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UBA52 (ubiquitin A-52 residue ribosomal protein fusion product 1)

Identity

Alias_symbol (synonym)RPL40
CEP52
HUBCEP52
MGC57125
MGC126879
MGC126881
L40
Other alias
HGNC (Hugo) UBA52
LocusID (NCBI) 7311
Atlas_Id 51798
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 18571802 and ends at 18577460 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PODXL (7q32.3) / UBA52 (19p13.11)PSMA7 (20q13.33) / UBA52 (19p13.11)RAPGEF5 (7p15.3) / UBA52 (19p13.11)
UBA52 (19p13.11) / ACTG1 (17q25.3)UBA52 (19p13.11) / CSH1 (17q23.3)UBA52 (19p13.11) / DZIP1L (3q22.3)
UBA52 (19p13.11) / LOC100129620 (1p21.3)UBA52 (19p13.11) / NDE1 (16p13.11)UBA52 (19p13.11) / SMARCC1 (3p21.31)
UBA52 (19p13.11) / SPTAN1 (9q34.11)UBA52 (19p13.11) / SUGP2 (19p13.11)UBA52 (19p13.11) / TM4SF1 (3q25.1)
UBA52 (19p13.11) / UBA52 (19p13.11)UBA52 (19p13.11) / UBC (12q24.31)UBA52 (19p13.11) / VPS28 (8q24.3)
UBC (12q24.31) / UBA52 (19p13.11)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)UBA52   12458
Cards
Entrez_Gene (NCBI)UBA52  7311  ubiquitin A-52 residue ribosomal protein fusion product 1
AliasesCEP52; HUBCEP52; L40; RPL40
GeneCards (Weizmann)UBA52
Ensembl hg19 (Hinxton)ENSG00000221983 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000221983 [Gene_View]  chr19:18571802-18577460 [Contig_View]  UBA52 [Vega]
ICGC DataPortalENSG00000221983
TCGA cBioPortalUBA52
AceView (NCBI)UBA52
Genatlas (Paris)UBA52
WikiGenes7311
SOURCE (Princeton)UBA52
Genetics Home Reference (NIH)UBA52
Genomic and cartography
GoldenPath hg38 (UCSC)UBA52  -     chr19:18571802-18577460 +  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBA52  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblUBA52 - 19p13.11 [CytoView hg19]  UBA52 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIUBA52 [Mapview hg19]  UBA52 [Mapview hg38]
OMIM191321   
Gene and transcription
Genbank (Entrez)AF348700 AF545864 AK057790 AK314717 AV707734
RefSeq transcript (Entrez)NM_001033930 NM_001321017 NM_001321018 NM_001321019 NM_001321020 NM_001321021 NM_001321022 NM_003333
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBA52
Cluster EST : UnigeneHs.5308 [ NCBI ]
CGAP (NCI)Hs.5308
Alternative Splicing GalleryENSG00000221983
Gene ExpressionUBA52 [ NCBI-GEO ]   UBA52 [ EBI - ARRAY_EXPRESS ]   UBA52 [ SEEK ]   UBA52 [ MEM ]
Gene Expression Viewer (FireBrowse)UBA52 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7311
GTEX Portal (Tissue expression)UBA52
Protein : pattern, domain, 3D structure
UniProt/SwissProtP62987   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP62987  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP62987
Splice isoforms : SwissVarP62987
PhosPhoSitePlusP62987
Domaine pattern : Prosite (Expaxy)UBIQUITIN_1 (PS00299)    UBIQUITIN_2 (PS50053)   
Domains : Interpro (EBI)Ribosomal_L40e    Ubiquitin    Ubiquitin-rel_dom    Ubiquitin_CS    Ubiquitin_dom   
Domain families : Pfam (Sanger)Ribosomal_L40e (PF01020)    ubiquitin (PF00240)   
Domain families : Pfam (NCBI)pfam01020    pfam00240   
Domain families : Smart (EMBL)Ribosomal_L40e (SM01377)  UBQ (SM00213)  
Conserved Domain (NCBI)UBA52
DMDM Disease mutations7311
Blocks (Seattle)UBA52
PDB (SRS)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    5T2C   
PDB (PDBSum)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    5T2C   
PDB (IMB)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    5T2C   
PDB (RSDB)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    5T2C   
Structural Biology KnowledgeBase2LJ5    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    5T2C   
SCOP (Structural Classification of Proteins)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    5T2C   
CATH (Classification of proteins structures)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    5T2C   
SuperfamilyP62987
Human Protein AtlasENSG00000221983
Peptide AtlasP62987
HPRD08931
IPIIPI00456429   IPI00385127   
Protein Interaction databases
DIP (DOE-UCLA)P62987
IntAct (EBI)P62987
FunCoupENSG00000221983
BioGRIDUBA52
STRING (EMBL)UBA52
ZODIACUBA52
Ontologies - Pathways
QuickGOP62987
