Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1)

Identity

Alias_namesC20orf18
chromosome 20 open reading frame 18
RanBP-type and C3HC4-type zinc finger containing 1
Alias_symbol (synonym)RBCK2
XAP4
RNF54
ZRANB4
UBCE7IP3
HOIL1
Other aliasHOIL-1
PBMEI
PGBM1
XAP3
HGNC (Hugo) RBCK1
LocusID (NCBI) 10616
Atlas_Id 51404
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 388709 and ends at 411610 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CNPY3 (6p21.1) / RBCK1 (20p13)MINOS1-NBL1 (1p36.13) / RBCK1 (20p13)RBCK1 (20p13) / ATHL1 (11p15.5)
RBCK1 (20p13) / TCTEX1D2 (3q29)

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)RBCK1   15864
LRG (Locus Reference Genomic)LRG_728
Cards
Entrez_Gene (NCBI)RBCK1  10616  RANBP2-type and C3HC4-type zinc finger containing 1
AliasesC20orf18; HOIL-1; HOIL1; PBMEI; 
PGBM1; RBCK2; RNF54; UBCE7IP3; XAP3; XAP4; ZRANB4
GeneCards (Weizmann)RBCK1
Ensembl hg19 (Hinxton)ENSG00000125826 [Gene_View]  chr20:388709-411610 [Contig_View]  RBCK1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125826 [Gene_View]  chr20:388709-411610 [Contig_View]  RBCK1 [Vega]
ICGC DataPortalENSG00000125826
TCGA cBioPortalRBCK1
AceView (NCBI)RBCK1
Genatlas (Paris)RBCK1
WikiGenes10616
SOURCE (Princeton)RBCK1
Genetics Home Reference (NIH)RBCK1
Genomic and cartography
GoldenPath hg19 (UCSC)RBCK1  -     chr20:388709-411610 +  20p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RBCK1  -     20p13   [Description]    (hg38-Dec_2013)
EnsemblRBCK1 - 20p13 [CytoView hg19]  RBCK1 - 20p13 [CytoView hg38]
Mapping of homologs : NCBIRBCK1 [Mapview hg19]  RBCK1 [Mapview hg38]
OMIM610924   615895   
Gene and transcription
Genbank (Entrez)AB107766 AK297524 AK303357 AK309414 BC000983
RefSeq transcript (Entrez)NM_006462 NM_031227 NM_031228 NM_031229
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_033233 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)RBCK1
Cluster EST : UnigeneHs.247280 [ NCBI ]
CGAP (NCI)Hs.247280
Alternative Splicing GalleryENSG00000125826
Gene ExpressionRBCK1 [ NCBI-GEO ]   RBCK1 [ EBI - ARRAY_EXPRESS ]   RBCK1 [ SEEK ]   RBCK1 [ MEM ]
Gene Expression Viewer (FireBrowse)RBCK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10616
GTEX Portal (Tissue expression)RBCK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYM8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BYM8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BYM8
Splice isoforms : SwissVarQ9BYM8
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.-6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
PhosPhoSitePlusQ9BYM8
Domaine pattern : Prosite (Expaxy)UBIQUITIN_2 (PS50053)    ZF_RANBP2_1 (PS01358)    ZF_RANBP2_2 (PS50199)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)Ubiquitin-rel_dom    Ubiquitin_dom    Znf_RanBP2    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)zf-RING_2 (PF13639)   
Domain families : Pfam (NCBI)pfam13639   
Domain families : Smart (EMBL)RING (SM00184)  ZnF_RBZ (SM00547)  
Conserved Domain (NCBI)RBCK1
DMDM Disease mutations10616
Blocks (Seattle)RBCK1
PDB (SRS)2CRC    2LGY    4DBG   
PDB (PDBSum)2CRC    2LGY    4DBG   
PDB (IMB)2CRC    2LGY    4DBG   
PDB (RSDB)2CRC    2LGY    4DBG   
Structural Biology KnowledgeBase2CRC    2LGY    4DBG   
SCOP (Structural Classification of Proteins)2CRC    2LGY    4DBG   
CATH (Classification of proteins structures)2CRC    2LGY    4DBG   
SuperfamilyQ9BYM8
Human Protein AtlasENSG00000125826
Peptide AtlasQ9BYM8
HPRD16643
IPIIPI00783058   IPI00010748   IPI00220104   IPI00909767   IPI00552857   IPI00552695   IPI00852674   IPI00853524   IPI00852801   IPI00852579   IPI00852931   IPI00852724   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYM8
IntAct (EBI)Q9BYM8
FunCoupENSG00000125826
BioGRIDRBCK1
