Contains 1 ubiquitin-like domain.:
    • P62987
Family:
  • In the N-terminal section; belongs to the ubiquitin family.:
    • P62987
  • In the C-terminal section; belongs to the ribosomal protein L40e family.:
    • P62987
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 NAS 12962325
GO:0005515 protein binding IPI 15936278
genes like me logo Genes that share ontologies with UBA52: view
genes like me logo Genes that share phenotypes with UBA52: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for UBA52 Gene COMPARTMENTS Subcellular localization image for UBA52 gene
Compartment Confidence
cytosol 5
endosome 4
nucleus 4
extracellular 2

Gene Ontology (GO) - Cellular Components for UBA52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol TAS --
GO:0005840 ribosome IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with UBA52: view

Pathways for UBA52 Gene

SuperPathways for UBA52 Gene

Superpath Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
.38
2 Loss of Function of SMAD2/3 in Cancer
3 Influenza Viral RNA Transcription and Replication
4 Signaling by NOTCH1 PEST Domain Mutants in Cancer
5 Signaling by FGFR
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:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000122 negative regulation of transcription from RNA polymerase II promoter 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

Transcripts for UBA52 Gene

Unigene Clusters for UBA52 Gene

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

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 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 (6.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBA52 Gene

SOURCE GeneReport for Unigene cluster for UBA52 Gene Hs.5308

genes like me logo Genes that share expressions with UBA52: view

Orthologs for UBA52 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBA52 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBA52 36
  • 99.48 (n)
  • 100 (a)
UBA52 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBA52 36
  • 92.19 (n)
  • 100 (a)
UBA52 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBA52 36
  • 92.71 (n)
  • 100 (a)
UBA52 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm7866 36
  • 88.98 (n)
  • 96.77 (a)
Uba52 16
Uba52 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBA52 37
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBA52 37
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBA52 37
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33401 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6314 36
uba52 36
  • 86.98 (n)
  • 100 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.726 36
zebrafish
(Danio rerio)
Actinopterygii isg15 37
  • 24 (a)
ManyToMany
uba52 36
  • 85.42 (n)
  • 98.44 (a)
uba52 37
  • 98 (a)
ManyToMany
wufa91f08 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007927 36
  • 81.77 (n)
  • 97.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta RpL40 36
  • 84.9 (n)
  • 97.66 (a)
RpL40 37
  • 98 (a)
ManyToMany
Ubi-p63E 38
  • 100 (a)
worm
(Caenorhabditis elegans)
Secernentea ubq-2 36
  • 78.39 (n)
  • 92.97 (a)
ubq-2 37
  • 93 (a)
OneToOne
ubq-2 38
  • 92 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR285C 36
  • 75 (n)
  • 89.84 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL40A 36
  • 72.14 (n)
  • 89.84 (a)
RPL40A 37
  • 90 (a)
ManyToMany
RPL40B 37
  • 90 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00616g 36
  • 71.87 (n)
  • 89.06 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5102 36
corn
(Zea mays)
Liliopsida Zm.16530 36
rice
(Oryza sativa)
Liliopsida Os.12772 36
Os03g0259500 36
  • 77.33 (n)
  • 86.4 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28316 36
bread mold
(Neurospora crassa)
Ascomycetes NCU05275 36
  • 80.53 (n)
  • 90.4 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubi1 36
  • 78.12 (n)
  • 90.62 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15533 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 85 (a)
ManyToMany
Species with no ortholog for UBA52:
  • 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

Paralogs for UBA52 Gene

Selected SIMAP similar genes for UBA52 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with UBA52: view

Variants for UBA52 Gene

Sequence variations from dbSNP and Humsavar for UBA52 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs6554 -- 18,575,154(+) AAGGT(G/T)GTTCT utr-variant-3-prime
rs13884 -- 18,573,291(+) CGTGC(A/G/T)GACGC splice-acceptor-variant
rs1127189 -- 18,577,397(+) ccctt(C/T)tgggt utr-variant-3-prime
rs2283616 -- 18,571,685(+) CCACA(A/C)CCGGA upstream-variant-2KB, intron-variant
rs2302055 -- 18,573,753(+) GGTAC(C/T)GGGGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv911274 CNV Loss 21882294
nsv911281 CNV Loss 21882294
nsv911282 CNV Loss 21882294
nsv911283 CNV Loss 21882294
nsv833776 CNV Loss 17160897
nsv911284 CNV Loss 21882294
dgv3784n71 CNV Loss 21882294

Relevant External Links for UBA52 Gene

HapMap Linkage Disequilibrium report
UBA52

Disorders for UBA52 Gene

(1) MalaCards Diseases for UBA52 Gene

Search for UBA52 Gene in MalaCards »

(1) University of Copenhagen DISEASES for UBA52 Gene

genes like me logo Genes that share disorders with UBA52: view

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

Publications for UBA52 Gene

  1. The human ubiquitin-52 amino acid fusion protein gene shares several structural features with mammalian ribosomal protein genes. (PMID: 1850507) Baker R.T. … Board P.G. (Nucleic Acids Res. 1991) 3 4 23
  2. Localization of the human UBA52 ubiquitin fusion gene to chromosome band 19p13.1-p12. (PMID: 8188300) Webb G.C. … Board P.G. (Genomics 1994) 2 3 23
  3. Chemically synthesized ubiquitin extension proteins detect distinct catalytic capacities of deubiquitinating enzymes. (PMID: 10527495) Layfield R. … Mayer R.J. (Anal. Biochem. 1999) 3 23
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4
  5. cDNA encoding a human homolog of yeast ubiquitin 1. (PMID: 3037496) Salvesen G. … Farley D. (Nucleic Acids Res. 1987) 3 4

Products for UBA52 Gene

Sources for UBA52 Gene

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