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RBBP6 (RB binding protein 6, ubiquitin ligase)

Identity

Alias_namesretinoblastoma-binding protein 6
retinoblastoma binding protein 6
Alias_symbol (synonym)P2P-R
PACT
SNAMA
Other aliasMY038
RBQ-1
HGNC (Hugo) RBBP6
LocusID (NCBI) 5930
Atlas_Id 42064
Location 16p12.1  [Link to chromosome band 16p12]
Location_base_pair Starts at 24539587 and ends at 24572862 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NARFL (16p13.3) / RBBP6 (16p12.1)RBBP6 (16p12.1) / CANX (5q35.3)RBBP6 (16p12.1) / CEP350 (1q25.2)
RBBP6 (16p12.1) / ETNK1 (12p12.1)RBBP6 (16p12.1) / RBBP6 (16p12.1)RBBP6 (16p12.1) / RSF1 (11q14.1)
RBBP6 (16p12.1) / VWF (12p13.31)SBF2 (11p15.4) / RBBP6 (16p12.1)NARFL 16p13.3 / RBBP6 16p12.1

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial Myeloproliferative Disorders


External links

Nomenclature
HGNC (Hugo)RBBP6   9889
Cards
Entrez_Gene (NCBI)RBBP6  5930  RB binding protein 6, ubiquitin ligase
AliasesMY038; P2P-R; PACT; RBQ-1; 
SNAMA
GeneCards (Weizmann)RBBP6
Ensembl hg19 (Hinxton)ENSG00000122257 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122257 [Gene_View]  chr16:24539587-24572862 [Contig_View]  RBBP6 [Vega]
ICGC DataPortalENSG00000122257
TCGA cBioPortalRBBP6
AceView (NCBI)RBBP6
Genatlas (Paris)RBBP6
WikiGenes5930
SOURCE (Princeton)RBBP6
Genetics Home Reference (NIH)RBBP6
Genomic and cartography
GoldenPath hg38 (UCSC)RBBP6  -     chr16:24539587-24572862 +  16p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RBBP6  -     16p12.1   [Description]    (hg19-Feb_2009)
EnsemblRBBP6 - 16p12.1 [CytoView hg19]  RBBP6 - 16p12.1 [CytoView hg38]
Mapping of homologs : NCBIRBBP6 [Mapview hg19]  RBBP6 [Mapview hg38]
OMIM600938   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_006910 NM_018703 NM_032626
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RBBP6
Cluster EST : UnigeneHs.188553 [ NCBI ]
CGAP (NCI)Hs.188553
Alternative Splicing GalleryENSG00000122257
Gene ExpressionRBBP6 [ NCBI-GEO ]   RBBP6 [ EBI - ARRAY_EXPRESS ]   RBBP6 [ SEEK ]   RBBP6 [ MEM ]
Gene Expression Viewer (FireBrowse)RBBP6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5930
GTEX Portal (Tissue expression)RBBP6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z6E9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z6E9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z6E9
Splice isoforms : SwissVarQ7Z6E9
Catalytic activity : Enzyme2.3.2.27 [ Enzyme-Expasy ]   2.3.2.272.3.2.27 [ IntEnz-EBI ]   2.3.2.27 [ BRENDA ]   2.3.2.27 [ KEGG ]   
PhosPhoSitePlusQ7Z6E9
Domaine pattern : Prosite (Expaxy)DWNN (PS51282)    ZF_CCHC (PS50158)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)DWNN_domain    RBBP6    Ubox_domain    Zn_knuckle_CX2CX3GHX4C    Znf_CCHC    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)DWNN (PF08783)    U-box (PF04564)    zf-CCHC_2 (PF13696)   
Domain families : Pfam (NCBI)pfam08783    pfam04564    pfam13696   
Domain families : Smart (EMBL)DWNN (SM01180)  RING (SM00184)  ZnF_C2HC (SM00343)  
Conserved Domain (NCBI)RBBP6
DMDM Disease mutations5930
Blocks (Seattle)RBBP6
PDB (SRS)2C7H    2YSA    2YUR    3ZTG   
PDB (PDBSum)2C7H    2YSA    2YUR    3ZTG   
PDB (IMB)2C7H    2YSA    2YUR    3ZTG   
PDB (RSDB)2C7H    2YSA    2YUR    3ZTG   
Structural Biology KnowledgeBase2C7H    2YSA    2YUR    3ZTG   
SCOP (Structural Classification of Proteins)2C7H    2YSA    2YUR    3ZTG   