Ontology : AmiGOG2/M transition of mitotic cell cycle  negative regulation of transcription from RNA polymerase II promoter  MAPK cascade  nuclear-transcribed mRNA catabolic process, nonsense-mediated decay  activation of MAPK activity  protein polyubiquitination  nucleotide-excision repair, DNA damage recognition  nucleotide-excision repair, DNA duplex unwinding  stimulatory C-type lectin receptor signaling pathway  MyD88-dependent toll-like receptor signaling pathway  MyD88-independent toll-like receptor signaling pathway  structural constituent of ribosome  protein binding  extracellular space  nucleus  nucleoplasm  nucleoplasm  mitochondrial outer membrane  lysosomal membrane  endoplasmic reticulum  cytosol  cytosol  plasma membrane  plasma membrane  glycogen biosynthetic process  transcription-coupled nucleotide-excision repair  nucleotide-excision repair, preincision complex assembly  nucleotide-excision repair, DNA incision, 5'-to lesion  nucleotide-excision repair, DNA gap filling  rRNA processing  translational initiation  protein folding  cellular protein modification process  SRP-dependent cotranslational protein targeting to membrane  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  transforming growth factor beta receptor signaling pathway  Notch signaling pathway  I-kappaB kinase/NF-kappaB signaling  JNK cascade  fibroblast growth factor receptor signaling pathway  endosome membrane  regulation of tumor necrosis factor-mediated signaling pathway  negative regulation of G2/M transition of mitotic cell cycle  Wnt signaling pathway  endosomal transport  macroautophagy  protein ubiquitination  protein deubiquitination  response to insecticide  viral life cycle  virion assembly  viral transcription  translesion synthesis  cytosolic large ribosomal subunit  negative regulation of transforming growth factor beta receptor signaling pathway  endocytic vesicle membrane  anaphase-promoting complex-dependent catabolic process  SCF-dependent proteasomal ubiquitin-dependent protein catabolic process  vesicle  regulation of type I interferon production  negative regulation of type I interferon production  tumor necrosis factor-mediated signaling pathway  nucleotide-excision repair, DNA incision  ion transmembrane transport  entry of bacterium into host cell  TRIF-dependent toll-like receptor signaling pathway  interstrand cross-link repair  NIK/NF-kappaB signaling  Fc-epsilon receptor signaling pathway  ERBB2 signaling pathway  negative regulation of epidermal growth factor receptor signaling pathway  error-prone translesion synthesis  DNA damage response, detection of DNA damage  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  positive regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  proteasome-mediated ubiquitin-dependent protein catabolic process  regulation of mRNA stability  cellular protein metabolic process  endoplasmic reticulum quality control compartment  innate immune response  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of transcription from RNA polymerase II promoter  T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  stress-activated MAPK cascade  negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle  positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition  transmembrane transport  Wnt signaling pathway, planar cell polarity pathway  regulation of necroptotic process  membrane organization  regulation of transcription from RNA polymerase II promoter in response to hypoxia  extracellular exosome  nucleotide-binding oligomerization domain containing signaling pathway  global genome nucleotide-excision repair  error-free translesion synthesis  intracellular transport of virus  negative regulation of canonical Wnt signaling pathway  positive regulation of canonical Wnt signaling pathway  regulation of signal transduction by p53 class mediator  endoplasmic reticulum mannose trimming  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  negative regulation of transcription from RNA polymerase II promoter  MAPK cascade  nuclear-transcribed mRNA catabolic process, nonsense-mediated decay  activation of MAPK activity  protein polyubiquitination  nucleotide-excision repair, DNA damage recognition  nucleotide-excision repair, DNA duplex unwinding  stimulatory C-type lectin receptor signaling pathway  MyD88-dependent toll-like receptor signaling pathway  MyD88-independent toll-like receptor signaling pathway  structural constituent of ribosome  protein binding  extracellular space  nucleus  nucleoplasm  nucleoplasm  mitochondrial outer membrane  lysosomal membrane  endoplasmic reticulum  cytosol  cytosol  plasma membrane  plasma membrane  glycogen biosynthetic process  transcription-coupled nucleotide-excision repair  nucleotide-excision repair, preincision complex assembly  nucleotide-excision repair, DNA incision, 5'-to lesion  nucleotide-excision repair, DNA gap filling  rRNA processing  translational initiation  protein folding  cellular protein modification process  SRP-dependent cotranslational protein targeting to membrane  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  transforming