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RBCK1 Gene

protein-coding   GIFtS: 57
GCID: GC20P000388

RanBP-Type And C3HC4-Type Zinc Finger Containing 1

(Previous name: chromosome 20 open reading frame 18)
(Previous symbol: C20orf18)
  See RBCK1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RanBP-Type And C3HC4-Type Zinc Finger Containing 11 2     RING Finger Protein 542 3
C20orf181 2 3     HOIL12 5
Heme-Oxidized IRP2 Ubiquitin Ligase 11 2 3     Chromosome 20 Open Reading Frame 181
Hepatitis B Virus X-Associated Protein 42 3     RBCK22
Ubiquitin-Conjugating Enzyme 7-Interacting Protein 32 3     ZRANB42
HOIL-12 3     HBV Associated Factor 42
RNF542 3     RanBP-Type And C3HC4-Type Zinc Finger-Containing Protein 12
UBCE7IP32 3     RBCC Protein Interacting With PKC12
XAP32 3     Ubiquitin Conjugating Enzyme 7 Interacting Protein 32
XAP42 3     EC 6.3.2.-3
HBV-Associated Factor 42 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RBCK1 Gene:
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)

GeneCards Summary for RBCK1 Gene:
RBCK1 (RanBP-type and C3HC4-type zinc finger containing 1) is a protein-coding gene. Diseases associated with RBCK1 include polyglucosan body myopathy, and autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis. GO annotations related to this gene include ubiquitin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SHARPIN.

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 ('Met-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. Together with FAM105B/otulin, the LUBAC complex regulates the canonical Wnt signaling during
angiogenesis. Binds polyubiquitin of different linkage types

Gene Wiki entry for RBCK1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011387.9  NC_018931.2  
Regulatory elements:
   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 Chromatin IP Primers for RBCK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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

Explore proteomics data for RBCK1 at MOPED

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
  • Ubiquitination2 at Lys29, Lys158, Lys174, Lys254, Lys342
  • Modification sites at PhosphoSitePlus

  • See RBCK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    RBCK1 Human Recombinant Protein Products:

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    OriGene Purified Protein for RBCK1
    OriGene Protein Over-expression Lysate for RBCK1
    OriGene MassSpec for RBCK1
    OriGene Custom Protein Services for RBCK1
    GenScript Custom Purified and Recombinant Proteins Services for RBCK1
    Novus Biologicals RBCK1 Proteins
    Novus Biologicals RBCK1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RBCK1

     
    Search eBioscience for Proteins for RBCK1 

    RBCK1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals RBCK1 Antibodies
    Abcam antibodies for RBCK1
    Cloud-Clone Corp. Antibodies for RBCK1
    ThermoFisher Antibodies for RBCK1
    LSBio Antibodies in human, mouse, rat for RBCK1

    RBCK1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RBCK1
    Cloud-Clone Corp. CLIAs for RBCK1
    Search eBioscience for ELISAs for RBCK1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers
    ZRANB: Zinc fingers, RAN-binding domain containing

    Selected InterPro protein domains (see all 7):
     IPR001841 Znf_RING
     IPR026261 RBCK1
     IPR013083 Znf_RING/FYVE/PHD
     IPR000626 Ubiquitin_dom
     IPR017907 Znf_RING_CS

    Graphical View of Domain Structure for InterPro Entry Q9BYM8

    ProtoNet protein and cluster: Q9BYM8

    3 Blocks protein domains:
    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 'Met-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


    Find genes that share domains with RBCK1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 ('Met-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. Together with FAM105B/otulin, the LUBAC complex regulates the canonical Wnt signaling during
    angiogenesis. Binds polyubiquitin of different linkage types
    Induction: By viral transfection

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700NOT sequence-specific DNA binding transcription factor activity TAS16083853
    GO:0004842ubiquitin-protein ligase activity IDA12629548
    GO:0005515protein binding IPI16083853
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with RBCK1           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rbck1):
     cellular  liver/biliary system 