CATH (Classification of proteins structures)2C7H    2YSA    2YUR    3ZTG   
SuperfamilyQ7Z6E9
Human Protein AtlasENSG00000122257
Peptide AtlasQ7Z6E9
HPRD02964
IPIIPI00337315   IPI00376283   IPI00166084   IPI00744671   IPI00060177   IPI00383372   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z6E9
IntAct (EBI)Q7Z6E9
FunCoupENSG00000122257
BioGRIDRBBP6
STRING (EMBL)RBBP6
ZODIACRBBP6
Ontologies - Pathways
QuickGOQ7Z6E9
Ontology : AmiGOprotein polyubiquitination  in utero embryonic development  RNA binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  chromosome  nucleolus  microtubule organizing center  cytosol  DNA replication  regulation of DNA replication  mRNA processing  cellular response to DNA damage stimulus  zinc ion binding  multicellular organism growth  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  embryonic organ development  somite development  ubiquitin protein ligase activity  
Ontology : EGO-EBIprotein polyubiquitination  in utero embryonic development  RNA binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  chromosome  nucleolus  microtubule organizing center  cytosol  DNA replication  regulation of DNA replication  mRNA processing  cellular response to DNA damage stimulus  zinc ion binding  multicellular organism growth  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  embryonic organ development  somite development  ubiquitin protein ligase activity  
NDEx NetworkRBBP6
Atlas of Cancer Signalling NetworkRBBP6
Wikipedia pathwaysRBBP6
Orthology - Evolution
OrthoDB5930
GeneTree (enSembl)ENSG00000122257
Phylogenetic Trees/Animal Genes : TreeFamRBBP6
HOVERGENQ7Z6E9
HOGENOMQ7Z6E9
Homologs : HomoloGeneRBBP6
Homology/Alignments : Family Browser (UCSC)RBBP6
Gene fusions - Rearrangements
Fusion : MitelmanNARFL/RBBP6 [16p13.3/16p12.1]  [t(16;16)(p12;p13)]  
Fusion: TCGANARFL 16p13.3 RBBP6 16p12.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRBBP6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RBBP6
dbVarRBBP6
ClinVarRBBP6
1000_GenomesRBBP6 
Exome Variant ServerRBBP6
ExAC (Exome Aggregation Consortium)RBBP6 (select the gene name)
Genetic variants : HAPMAP5930
Genomic Variants (DGV)RBBP6 [DGVbeta]
DECIPHERRBBP6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRBBP6 
Mutations
ICGC Data PortalRBBP6 
TCGA Data PortalRBBP6 
Broad Tumor PortalRBBP6
OASIS PortalRBBP6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRBBP6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRBBP6
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 RBBP6
DgiDB (Drug Gene Interaction Database)RBBP6
DoCM (Curated mutations)RBBP6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RBBP6 (select a term)
intoGenRBBP6
Cancer3DRBBP6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600938   
Orphanet
MedgenRBBP6
Genetic Testing Registry RBBP6
NextProtQ7Z6E9 [Medical]
TSGene5930
GENETestsRBBP6
Target ValidationRBBP6
Huge Navigator RBBP6 [HugePedia]
snp3D : Map Gene to Disease5930
BioCentury BCIQRBBP6
ClinGenRBBP6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5930
Chemical/Pharm GKB GenePA34253
Clinical trialRBBP6
Miscellaneous
canSAR (ICR)RBBP6 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRBBP6
EVEXRBBP6
GoPubMedRBBP6
iHOPRBBP6
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 : Tue Aug 1 17:12:40 CEST 2017

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