growth factor beta receptor signaling pathway  Notch signaling pathway  I-kappaB kinase/NF-kappaB signaling  JNK cascade  fibroblast growth factor receptor signaling pathway  endosome membrane  regulation of tumor necrosis factor-mediated signaling pathway  negative regulation of G2/M transition of mitotic cell cycle  Wnt signaling pathway  endosomal transport  macroautophagy  protein ubiquitination  protein deubiquitination  response to insecticide  viral life cycle  virion assembly  viral transcription  translesion synthesis  cytosolic large ribosomal subunit  negative regulation of transforming growth factor beta receptor signaling pathway  endocytic vesicle membrane  anaphase-promoting complex-dependent catabolic process  SCF-dependent proteasomal ubiquitin-dependent protein catabolic process  vesicle  regulation of type I interferon production  negative regulation of type I interferon production  tumor necrosis factor-mediated signaling pathway  nucleotide-excision repair, DNA incision  ion transmembrane transport  entry of bacterium into host cell  TRIF-dependent toll-like receptor signaling pathway  interstrand cross-link repair  NIK/NF-kappaB signaling  Fc-epsilon receptor signaling pathway  ERBB2 signaling pathway  negative regulation of epidermal growth factor receptor signaling pathway  error-prone translesion synthesis  DNA damage response, detection of DNA damage  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  positive regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  proteasome-mediated ubiquitin-dependent protein catabolic process  regulation of mRNA stability  cellular protein metabolic process  endoplasmic reticulum quality control compartment  innate immune response  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of transcription from RNA polymerase II promoter  T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  stress-activated MAPK cascade  negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle  positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition  transmembrane transport  Wnt signaling pathway, planar cell polarity pathway  regulation of necroptotic process  membrane organization  regulation of transcription from RNA polymerase II promoter in response to hypoxia  extracellular exosome  nucleotide-binding oligomerization domain containing signaling pathway  global genome nucleotide-excision repair  error-free translesion synthesis  intracellular transport of virus  negative regulation of canonical Wnt signaling pathway  positive regulation of canonical Wnt signaling pathway  regulation of signal transduction by p53 class mediator  endoplasmic reticulum mannose trimming  
Pathways : KEGGRibosome   
NDEx NetworkUBA52
Atlas of Cancer Signalling NetworkUBA52
Wikipedia pathwaysUBA52
Orthology - Evolution
OrthoDB7311
GeneTree (enSembl)ENSG00000221983
Phylogenetic Trees/Animal Genes : TreeFamUBA52
HOVERGENP62987
HOGENOMP62987
Homologs : HomoloGeneUBA52
Homology/Alignments : Family Browser (UCSC)UBA52
Gene fusions - Rearrangements
Fusion Cancer (Beijing)UBC [12q24.31]  -  UBA52 [19p13.11]  [FUSC001331]  [FUSC001331]  [FUSC001331]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBA52 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBA52
dbVarUBA52
ClinVarUBA52
1000_GenomesUBA52 
Exome Variant ServerUBA52
ExAC (Exome Aggregation Consortium)UBA52 (select the gene name)
Genetic variants : HAPMAP7311
Genomic Variants (DGV)UBA52 [DGVbeta]
DECIPHERUBA52 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBA52 
Mutations
ICGC Data PortalUBA52 
TCGA Data PortalUBA52 
Broad Tumor PortalUBA52
OASIS PortalUBA52 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBA52  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUBA52
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch UBA52
DgiDB (Drug Gene Interaction Database)UBA52
DoCM (Curated mutations)UBA52 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBA52 (select a term)
intoGenUBA52
Cancer3DUBA52(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191321   
Orphanet
MedgenUBA52
Genetic Testing Registry UBA52
NextProtP62987 [Medical]
TSGene7311
GENETestsUBA52
Target ValidationUBA52
Huge Navigator UBA52 [HugePedia]
snp3D : Map Gene to Disease7311
BioCentury BCIQUBA52
ClinGenUBA52
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7311
Chemical/Pharm GKB GenePA37108
Clinical trialUBA52
Miscellaneous
canSAR (ICR)UBA52 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBA52
EVEXUBA52
GoPubMedUBA52
iHOPUBA52
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 13:01:31 CEST 2017

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