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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RBCK1 Gene

protein-coding   GIFtS: 54
GCID: GC20P000388

RanBP-type and C3HC4-type zinc finger containing 1

(Previous name: chromosome 20 open reading frame 18 )
(Previous symbol: C20orf18)
 Explore 3 diseases affiliated with
RBCK1 via our new
 Human Malady Compendium 
Biological research products
for RBCK1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RanBP-Type And C3HC4-Type Zinc Finger Containing 11 2     HOIL-12 3
C20orf181 2 3     XAP32 3
RNF541 2 3     HBV-Associated Factor 42 3
UBCE7IP31 2 3     RING Finger Protein 542 3
XAP41 2 3     Chromosome 20 Open Reading Frame 181
HOIL11 2 5     HBV Associated Factor 42
RBCK21 2     RanBP-Type And C3HC4-Type Zinc Finger-Containing Protein 12
ZRANB41 2     RBCC Protein Interacting With PKC12
Heme-Oxidized IRP2 Ubiquitin Ligase 12 3     Ubiquitin Conjugating Enzyme 7 Interacting Protein 32
Hepatitis B Virus X-Associated Protein 42 3     EC 6.3.2.-3
Ubiquitin-Conjugating Enzyme 7-Interacting Protein 32 3     

External Ids:    HGNC: 158641   Entrez Gene: 106162   Ensembl: ENSG000001258267   OMIM: 6109245   UniProtKB: Q9BYM83   

Export aliases for RBCK1 gene to outside databases

Previous GC identifer: GC20P000337


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RBCK1:
The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been
observed at this locus, resulting in distinct isoforms. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: HOIL1_HUMAN, Q9BYM8
Function: E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as
UBE2L3/UBCM4, and then transfers it to substrates. Functions as an E3 ligase for oxidized IREB2 and both heme and
oxygen are necessary for IREB2 ubiquitination. Promotes ubiquitination of TAB2 and IRF3 and their degradation by the
proteasome. Component of the LUBAC complex which conjugates linear ('M-1'-linked) polyubiquitin chains to substrates
and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to
IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear
ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation.
LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC
components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components
contributing to the stability of the complex. Binds polyubiquitin of different linkage types

Gene Wiki entry for RBCK1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBCK1 gene promoter:
         ER-alpha   Elk-1   HOXA3   Brachyury   LCR-F1   NF-kappaB   NF-kappaB1   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RBCK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RBCK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBCK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

RBCK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBCK1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P000388:  view genomic region     (about GC identifiers)

Start:
388,142 bp from pter      End:
411,610 bp from pter
Size:
23,469 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HOIL1_HUMAN, Q9BYM8 (See protein sequence)
Recommended Name: RanBP-type and C3HC4-type zinc finger-containing protein 1  
Size: 510 amino acids; 57572 Da
Subunit: Forms homodimers in vitro (By similarity). Component of the LUBAC complex (linear ubiquitin chain assembly
complex) which consists of SHARPIN, RBCK1 and RNF31. LUBAC has a MW of approximative 600 kDa suggesting a
heteromultimeric assembly of its subunits. Interacts with beta-I-type (PRKCB1) and zeta-type protein kinase C (PRKCZ)
and with UBE2L3. Interacts with PRKCH. Interacts with the HBV pX/HBx protein, which is required to activate
transcription of the viral genome. Isoform 1 and isoform 2 interact with IREB2 only in iron-rich conditions.
Associates with the TNF-R1 signaling complex (TNF-RSC) in a stimulation-dependent manner. Interacts with EYA1, TAB2,
TAB3, MAP3K7 TRAF6 and RIPK1. Interacts with IRF3
Sequence caution: Sequence=AAH15219.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for RBCK1:
2CRC (3D)        2LGY (3D)        4DBG (3D)    
Secondary accessions: O95623 Q86SL2 Q96BS3 Q9BYM9
Alternative splicing: 3 isoforms:  Q9BYM8-1   Q9BYM8-3   Q9BYM8-4   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for RBCK1: NX_Q9BYM8

