Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UBR1 (ubiquitin protein ligase E3 component n-recognin 1)

Identity

Other aliasJBS
HGNC (Hugo) UBR1
LocusID (NCBI) 197131
Atlas_Id 55519
Location 15q15.2  [Link to chromosome band 15q15]
Location_base_pair Starts at 42942900 and ends at 43106088 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)
UBR1 (15q15.2) / SUPV3L1 (10q22.1)UBR1 (15q15.2) / TGM5 (15q15.2)

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) [ 2 ]
  t(10;15)(q22;q15) UBR1/SUPV3L1
UBR1/TGM5 (15q15)

External links

Nomenclature
HGNC (Hugo)UBR1   16808
Cards
Entrez_Gene (NCBI)UBR1  197131  ubiquitin protein ligase E3 component n-recognin 1
AliasesJBS
GeneCards (Weizmann)UBR1
Ensembl hg19 (Hinxton)ENSG00000159459 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159459 [Gene_View]  ENSG00000159459 [Sequence]  chr15:42942900-43106088 [Contig_View]  UBR1 [Vega]
ICGC DataPortalENSG00000159459
TCGA cBioPortalUBR1
AceView (NCBI)UBR1
Genatlas (Paris)UBR1
WikiGenes197131
SOURCE (Princeton)UBR1
Genetics Home Reference (NIH)UBR1
Genomic and cartography
GoldenPath hg38 (UCSC)UBR1  -     chr15:42942900-43106088 -  15q15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBR1  -     15q15.2   [Description]    (hg19-Feb_2009)
GoldenPathUBR1 - 15q15.2 [CytoView hg19]  UBR1 - 15q15.2 [CytoView hg38]
ImmunoBaseENSG00000159459
Mapping of homologs : NCBIUBR1 [Mapview hg19]  UBR1 [Mapview hg38]
OMIM243800   605981   
Gene and transcription
Genbank (Entrez)AF061556 AF525401 AK027803 AK054969 AK056441
RefSeq transcript (Entrez)NM_174916
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBR1
Cluster EST : UnigeneHs.591121 [ NCBI ]
CGAP (NCI)Hs.591121
Alternative Splicing GalleryENSG00000159459
Gene ExpressionUBR1 [ NCBI-GEO ]   UBR1 [ EBI - ARRAY_EXPRESS ]   UBR1 [ SEEK ]   UBR1 [ MEM ]
Gene Expression Viewer (FireBrowse)UBR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)197131
GTEX Portal (Tissue expression)UBR1
Human Protein AtlasENSG00000159459-UBR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWV7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWV7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWV7
Splice isoforms : SwissVarQ8IWV7
PhosPhoSitePlusQ8IWV7
Domaine pattern : Prosite (Expaxy)ZF_UBR (PS51157)   
Domains : Interpro (EBI)ClpS_core    Ribosomal_L7/12_C/ClpS-like    WH_DNA-bd_sf    Znf_UBR   
Domain families : Pfam (Sanger)ClpS (PF02617)    zf-UBR (PF02207)   
Domain families : Pfam (NCBI)pfam02617    pfam02207   
Domain families : Smart (EMBL)ZnF_UBR1 (SM00396)  
Conserved Domain (NCBI)UBR1
DMDM Disease mutations197131
Blocks (Seattle)UBR1
PDB (RSDB)3NY1    5TDC   
PDB Europe3NY1    5TDC   
PDB (PDBSum)3NY1    5TDC   
PDB (IMB)3NY1    5TDC   
Structural Biology KnowledgeBase3NY1    5TDC   
SCOP (Structural Classification of Proteins)3NY1    5TDC   
CATH (Classification of proteins structures)3NY1    5TDC   
SuperfamilyQ8IWV7
Human Protein Atlas [tissue]ENSG00000159459-UBR1 [tissue]
Peptide AtlasQ8IWV7
HPRD09342
IPIIPI00217405   IPI00470915   IPI01014196   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWV7
IntAct (EBI)Q8IWV7
FunCoupENSG00000159459
BioGRIDUBR1
STRING (EMBL)UBR1
ZODIACUBR1
Ontologies - Pathways
QuickGOQ8IWV7
Ontology : AmiGOubiquitin ligase complex  proteasome complex  protein binding  cytoplasm  cytosol  zinc ion binding  protein ubiquitination  protein ubiquitination  negative regulation of TOR signaling  ubiquitin protein ligase activity  leucine binding  cellular response to leucine  ubiquitin-dependent protein catabolic process via the N-end rule pathway  
Ontology : EGO-EBIubiquitin ligase complex  proteasome complex  protein binding  cytoplasm  cytosol  zinc ion binding  protein ubiquitination  protein ubiquitination  negative regulation of TOR signaling  ubiquitin protein ligase activity  leucine binding  cellular response to leucine  ubiquitin-dependent protein catabolic process via the N-end rule pathway  
NDEx NetworkUBR1
Atlas of Cancer Signalling NetworkUBR1
Wikipedia pathwaysUBR1
Orthology - Evolution
OrthoDB197131
GeneTree (enSembl)ENSG00000159459
Phylogenetic Trees/Animal Genes : TreeFamUBR1
HOGENOMQ8IWV7
Homologs : HomoloGeneUBR1
Homology/Alignments : Family Browser (UCSC)UBR1
Gene fusions - Rearrangements
Fusion : QuiverUBR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBR1
dbVarUBR1
ClinVarUBR1
1000_GenomesUBR1 
Exome Variant ServerUBR1
ExAC (Exome Aggregation Consortium)ENSG00000159459
GNOMAD BrowserENSG00000159459
Varsome BrowserUBR1
Genetic variants : HAPMAP197131
Genomic Variants (DGV)UBR1 [DGVbeta]
DECIPHERUBR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBR1 
Mutations
ICGC Data PortalUBR1 
TCGA Data PortalUBR1 
Broad Tumor PortalUBR1
OASIS PortalUBR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBR1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUBR1
Mutations and Diseases : HGMDUBR1
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch UBR1
DgiDB (Drug Gene Interaction Database)UBR1
DoCM (Curated mutations)UBR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBR1 (select a term)
intoGenUBR1
Cancer3DUBR1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM243800    605981   
Orphanet2172   
DisGeNETUBR1
MedgenUBR1
Genetic Testing Registry UBR1
NextProtQ8IWV7 [Medical]
TSGene197131
GENETestsUBR1
Target ValidationUBR1
Huge Navigator UBR1 [HugePedia]
snp3D : Map Gene to Disease197131
BioCentury BCIQUBR1
ClinGenUBR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD197131
Chemical/Pharm GKB GenePA38187
Clinical trialUBR1
Miscellaneous
canSAR (ICR)UBR1 (select the gene name)
DataMed IndexUBR1
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBR1
EVEXUBR1
GoPubMedUBR1
iHOPUBR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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