    Find genes that share phenotypes with RBCK1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rbck1tm1Kiwa for RBCK1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBCK1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RBCK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBCK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBCK1

    miRNA
    Products:
        
    miRTarBase miRNAs that target RBCK1:
    hsa-mir-124-3p (MIRT023193), hsa-mir-335-5p (MIRT019076), hsa-mir-34a-5p (MIRT025392)

    Block miRNA regulation of human, mouse, rat RBCK1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate RBCK1:
    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
    Products:
        
    OriGene RNAi products in human, mouse, rat for RBCK1
    Predesigned siRNA for gene silencing in human, mouse, rat RBCK1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RBCK1

    Clone
    Products:
         
    OriGene clones in human, mouse for RBCK1 (see all 12)
    OriGene ORF clones in mouse, rat for RBCK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RBCK1 (NM_031229)
    Sino Biological Human cDNA Clone for RBCK1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBCK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBCK1
    Addgene plasmids for RBCK1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for RBCK1
    Browse ESI BIO Cell Lines and PureStem Progenitors for RBCK1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBCK1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0071797LUBAC complex IDA17006537

    Find genes that share ontologies with RBCK1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RBCK1 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84


    Find genes that share SuperPaths with RBCK1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for RBCK1
        Antigen processing: Ubiquitination & Proteasome degradation


        Pathway & Disease-focused RT2 Profiler PCR Array including RBCK1: 
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for RBCK1

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

    Selected Interacting proteins for RBCK1 (Q9BYM81, 2, 3 ENSP000003486324) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF31Q96EP01, 2, 3, ENSP000003151124EBI-2340624,EBI-948111 MINT-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
    ENSG00000204490P013752, 3MINT-8410390 I2D: score=1 
    ENSG00000206439P013752, 3MINT-8410390 I2D: score=1 
    ENSG00000223952P013752, 3MINT-8410390 I2D: score=1 
    ENSG00000228849P013752, 3MINT-8410390 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA12629548
    GO:0006351transcription, DNA-templated ----
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0032088negative regulation of NF-kappaB transcription factor activity IDA17449468

    Find genes that share ontologies with RBCK1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RBCK1 (HOIL1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    Block miRNA regulation of human, mouse, rat RBCK1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate RBCK1:
    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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    Predesigned siRNA for gene silencing in human, mouse, rat RBCK1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RBCK1 (NM_031229)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBCK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBCK1
    Addgene plasmids for RBCK1 
    Primer
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    OriGene qPCR primer pairs and template standards for RBCK1
    OriGene qSTAR qPCR primer pairs in human, mouse for RBCK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RBCK1
      QuantiTect SYBR Green Assays in human, mouse, rat RBCK1
      QuantiFast Probe-based Assays in human, mouse, rat RBCK1

    Additional mRNA 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.100798094  DT.102832175  DT.95170993  DT.95170994  DT.95171001  DT.120813189 

    Selected AceView cDNA sequences (see all 407):

    BM809806 BQ936448 AI638773 BI820740 BM761558 BC014116 NM_031228 AI085740 
    BQ961742 BE732500 CK821828 CB159452 CK431000 BM784635 BM741231 BQ221417 
    AW276485 BC016301 BE732019 AW104674 BM765789 BE396413 BQ927611 BG166122 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RBCK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCAAAATG
    RBCK1 Expression
    About this image

    RBCK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBCK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.247280
        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RBCK1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbck11 , 5 RanBP-type and C3HC4-type zinc finger containing 11, 5 87.8(n)1
    91.54(a)1
      2 (74.83 cM)5
    241051  NM_001083921.11  NP_001077390.11 
     1523163345 
    lizard
    (Anolis carolinensis)
    Reptilia RBCK16
    RanBP-type and C3HC4-type zinc finger containing 1...
    64(a)
    1 ↔ 1
    GL343346.1(1012180-1030566)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004913001 ranBP-type and C3HC4-type zinc finger-containing protein more 67.2(n)
    63.6(a)
      100491300  XM_002941232.2  XP_002941278.2 
    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 