Post-translational modifications:

  • Auto-ubiquitinated. Auto-ubiquitination leads to degradation by the proteasome (By similarity)1
  • Phosphorylated. In vitro, phosphorylation inhibits auto-ubiquitination activity (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BYM8

  • RBCK1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_006453.1  NP_112506.2  

    ENSEMBL proteins: 
     ENSP00000415080   ENSP00000371649   ENSP00000348632   ENSP00000405288   ENSP00000417173  
     ENSP00000387799   ENSP00000254960   ENSP00000371616   ENSP00000383106   ENSP00000393841  
    Reactome Protein details: Q9BYM8
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    Novus Biologicals RBCK1 Proteins
    Novus Biologicals RBCK1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RBCK1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0071797LUBAC complex IDA--


    RBCK1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RBCK1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RBCK1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR001841 Znf_RING
     IPR026261 RBCK1
     IPR013083 Znf_RING/FYVE/PHD
     IPR019955 Ubiquitin_supergroup
     IPR017907 Znf_RING_CS

    Graphical View of Domain Structure for InterPro Entry Q9BYM8

    ProtoNet protein and cluster: Q9BYM8

    3 Blocks protein families:
    IPB000626 Ubiquitin domain
    IPB001841 Zn-finger
    IPB001876 Zn-finger


    UniProtKB/Swiss-Prot: HOIL1_HUMAN, Q9BYM8
    Domain: The RanBP2-type zinc finger, also called Npl4 zinc finger (NZF), mediates binding to 'M-1'-linked
    polyubiquitins (By similarity)
    Domain: The UBL domain mediates association with RNF31 via interaction with its UBA domain
    Similarity: Contains 1 IBR-type zinc finger
    Similarity: Contains 1 RanBP2-type zinc finger
    Similarity: Contains 2 RING-type zinc fingers
    Similarity: Contains 1 ubiquitin-like domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HOIL1_HUMAN, Q9BYM8
    Function: E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as
    UBE2L3/UBCM4, and then transfers it to substrates. Functions as an E3 ligase for oxidized IREB2 and both heme and
    oxygen are necessary for IREB2 ubiquitination. Promotes ubiquitination of TAB2 and IRF3 and their degradation by the
    proteasome. Component of the LUBAC complex which conjugates linear ('M-1'-linked) polyubiquitin chains to substrates
    and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to
    IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear
    ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation.
    LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC
    components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components
    contributing to the stability of the complex. Binds polyubiquitin of different linkage types
    Induction: By viral transfection

    Enzyme Number (IUBMB): EC 6.3.2.-1

    miRNA
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    hsa-miR-124 hsa-miR-185* hsa-miR-3151 hsa-miR-506 hsa-miR-486-3p hsa-miR-548aa
    SwitchGear 3'UTR luciferase reporter plasmidRBCK1 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700NOT sequence-specific DNA binding transcription factor activity TAS16083853
    GO:0004842ubiquitin-protein ligase activity IDA12629548
    GO:0005080protein kinase C binding ----
    GO:0005515protein binding IPI--


    RBCK1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Rbck1tm1Kiwa for RBCK1
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rbck1):
     cellular  liver/biliary system 

    RBCK1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation1.00
    Polyubiquitination of substrate0.75
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System1.00
    Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for RBCK1
        Antigen processing: Ubiquitination & Proteasome degradation
    Polyubiquitination of substrate
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System



