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UBR5 (ubiquitin protein ligase E3 component n-recognin 5)

Identity

Alias_namesEDD1
E3 ubiquitin protein ligase, HECT domain containing, 1
Alias_symbol (synonym)DD5
HYD
EDD
KIAA0896
Other alias
HGNC (Hugo) UBR5
LocusID (NCBI) 51366
Atlas_Id 40276
Location 8q22.3  [Link to chromosome band 8q22]
Location_base_pair Starts at 102252274 and ends at 102412689 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ALKBH5 (17p11.2) / UBR5 (8q22.3)BAALC (8q22.3) / UBR5 (8q22.3)RPL37 (5p13.1) / UBR5 (8q22.3)
TTC3 (21q22.13) / UBR5 (8q22.3)UBR5 (8q22.3) / AC010859.1 ()UBR5 (8q22.3) / ALKBH5 (17p11.2)
UBR5 (8q22.3) / BAZ2A (12q13.3)UBR5 (8q22.3) / KMT2C (7q36.1)UBR5 (8q22.3) / RIMS4 (20q13.12)
UBR5 (8q22.3) / SLC25A32 (8q22.3)UBR5 (8q22.3) / SSTR5 (16p13.3)UBR5 (8q22.3) / UBR5 (8q22.3)
UBR5 (8q22.3) / ZNF423 (16q12.1)BAALC 8q22.3 / UBR5 8q22.3UBR5 8q22.3 AC010859.1
UBR5 8q22.3 / RIMS4 20q13.12UBR5 8q22.3 / SSTR5 16p13.3

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  BAALC/UBR5 (8q22)
UBR5/SLC25A32 (8q22)
t(8;16)(q22;p13) UBR5/SSTR5
t(8;16)(q22;q12) UBR5/ZNF423
t(8;16)(q22;q12) UBR5/ZNF423
t(8;20)(q22;q13) UBR5/RIMS4

