Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Identity

Alias (NCBI)C20orf18
HOIL-1
HOIL1
PBMEI
PGBM1
RBCK2
RNF54
UBCE7IP3
XAP3
XAP4
ZRANB4
HGNC (Hugo) RBCK1
HGNC Alias symbRBCK2
XAP4
RNF54
ZRANB4
UBCE7IP3
HOIL1
HGNC Alias nameheme-oxidized IRP2 ubiquitin ligase 1
HGNC Previous nameC20orf18
HGNC Previous namechromosome 20 open reading frame 18
 RanBP-type and C3HC4-type zinc finger containing 1
LocusID (NCBI) 10616
Atlas_Id 51404
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 408299 and ends at 432137 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)
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    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]
Ensembl hg38 (Hinxton)ENSG00000125826 [Gene_View]  ENSG00000125826 [Sequence]  chr20:408299-432137 [Contig_View]  RBCK1 [Vega]
ICGC DataPortalENSG00000125826
TCGA cBioPortalRBCK1
AceView (NCBI)RBCK1
Genatlas (Paris)RBCK1
SOURCE (Princeton)RBCK1
Genetics Home Reference (NIH)RBCK1
Genomic and cartography
GoldenPath hg38 (UCSC)RBCK1  -     chr20:408299-432137 +  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RBCK1  -     20p13   [Description]    (hg19-Feb_2009)
GoldenPathRBCK1 - 20p13 [CytoView hg19]  RBCK1 - 20p13 [CytoView hg38]
ImmunoBaseENSG00000125826
Genome Data Viewer NCBIRBCK1 [Mapview hg19]  
OMIM610924   615895   
Gene and transcription
Genbank (Entrez)AB107766 AK297524 AK303357 AK309414 AW293635
RefSeq transcript (Entrez)NM_001323956 NM_001323958 NM_001323960 NM_006462 NM_031227 NM_031228 NM_031229
Consensus coding sequences : CCDS (NCBI)RBCK1
Gene ExpressionRBCK1 [ NCBI-GEO ]   RBCK1 [ EBI - ARRAY_EXPRESS ]   RBCK1 [ SEEK ]   RBCK1 [ MEM ]
Gene Expression Viewer (FireBrowse)RBCK1 [ Firebrowse - Broad ]
GenevisibleExpression of RBCK1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10616
GTEX Portal (Tissue expression)RBCK1
Human Protein AtlasENSG00000125826-RBCK1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9BYM8
Domaine pattern : Prosite (Expaxy)TRIAD (PS51873)    UBIQUITIN_2 (PS50053)    ZF_RANBP2_1 (PS01358)    ZF_RANBP2_2 (PS50199)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)IBR_dom    RBCK1/SHARPIN    TRIAD_supradom    Ubiquitin-like_dom    Ubiquitin-like_domsf    Znf-RING_LisH    Znf_RanBP2    Znf_RanBP2_sf    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)IBR (PF01485)    zf-RING_UBOX (PF13445)   
Domain families : Pfam (NCBI)pfam01485    pfam13445   
Domain families : Smart (EMBL)RING (SM00184)  ZnF_RBZ (SM00547)  
Conserved Domain (NCBI)RBCK1
PDB (RSDB)2CRC    2LGY    4DBG   
PDB Europe2CRC    2LGY    4DBG   
PDB (PDBSum)2CRC    2LGY    4DBG   
PDB (IMB)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
AlphaFold pdb e-kbQ9BYM8   
Human Protein Atlas [tissue]ENSG00000125826-RBCK1 [tissue]
HPRD16643
Protein Interaction databases
DIP (DOE-UCLA)Q9BYM8
IntAct (EBI)Q9BYM8
BioGRIDRBCK1
STRING (EMBL)RBCK1
ZODIACRBCK1
Ontologies - Pathways
QuickGOQ9BYM8
Ontology : AmiGOubiquitin ligase complex  protein polyubiquitination  protein polyubiquitination  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  cytosol  I-kappaB kinase/NF-kappaB signaling  regulation of tumor necrosis factor-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  identical protein binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin binding  ubiquitin binding  proteasome-mediated ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  metal ion binding  T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  negative regulation of necroptotic process  LUBAC complex  LUBAC complex  protein linear polyubiquitination  protein linear polyubiquitination  positive regulation of NIK/NF-kappaB signaling  positive regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIubiquitin ligase complex  protein polyubiquitination  protein polyubiquitination  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  cytosol  I-kappaB kinase/NF-kappaB signaling  regulation of tumor necrosis factor-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  identical protein binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin binding  ubiquitin binding  proteasome-mediated ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  metal ion binding  T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  negative regulation of necroptotic process  LUBAC complex  LUBAC complex  protein linear polyubiquitination  protein linear polyubiquitination  positive regulation of NIK/NF-kappaB signaling  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
Homologs : HomoloGeneRBCK1
Homology/Alignments : Family Browser (UCSC)RBCK1
Gene fusions - Rearrangements
Fusion : QuiverRBCK1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRBCK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RBCK1
dbVarRBCK1
ClinVarRBCK1
MonarchRBCK1
1000_GenomesRBCK1 
Exome Variant ServerRBCK1
GNOMAD BrowserENSG00000125826
Varsome BrowserRBCK1
ACMGRBCK1 variants
VarityQ9BYM8
Genomic Variants (DGV)RBCK1 [DGVbeta]
DECIPHERRBCK1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DRBCK1
Mutations and Diseases : HGMDRBCK1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRBCK1
DgiDB (Drug Gene Interaction Database)RBCK1
DoCM (Curated mutations)RBCK1
CIViC (Clinical Interpretations of Variants in Cancer)RBCK1
Cancer3DRBCK1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610924    615895   
Orphanet21903    22708   
DisGeNETRBCK1
MedgenRBCK1
Genetic Testing Registry RBCK1
NextProtQ9BYM8 [Medical]
GENETestsRBCK1
Target ValidationRBCK1
Huge Navigator RBCK1 [HugePedia]
ClinGenRBCK1
Clinical trials, drugs, therapy
MyCancerGenomeRBCK1
Protein Interactions : CTDRBCK1
Pharm GKB GenePA25723
PharosQ9BYM8
Clinical trialRBCK1
Miscellaneous
canSAR (ICR)RBCK1
HarmonizomeRBCK1
ARCHS4RBCK1
DataMed IndexRBCK1
Probes
Litterature
PubMed116 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRBCK1
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 : Sun Jan 16 18:30:40 CET 2022

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.