    RBCK1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RBCK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/53 Interacting proteins for RBCK1 (Q9BYM81, 2, 3 ENSP000003486324) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF31Q96EP02, 3, ENSP000003151124MINT-8410460 MINT-8410293 MINT-3377861 MINT-8380224 MINT-8380275 MINT-3377799 MINT-8294986 MINT-8380394 MINT-3377829 MINT-8380340 MINT-3377775 MINT-8380248 MINT-8380301 MINT-8380321 MINT-8402491 MINT-8410335 MINT-8380361 MINT-8380200 MINT-8379171 MINT-8410542 MINT-8380117 MINT-8410390 MINT-8380160 MINT-8380141 MINT-8380181 MINT-3377753 I2D: score=4 STRING: ENSP00000315112
    TNFP013752, 3MINT-8410390 I2D: score=1 
    SHARPINQ9H0F62, 3, ENSP000003816984MINT-8410335 MINT-8410390 MINT-8410460 MINT-8410293 MINT-8410542 I2D: score=1 STRING: ENSP00000381698
    IKBKGQ9Y6K92, 3, ENSP000003586224MINT-8294986 MINT-8410390 MINT-8410293 MINT-8410542 I2D: score=3 STRING: ENSP00000358622
    TNFAIP3P215802MINT-8410335 MINT-8410390 MINT-8410460 MINT-8410293
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA12629548
    GO:0006351transcription, DNA-dependent IEA--
    GO:0019048virus-host interaction IEA--
    GO:0032088negative regulation of NF-kappaB transcription factor activity IDA17449468
    GO:0042346positive regulation of NF-kappaB import into nucleus IEA--


    RBCK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RBCK1
    Search CenterWatch for drugs/clinical trials and news about RBCK1 / HOIL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RBCK1 gene (4 alternative transcripts): 
    NM_006462.4  NM_031229.2  NM_031227.1  NM_031228.1  

    Unigene Cluster for RBCK1:

    RanBP-type and C3HC4-type zinc finger containing 1
    Hs.247280  [show with all ESTs]
    Unigene Representative Sequence: NM_031229
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000411647 ENST00000465226 ENST00000382214(uc010fzy.3) ENST00000356286(uc002wdp.4 uc002wdq.4)
    ENST00000415942(uc010zpl.1 uc010zpm.1 uc002wdr.4) ENST00000475269(uc002wdo.3)
    ENST00000441733 ENST00000353660 ENST00000400245 ENST00000382181 ENST00000400247
    ENST00000414880 ENST00000468272

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    SwitchGear 3'UTR luciferase reporter plasmidRBCK1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB107766.1 AK297524.1 AK303357.1 AK309414.1 BC014116.2 BC015219.2 BC016301.2 U67322.1 

    22 DOTS entries:

    DT.91812875  DT.413058  DT.454224  DT.97848260  DT.100798097  DT.100811424  DT.95170996  DT.95094464 
    DT.100798098  DT.100798102  DT.92463083  DT.120813206  DT.120813220  DT.75167355  DT.95170992  DT.97835477 
    DT.102832175  DT.95170993  DT.95170994  DT.95171001  DT.100798094  DT.120813189 

    24/407 AceView cDNA sequences (see all 407):

    BE396413 BP431583 BI820740 NM_006462 BC016301 BQ927611 BU540444 AW151341 
    BM920785 NM_031229 BQ961742 BQ948128 BQ687582 BQ052558 CA447652 BE732019 
    BQ688614 BQ936448 BC000983 AW276485 BM784635 BQ932913 BU197040 CR625598 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for RBCK1 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ·
    SP1:                                                                                      -     -                                                               
    SP2:                                                                                                                                                            
    SP3:                                -     -           -     -     -     -     -     -     -     -                                                               
    SP4:                                                  -     -     -     -     -     -                                                                           
    SP5:                                                                                                                                                            

    ExUns: 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for RBCK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RBCK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGCAAAATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RBCK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBCK1

    SOURCE GeneReport for Unigene cluster: Hs.247280
        SABiosciences Expression via Pathway-Focused PCR Array including RBCK1: 
              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RBCK1 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia RBCK16
    --
    64(a)
    1 ↔ 1
    GL343346.1(1016022-1029992)
    zebrafish
    (Danio rerio)
    Actinopterygii rbck11 RanBP-type and C3HC4-type zinc finger containing 1 58.5(n)
    54.86(a)
      431715  NM_001002168.1  NP_001002168.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    12(a)
    1 → many
    Group13.8(385520-390898)
    worm
    (Caenorhabditis elegans)
    Secernentea Y57A10A.316
    Protein Y57A10A.31
    7(a)
    possible ortholog
    II(12289341-12300009)