    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)
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    Paralogs for RBCK1 gene
    SHARPIN2  
    1 SIMAP similar gene for RBCK1 using alignment to 9 protein entries:     HOIL1_HUMAN (see all proteins):
    SHARPIN

    Find genes that share paralogs with RBCK1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RBCK1 (see all 668)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1464423171,2
    --334921(+) ATTACA/CGATGT 2 -- us2k10--------
    rs1408203231,2
    C--334929(+) TGTCCA/GCCACC 2 -- us2k10--------
    rs1420479241,2
    --335016(+) CTCAAA/GTGATC 2 -- us2k10--------
    rs1511378571,2
    C--335123(+) AATTCC/TGTAAA 2 -- us2k10--------
    rs1406392961,2
    --335230(+) TTAGAC/TTGACA 2 -- us2k10--------
    rs1882625761,2
    --335293(+) CAGGTA/GATGAT 2 -- us2k10--------
    rs1810020531,2
    C--335334(+) GGGAGG/TCCGAG 2 -- us2k10--------
    rs1504798711,2
    --335336(+) GAGGCC/TGAGGT 2 -- us2k10--------
    rs1385081641,2
    --335633(+) TTTCCA/GGCAAA 2 -- us2k10--------
    rs1872879401,2
    --335651(+) TTATCC/TCAGAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RBCK1 (388142 - 411610 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for RBCK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv510777CNV Loss20534489
    nsv912563CNV Loss21882294
    nsv458842CNV Loss19166990
    nsv510479CNV Loss20534489
    nsv458841CNV Loss19166990
    nsv912562CNV Loss21882294
    nsv912567CNV Loss21882294
    dgv4508n71CNV Gain21882294
    nsv912568CNV Gain21882294
    dgv4509n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): RBCK1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBCK1
    DNA2.0 Custom Variant and Variant Library Synthesis for RBCK1

    (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.)
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    OMIM gene information: 610924    OMIM disorders: --

    5 diseases for RBCK1:    
    About MalaCards
    polyglucosan body myopathy    autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis    hepatitis b    glycogen storage disease iv
    hepatitis

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

    Find genes that share disorders with RBCK1           About GenesLikeMe


    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)
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    PubMed articles for RBCK1 gene, integrated from 10 sources (see all 67):
    (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. (Cell Res. 2008)
    2. Solution structure of the E3 ligase HOIL-1 Ubl domain. (PubMed id 22517668)1, 2 Beasley S.A.... Shaw G.S. (Protein Sci. 2012)
    3. A non-canonical UBA-UBL interaction forms the linear-ubiquitin-chain assembly complex. (PubMed id 22430200)1, 2 Yagi H.... Kato K. (EMBO Rep. 2012)
    4. Involvement of linear polyubiquitylation of NEMO in NF-kappaB activation. (PubMed id 19136968)1, 2 Tokunaga F.... Iwai K. (Nat. Cell Biol. 2009)
    5. Recruitment of the linear ubiquitin chain assembly complex stabilizes the TNF-R1 signaling complex and is required for TNF-mediated gene induction. (PubMed id 20005846)1, 2 Haas T.L.... Walczak H. (Mol. Cell 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. (J. Biol. Chem. 2007)
    7. A ubiquitin ligase complex assembles linear polyubiquitin chains. (PubMed id 17006537)1, 2 Kirisako T.... Iwai K. (EMBO J. 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. (Mol. Cell. Proteomics 2005)
    9. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10616 HGNC: 15864 AceView: C20orf18 Ensembl:ENSG00000125826 euGenes: HUgn10616
    ECgene: RBCK1 H-InvDB: RBCK1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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