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UBE3B (ubiquitin protein ligase E3B)

Identity

Other aliasBPIDS
KOS
HGNC (Hugo) UBE3B
LocusID (NCBI) 89910
Atlas_Id 47382
Location 12q24.11  [Link to chromosome band 12q24]
Location_base_pair Starts at 109477623 and ends at 109490722 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FAM19A5 (22q13.32) / UBE3B (12q24.11)

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)UBE3B   13478
Cards
Entrez_Gene (NCBI)UBE3B  89910  ubiquitin protein ligase E3B
AliasesBPIDS; KOS
GeneCards (Weizmann)UBE3B
Ensembl hg19 (Hinxton)ENSG00000151148 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151148 [Gene_View]  chr12:109477623-109490722 [Contig_View]  UBE3B [Vega]
ICGC DataPortalENSG00000151148
TCGA cBioPortalUBE3B
AceView (NCBI)UBE3B
Genatlas (Paris)UBE3B
WikiGenes89910
SOURCE (Princeton)UBE3B
Genetics Home Reference (NIH)UBE3B
Genomic and cartography
GoldenPath hg38 (UCSC)UBE3B  -     chr12:109477623-109490722 +  12q24.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBE3B  -     12q24.11   [Description]    (hg19-Feb_2009)
EnsemblUBE3B - 12q24.11 [CytoView hg19]  UBE3B - 12q24.11 [CytoView hg38]
Mapping of homologs : NCBIUBE3B [Mapview hg19]  UBE3B [Mapview hg38]
OMIM244450   608047   
Gene and transcription
Genbank (Entrez)AF130072 AF251046 AK022019 AK056015 AK127227
RefSeq transcript (Entrez)NM_001270449 NM_001270450 NM_001270451 NM_130466 NM_183414 NM_183415
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBE3B
Cluster EST : UnigeneHs.374067 [ NCBI ]
CGAP (NCI)Hs.374067
Alternative Splicing GalleryENSG00000151148
Gene ExpressionUBE3B [ NCBI-GEO ]   UBE3B [ EBI - ARRAY_EXPRESS ]   UBE3B [ SEEK ]   UBE3B [ MEM ]
Gene Expression Viewer (FireBrowse)UBE3B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)89910
GTEX Portal (Tissue expression)UBE3B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z3V4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z3V4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z3V4
Splice isoforms : SwissVarQ7Z3V4
Catalytic activity : Enzyme2.3.2.26 [ Enzyme-Expasy ]   2.3.2.262.3.2.26 [ IntEnz-EBI ]   2.3.2.26 [ BRENDA ]   2.3.2.26 [ KEGG ]   
PhosPhoSitePlusQ7Z3V4
Domaine pattern : Prosite (Expaxy)HECT (PS50237)    IQ (PS50096)   
Domains : Interpro (EBI)HECT_dom    IQ_motif_EF-hand-BS   
Domain families : Pfam (Sanger)HECT (PF00632)   
Domain families : Pfam (NCBI)pfam00632   
Domain families : Smart (EMBL)HECTc (SM00119)  IQ (SM00015)  
Conserved Domain (NCBI)UBE3B
DMDM Disease mutations89910
Blocks (Seattle)UBE3B
SuperfamilyQ7Z3V4
Human Protein AtlasENSG00000151148
Peptide AtlasQ7Z3V4
HPRD06993
IPIIPI00470597   IPI00411596   IPI00385576   IPI00921396   IPI00644922   IPI01013320   IPI01012137   IPI01010864   IPI00910699   IPI00921910   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z3V4
IntAct (EBI)Q7Z3V4
FunCoupENSG00000151148
BioGRIDUBE3B
STRING (EMBL)UBE3B
ZODIACUBE3B
Ontologies - Pathways
QuickGOQ7Z3V4
Ontology : AmiGOubiquitin-protein transferase activity  protein ubiquitination  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein ubiquitination  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkUBE3B
Atlas of Cancer Signalling NetworkUBE3B
Wikipedia pathwaysUBE3B
Orthology - Evolution
OrthoDB89910
GeneTree (enSembl)ENSG00000151148
Phylogenetic Trees/Animal Genes : TreeFamUBE3B
HOVERGENQ7Z3V4
HOGENOMQ7Z3V4
Homologs : HomoloGeneUBE3B
Homology/Alignments : Family Browser (UCSC)UBE3B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBE3B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBE3B
dbVarUBE3B
ClinVarUBE3B
1000_GenomesUBE3B 
Exome Variant ServerUBE3B
ExAC (Exome Aggregation Consortium)UBE3B (select the gene name)
Genetic variants : HAPMAP89910
Genomic Variants (DGV)UBE3B [DGVbeta]
DECIPHERUBE3B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBE3B 
Mutations
ICGC Data PortalUBE3B 
TCGA Data PortalUBE3B 
Broad Tumor PortalUBE3B
OASIS PortalUBE3B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBE3B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUBE3B
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 UBE3B
DgiDB (Drug Gene Interaction Database)UBE3B
DoCM (Curated mutations)UBE3B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBE3B (select a term)
intoGenUBE3B
Cancer3DUBE3B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM244450    608047   
Orphanet2468    21918   
MedgenUBE3B
Genetic Testing Registry UBE3B
NextProtQ7Z3V4 [Medical]
TSGene89910
GENETestsUBE3B
Huge Navigator UBE3B [HugePedia]
snp3D : Map Gene to Disease89910
BioCentury BCIQUBE3B
ClinGenUBE3B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD89910
Chemical/Pharm GKB GenePA134872189
Clinical trialUBE3B
Miscellaneous
canSAR (ICR)UBE3B (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBE3B
EVEXUBE3B
GoPubMedUBE3B
iHOPUBE3B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:43:07 CEST 2017

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