    ENSEMBL Gene Tree for RBCK1 (if available)
    TreeFam Gene Tree for RBCK1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RBCK1 gene
    SHARPIN2  
    1 SIMAP similar gene for RBCK1 using alignment to 9 protein entries:     HOIL1_HUMAN (see all proteins):
    SHARPIN

    RBCK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/545 NCBI SNPs in RBCK1 are shown (see all 545    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1464423171,2
    --386728(+) ATTACA/CGATGT 2 -- us2k10--------
    rs1408203231,2
    --386736(+) TGTCCA/GCCACC 2 -- us2k10--------
    rs1420479241,2
    --386823(+) CTCAAA/GTGATC 2 -- us2k10--------
    rs1511378571,2
    --386930(+) AATTCC/TGTAAA 2 -- us2k10--------
    rs1406392961,2
    --387037(+) TTAGAC/TTGACA 2 -- us2k10--------
    rs1882625761,2
    --387100(+) CAGGTA/GATGAT 2 -- us2k10--------
    rs1810020531,2
    --387141(+) GGGAGG/TCCGAG 2 -- us2k10--------
    rs1504798711,2
    --387143(+) GAGGCC/TGAGGT 2 -- us2k10--------
    rs779689941,2
    C,--387376(+) AAAAAA/GGGCTT 2 -- us2k10--------
    rs1385081641,2
    --387443(+) TTTCCA/GGCAAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RBCK1 (388142 - 411610 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RBCK1: --
    Human Gene Mutation Database (HGMD): RBCK1

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RBCK1 for disorders           About GeneDecksing

    OMIM gene information: 610924    OMIM disorders: --

    3 diseases for RBCK1:    About MalaCards
    hepatitis b    hepatitis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for RBCK1:
    Glycogen storage disease IV

    Export disorders for RBCK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RBCK1 gene, integrated from 9 sources (see all 52):
    (articles sorted by number of sources associating them with RBCK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Negative feedback regulation of cellular antiviral signaling by RBCK1-mediated degradation of IRF3. (PubMed id 18711448)1, 2, 9 Zhang M....Shu H.B. (2008)
    2. Solution structure of the E3 ligase HOIL-1 Ubl domain. (PubMed id 22517668)1, 2 Beasley S.A.... Shaw G.S. (2012)
    3. A non-canonical UBA-UBL interaction forms the linear-u biquitin-chain assembly complex. (PubMed id 22430200)1, 2 Yagi H....Kato K. (2012)
    4. Involvement of linear polyubiquitylation of NEMO in N F-kappaB activation. (PubMed id 19136968)1, 2 Tokunaga F....Iwai K. (2009)
    5. Recruitment of the linear ubiquitin chain assembly co mplex stabilizes the TNF-R1 signaling complex and is required for TNF-mediated gene induction. (PubMed id 20005846)1, 2 Haas T.L....Walczak H. (2009)
    6. RBCK1 negatively regulates tumor necrosis factor- and interleukin-1-triggered NF-kappaB activation by targeting TAB2/3 for degradation. (PubMed id 17449468)1, 2 Tian Y....Shu H.B. (2007)
    7. A ubiquitin ligase complex assembles linear polyubiquitin chains. (PubMed id 17006537)1, 2 Kirisako T.... Iwai K. (2006)
    8. Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules. (PubMed id 15951569)1, 2 Zhang Y.... White F.M. (2005)
    9. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10616 HGNC: 15864 AceView: C20orf18 Ensembl:ENSG00000125826 euGenes: HUgn10616
    ECgene: RBCK1 H-InvDB: RBCK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RBCK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RBCK1 gene:
    Search GeneIP for patents involving RBCK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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