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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 RET signaling and Negative regulation of FGFR3 signaling. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is ZFAND4.

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

Additional gene information for UBA52 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH19I018570 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 565.6 +8.5 8543 3.2 PKNOX1 CLOCK SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 UBA52 ENSG00000268030 UPF1 ENSG00000268938 ELL MAU2 ENSG00000269191 KXD1 NR2C2AP IQCN
GH19I018561 Enhancer 0.3 ENCODE 550.8 -1.4 -1448 1.5 ZBTB33 ENSG00000268030 UBA52 KXD1
GH19I018587 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.9 +25.7 25674 3.6 CLOCK MLX DMAP1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SSRP1 ZNF610 REX1BD ENSG00000268030 UPF1 ENSG00000268938 NR2C2AP ENSG00000269191 MAU2 IQCN MEF2B ELL
GH19I018542 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 19.2 -20.5 -20500 3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A POLR2B ZNF766 E2F8 ZNF207 PIR40896 FKBP8 UBA52 IQCN UPF1 ELL SSBP4
GH19I018603 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 18.7 +44.9 44948 11.1 ATF1 FOXA2 ARID4B DMAP1 ZNF2 ZNF48 ETS1 GLIS2 ATF7 KLF13 CRLF1 TMEM59L GC19P020238 UBA52 REX1BD KLHL26 SSBP4 KXD1 CRTC1 GDF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UBA52 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UBA52 gene promoter:

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)

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 (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).
  • Ubiquitination at isoforms=11, isoforms=27, isoforms=29, isoforms=33, and isoforms=163

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

Protein Domains for UBA52 Gene

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

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.

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 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

CRISPR Products

Inhibitory RNA 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
cytoskeleton 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 IDA,HDA 16502470
GO:0005634 nucleus HDA,IEA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005741 mitochondrial outer membrane TAS --
genes like me logo Genes that share ontologies with UBA52: view

Pathways & Interactions for UBA52 Gene

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
.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 by RNA polymerase II 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

Drugs & Compounds for UBA52 Gene

No Compound Related Data Available

Transcripts for UBA52 Gene

Unigene Clusters for UBA52 Gene

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

CRISPR Products

Inhibitory RNA 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 CGAP 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

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)
  • Kidney(3.2)
  • Stomach(3.1)
  • Heart(2.8)
  • Pancreas(2.8)
  • Spleen(2.7)
  • Bone marrow(2.6)
  • Lymph node(2.6)
  • Thyroid gland(2.6)
  • Gall bladder(2.4)
  • Bone(2.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with UBA52: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uba52 34
  • 100 (a)
OneToOne
Gm7866 33
  • 88.98 (n)
Uba52-ps 16
platypus
(Ornithorhynchus anatinus)
Mammalia UBA52 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBA52 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia UBA52 33 34
  • 92.71 (n)
cow
(Bos Taurus)
Mammalia UBA52 33 34
  • 92.19 (n)
lizard
(Anolis carolinensis)
Reptilia UBA52 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uba52 33
  • 86.98 (n)
Str.6314 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33401 33
zebrafish
(Danio rerio)
Actinopterygii uba52 33 34
  • 85.42 (n)
isg15 34
  • 24 (a)
ManyToMany
wufa91f08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.726 33
fruit fly
(Drosophila melanogaster)
Insecta Ubi-p63E 35
  • 100 (a)
RpL40 33 34
  • 84.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007927 33
  • 81.77 (n)
worm
(Caenorhabditis elegans)
Secernentea ubq-2 35 33 34
  • 78.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL40B 34
  • 90 (a)
ManyToMany
RPL40A 33 34
  • 72.14 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR285C 33
  • 75 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00616g 33
  • 71.87 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5102 33
rice
(Oryza sativa)
Liliopsida Os03g0259500 33
  • 77.33 (n)
Os.12772 33
wheat
(Triticum aestivum)
Liliopsida Ta.28316 33
corn
(Zea mays)
Liliopsida Zm.16530 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 85 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU05275 33
  • 80.53 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubi1 33
  • 78.12 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15533 33
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

Variants for UBA52 Gene

Sequence variations from dbSNP and Humsavar for UBA52 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000106213 -- 18,573,550(+) C/G intron_variant
rs1000129444 -- 18,577,183(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000322249 -- 18,575,766(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000428428 -- 18,563,628(+) C/G upstream_transcript_variant
rs1000520443 -- 18,567,483(+) T/C genic_upstream_transcript_variant, intron_variant

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)

Additional Variant Information 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

Additional Disease Information for 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

  1. Localization of the human UBA52 ubiquitin fusion gene to chromosome band 19p13.1-p12. (PMID: 8188300) Webb GC … Board PG (Genomics 1994) 2 3 22 58
  2. The human ubiquitin-52 amino acid fusion protein gene shares several structural features with mammalian ribosomal protein genes. (PMID: 1850507) Baker RT … Board PG (Nucleic acids research 1991) 3 4 22 58
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58
  4. Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin-associated and ubiquitin-like domains. (PMID: 15147878) Ko HS … Nomura Y (FEBS letters 2004) 3 4 58
  5. Chemically synthesized ubiquitin extension proteins detect distinct catalytic capacities of deubiquitinating enzymes. (PMID: 10527495) Layfield R … Mayer RJ (Analytical biochemistry 1999) 3 22 58

Products for UBA52 Gene