STRING (EMBL)RBCK1
ZODIACRBCK1
Ontologies - Pathways
QuickGOQ9BYM8
Ontology : AmiGOprotein polyubiquitination  protein polyubiquitination  double-stranded DNA binding  transcription factor activity, sequence-specific DNA binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein kinase C binding  protein binding  cytosol  I-kappaB kinase/NF-kappaB signaling  zinc ion binding  regulation of tumor necrosis factor-mediated signaling pathway  viral process  ligase activity  negative regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB import into nucleus  positive regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin binding  proteasome-mediated ubiquitin-dependent protein catabolic process  positive regulation of transcription from RNA polymerase II promoter  T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  negative regulation of necroptotic process  LUBAC complex  protein linear polyubiquitination  positive regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIprotein polyubiquitination  protein polyubiquitination  double-stranded DNA binding  transcription factor activity, sequence-specific DNA binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein kinase C binding  protein binding  cytosol  I-kappaB kinase/NF-kappaB signaling  zinc ion binding  regulation of tumor necrosis factor-mediated signaling pathway  viral process  ligase activity  negative regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB import into nucleus  positive regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin binding  proteasome-mediated ubiquitin-dependent protein catabolic process  positive regulation of transcription from RNA polymerase II promoter  T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  negative regulation of necroptotic process  LUBAC complex  protein linear polyubiquitination  positive regulation of extrinsic apoptotic signaling pathway  
NDEx NetworkRBCK1
Atlas of Cancer Signalling NetworkRBCK1
Wikipedia pathwaysRBCK1
Orthology - Evolution
OrthoDB10616
GeneTree (enSembl)ENSG00000125826
Phylogenetic Trees/Animal Genes : TreeFamRBCK1
HOVERGENQ9BYM8
HOGENOMQ9BYM8
Homologs : HomoloGeneRBCK1
Homology/Alignments : Family Browser (UCSC)RBCK1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRBCK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RBCK1
dbVarRBCK1
ClinVarRBCK1
1000_GenomesRBCK1 
Exome Variant ServerRBCK1
ExAC (Exome Aggregation Consortium)RBCK1 (select the gene name)
Genetic variants : HAPMAP10616
Genomic Variants (DGV)RBCK1 [DGVbeta]
DECIPHER (Syndromes)20:388709-411610  ENSG00000125826
CONAN: Copy Number AnalysisRBCK1 
Mutations
ICGC Data PortalRBCK1 
TCGA Data PortalRBCK1 
Broad Tumor PortalRBCK1
OASIS PortalRBCK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRBCK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRBCK1
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch RBCK1
DgiDB (Drug Gene Interaction Database)RBCK1
DoCM (Curated mutations)RBCK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RBCK1 (select a term)
intoGenRBCK1
Cancer3DRBCK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610924    615895   
Orphanet21903    22708   
MedgenRBCK1
Genetic Testing Registry RBCK1
NextProtQ9BYM8 [Medical]
TSGene10616
GENETestsRBCK1
Huge Navigator RBCK1 [HugePedia]
snp3D : Map Gene to Disease10616
BioCentury BCIQRBCK1
ClinGenRBCK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10616
Chemical/Pharm GKB GenePA25723
Clinical trialRBCK1
Miscellaneous
canSAR (ICR)RBCK1 (select the gene name)
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRBCK1
EVEXRBCK1
GoPubMedRBCK1
iHOPRBCK1
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 : Thu Mar 30 15:17:01 CEST 2017

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