External links

Nomenclature
HGNC (Hugo)UBR5   16806
Cards
Entrez_Gene (NCBI)UBR5  51366  ubiquitin protein ligase E3 component n-recognin 5
AliasesDD5; EDD; EDD1; HYD
GeneCards (Weizmann)UBR5
Ensembl hg19 (Hinxton)ENSG00000104517 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104517 [Gene_View]  ENSG00000104517 [Sequence]  chr8:102252274-102412689 [Contig_View]  UBR5 [Vega]
ICGC DataPortalENSG00000104517
TCGA cBioPortalUBR5
AceView (NCBI)UBR5
Genatlas (Paris)UBR5
WikiGenes51366
SOURCE (Princeton)UBR5
Genetics Home Reference (NIH)UBR5
Genomic and cartography
GoldenPath hg38 (UCSC)UBR5  -     chr8:102252274-102412689 -  8q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBR5  -     8q22.3   [Description]    (hg19-Feb_2009)
GoldenPathUBR5 - 8q22.3 [CytoView hg19]  UBR5 - 8q22.3 [CytoView hg38]
ImmunoBaseENSG00000104517
Mapping of homologs : NCBIUBR5 [Mapview hg19]  UBR5 [Mapview hg38]
OMIM608413   
Gene and transcription
Genbank (Entrez)AB020703 AF006010 AK002172 AK124995 AL833555
RefSeq transcript (Entrez)NM_001282873 NM_015902
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBR5
Cluster EST : UnigeneHs.492445 [ NCBI ]
CGAP (NCI)Hs.492445
Alternative Splicing GalleryENSG00000104517
Gene ExpressionUBR5 [ NCBI-GEO ]   UBR5 [ EBI - ARRAY_EXPRESS ]   UBR5 [ SEEK ]   UBR5 [ MEM ]
Gene Expression Viewer (FireBrowse)UBR5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51366
GTEX Portal (Tissue expression)UBR5
Human Protein AtlasENSG00000104517-UBR5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95071   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95071  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95071
Splice isoforms : SwissVarO95071
PhosPhoSitePlusO95071
Domaine pattern : Prosite (Expaxy)HECT (PS50237)    PABC (PS51309)    ZF_UBR (PS51157)   
Domains : Interpro (EBI)E3_UbLigase_EDD_UBA    HECT_dom    Hect_E3_ubiquitin_ligase    PABP-dom    PABP_HYD    RCC1/BLIP-II    Znf_UBR   
Domain families : Pfam (Sanger)E3_UbLigase_EDD (PF11547)    HECT (PF00632)    PABP (PF00658)   
Domain families : Pfam (NCBI)pfam11547    pfam00632    pfam00658   
Domain families : Smart (EMBL)HECTc (SM00119)  PolyA (SM00517)  ZnF_UBR1 (SM00396)  
Conserved Domain (NCBI)UBR5
DMDM Disease mutations51366
Blocks (Seattle)UBR5
PDB (RSDB)1I2T    2QHO    3PT3   
PDB Europe1I2T    2QHO    3PT3   
PDB (PDBSum)1I2T    2QHO    3PT3   
PDB (IMB)1I2T    2QHO    3PT3   
Structural Biology KnowledgeBase1I2T    2QHO    3PT3   
SCOP (Structural Classification of Proteins)1I2T    2QHO    3PT3   
CATH (Classification of proteins structures)1I2T    2QHO    3PT3   
SuperfamilyO95071
Human Protein Atlas [tissue]ENSG00000104517-UBR5 [tissue]
Peptide AtlasO95071
HPRD06436
IPIIPI00026320   IPI00976576   IPI00977666   IPI00983716   IPI00984441   IPI00976671   IPI00977233   
Protein Interaction databases
DIP (DOE-UCLA)O95071
IntAct (EBI)O95071
FunCoupENSG00000104517
BioGRIDUBR5
STRING (EMBL)UBR5
ZODIACUBR5
Ontologies - Pathways
QuickGOO95071
Ontology : AmiGOprotein polyubiquitination  protein polyubiquitination  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  cytosol  DNA repair  cellular response to DNA damage stimulus  cellular response to DNA damage stimulus  cellular response to DNA damage stimulus  zinc ion binding  positive regulation of gene expression  membrane  viral process  protein-containing complex  ubiquitin-ubiquitin ligase activity  positive regulation of protein import into nucleus  ubiquitin binding  perinuclear region of cytoplasm  progesterone receptor signaling pathway  ubiquitin protein ligase activity  protein K48-linked ubiquitination  positive regulation of canonical Wnt signaling pathway  negative regulation of histone H2A K63-linked ubiquitination  negative regulation of histone H2A K63-linked ubiquitination  negative regulation of double-strand break repair  
Ontology : EGO-EBIprotein polyubiquitination  protein polyubiquitination  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  cytosol  DNA repair  cellular response to DNA damage stimulus  cellular response to DNA damage stimulus  cellular response to DNA damage stimulus  zinc ion binding  positive regulation of gene expression  membrane  viral process  protein-containing complex  ubiquitin-ubiquitin ligase activity  positive regulation of protein import into nucleus  ubiquitin binding  perinuclear region of cytoplasm  progesterone receptor signaling pathway  ubiquitin protein ligase activity  protein K48-linked ubiquitination  positive regulation of canonical Wnt signaling pathway  negative regulation of histone H2A K63-linked ubiquitination  negative regulation of histone H2A K63-linked ubiquitination  negative regulation of double-strand break repair  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkUBR5
Atlas of Cancer Signalling NetworkUBR5
Wikipedia pathwaysUBR5
Orthology - Evolution
OrthoDB51366
GeneTree (enSembl)ENSG00000104517
Phylogenetic Trees/Animal Genes : TreeFamUBR5
HOGENOMO95071
Homologs : HomoloGeneUBR5
Homology/Alignments : Family Browser (UCSC)UBR5
Gene fusions - Rearrangements
Fusion : MitelmanBAALC/UBR5 [8q22.3/8q22.3]  [t(8;8)(q22;q22)]  
Fusion : MitelmanUBR5/RIMS4 [8q22.3/20q13.12]  [t(8;20)(q22;q13)]  
Fusion : MitelmanUBR5/SLC25A32 [8q22.3/8q22.3]  [t(8;8)(q22;q22)]  
Fusion : MitelmanUBR5/SSTR5 [8q22.3/16p13.3]  [t(8;16)(q22;p13)]  
Fusion : MitelmanUBR5/ZNF423 [8q22.3/16q12.1]  [t(8;16)(q22;q12)]  
Fusion PortalBAALC 8q22.3 UBR5 8q22.3 SKCM
Fusion PortalUBR5 8q22.3 AC010859.1 BRCA
Fusion PortalUBR5 8q22.3 RIMS4 20q13.12 SKCM
Fusion PortalUBR5 8q22.3 SSTR5 16p13.3 BRCA
Fusion : QuiverUBR5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBR5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBR5
dbVarUBR5
ClinVarUBR5
1000_GenomesUBR5 
Exome Variant ServerUBR5
ExAC (Exome Aggregation Consortium)ENSG00000104517
GNOMAD BrowserENSG00000104517
Varsome BrowserUBR5
Genetic variants : HAPMAP51366
Genomic Variants (DGV)UBR5 [DGVbeta]
DECIPHERUBR5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBR5 
Mutations
ICGC Data PortalUBR5 
TCGA Data PortalUBR5 
Broad Tumor PortalUBR5
OASIS PortalUBR5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBR5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUBR5
Mutations and Diseases : HGMDUBR5
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 UBR5
DgiDB (Drug Gene Interaction Database)UBR5
DoCM (Curated mutations)UBR5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBR5 (select a term)
intoGenUBR5
Cancer3DUBR5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608413   
Orphanet
DisGeNETUBR5
MedgenUBR5
Genetic Testing Registry UBR5
NextProtO95071 [Medical]
TSGene51366
GENETestsUBR5
Target ValidationUBR5
Huge Navigator UBR5 [HugePedia]
snp3D : Map Gene to Disease51366
BioCentury BCIQUBR5
ClinGenUBR5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51366
Chemical/Pharm GKB GenePA162408175
Clinical trialUBR5
Miscellaneous
canSAR (ICR)UBR5 (select the gene name)
DataMed IndexUBR5
Probes
Litterature
PubMed152 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBR5
EVEXUBR5
GoPubMedUBR5
iHOPUBR5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:14:05 CET 2019
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