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RBX1 Gene

protein-coding   GIFtS: 65
GCID: GC22P041347

Ring-Box 1, E3 Ubiquitin Protein Ligase

(Previous name: ring-box 1)
  See 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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ring-Box 1, E3 Ubiquitin Protein Ligase1 2     BA554C12.12
Regulator Of Cullins 11 2 3     E3 Ubiquitin-Protein Ligase RBX12
ROC12 3 5     RING Box Protein 12
RNF752 3     ZYP Protein2
RING Finger Protein 752 3     EC 6.3.2.-3
RING-Box Protein 12 3     Rbx13
Ring-Box 11     Protein ZYP3

External Ids:    HGNC: 99281   Entrez Gene: 99782   Ensembl: ENSG000001003877   OMIM: 6038145   UniProtKB: P628773   
ORGUL members:         

Export aliases for RBX1 gene to outside databases

Previous GC identifers: GC22P037961 GC22P039590 GC22P039671 GC22P024308


(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 RBX1 Gene:
This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin
proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein
may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.(provided by RefSeq, Sep 2010)

GeneCards Summary for RBX1 Gene:
RBX1 (ring-box 1, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with RBX1 include 3-m syndrome, and invasive bladder transitional cell carcinoma. GO annotations related to this gene include ubiquitin-protein ligase activity and protein complex binding. An important paralog of this gene is RNF7.

UniProtKB/Swiss-Prot: RBX1_HUMAN, P62877
Function: E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which
mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved
in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision
repair. The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate
recognition components. As a component of the CSA complex promotes the ubiquitination of ERCC6 resulting in
proteasomal degradation. Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme, like
CDC34, to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34
autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and
for subsequent DNA repair. Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M.
Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and CUL3, promotes degradation of
KAT5 thereby attenuating its ability to acetylate and activate ATM

Gene Wiki entry for RBX1 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:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBX1 gene promoter:
         HOXA9   AhR   Pax-3   AML1a   p53   Arnt   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBX1 promoter sequence
   Search Chromatin IP Primers for RBX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBX1


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

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

RBX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBX1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P041347:  view genomic region     (about GC identifiers)

Start:
41,347,351 bp from pter      End:
41,369,313 bp from pter
Size:
21,963 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: RBX1_HUMAN, P62877 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RBX1  
Size: 108 amino acids; 12274 Da
Subunit: Part of a SCF complex consisting of CUL1, RBX1, SKP1 and SKP2. Part of a SCF-like complex consisting of
CUL7, RBX1, SKP1 and FBXW8. Part of CBC(VHL) complexes with elongin BC complex (TCEB1 and TCEB2), CUL2 or CUL5
and VHL. Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing
ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts
with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Part of
multisubunit E3 ubiquitin ligase complexes with elongin BC complex (TCEB1 and TCEB2), CUL2 and MED8; elongin BC
complex (TCEB1 and TCEB2), CUL5 and MUF1. Part of multisubunit complexes with elongin BC complex (TCEB1 and
TCEB2), elongin A/TCEB3 or SOCS1 or WSB1 and CUL5. Interacts directly with CUL1 and probably also with CUL2,
CUL3, CUL4A, CUL4B, CUL5 and CUL7. Probably interacts with CDC34. Interacts with COPS6. Component of the DCX
DET1-COP1 ubiquitin ligase complex at least composed of RBX1, DET1, DDB1, CUL4A and COP1. Part of an E3 ligase
complex composed of RBX1, DDB1, DDB2 and CUL4A or CUL4B. Interacts with UBE2M. Part of a SCF complex consisting
of CUL1, FBXO3, RBX1 and SKP1; this complex interacts with PML via FBXO3. Interacts with human adenovirus early
E1A protein; this interaction inhibits RBX1-CUL1-dependent elongation reaction of ubiquitin chains by the
SCF(FBW7) complex. Component of the SCF(Cyclin F) complex consisting of CUL1, RBX1, SKP1 and CCNF. Identified in
a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex together with HINT1 and CDC34. Component of multiple
BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes formed of CUL3, RBX1 and a variable BTB
domain-containing protein. Part of the BCR(ENC1) complex containing ENC1. Part of the BCR(GAN) complex containing
GAN. Part of the BCR(KLHL41) complex containing KLHL41. Part of the BCR(KEAP1) complex containing KEAP1
Sequence caution: Sequence=AAH17370.2; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for RBX1 (see all 9):
1LDJ (3D)        1LDK (3D)        1U6G (3D)        2HYE (3D)        2LGV (3D)        3DPL (3D)    
Secondary accessions: B2RDY1 Q8N6Z8 Q9D1S2 Q9WUK9 Q9Y254

Explore the universe of human proteins at neXtProt for RBX1: NX_P62877

Explore proteomics data for RBX1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys19, Lys20, Lys105
  • Modification sites at PhosphoSitePlus

  • See RBX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055063.1  
    ENSEMBL proteins: 
     ENSP00000216225  
    Reactome Protein details: P62877

    RBX1 Human Recombinant Protein Products:

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    Novus Biologicals RBX1 Protein
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    Cloud-Clone Corp. Proteins for RBX1

    RBX1 Antibody Products:

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    RBX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for RBX1
    Cloud-Clone Corp. CLIAs for RBX1


    (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

    3 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR024766 Znf_RING_H2

    Graphical View of Domain Structure for InterPro Entry P62877

    ProtoNet protein and cluster: P62877

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: RBX1_HUMAN, P62877
    Domain: The RING-type zinc finger domain is essential for ubiquitin ligase activity. It coordinates an additional
    third zinc ion
    Similarity: Belongs to the RING-box family
    Similarity: Contains 1 RING-type zinc finger


    RBX1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBX1_HUMAN, P62877
    Function: E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which
    mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved
    in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision
    repair. The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate
    recognition components. As a component of the CSA complex promotes the ubiquitination of ERCC6 resulting in
    proteasomal degradation. Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme, like
    CDC34, to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34
    autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and
    for subsequent DNA repair. Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M.
    Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and CUL3, promotes degradation of
    KAT5 thereby attenuating its ability to acetylate and activate ATM

         Genatlas biochemistry entry for RBX1:
    ring-box 1

         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:0004842contributes to ubiquitin-protein ligase activity IDA15983046
    GO:0005515protein binding IPI11961546
    GO:0008270zinc ion binding IEA--
    GO:0019788NEDD8 ligase activity IDA19250909
    GO:0031625ubiquitin protein ligase binding IDA17636018
         
    RBX1 for ontologies           About GeneDecksing


    Phenotypes:
         10 GenomeRNAi human phenotypes for RBX1:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica  
     Decreased Salmonella enterica   Decreased Salmonella-containin  Decreased viability of wild-ty  Increased cell death in HCC-19 
     Increased cell death in breast  Increased circadian period len 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rbx1):
     cellular  embryogenesis  growth/size/body  mortality/aging 

    RBX1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RBX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBX1

    miRNA
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    miRTarBase miRNAs that target RBX1:
    hsa-mir-92a-3p (MIRT049206)

    Block miRNA regulation of human, mouse, rat RBX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBX1 (see all 12):
    hsa-miR-100* hsa-miR-495 hsa-miR-7-2* hsa-miR-135b hsa-miR-338-5p hsa-miR-7-1* hsa-miR-514 hsa-miR-194
    SwitchGear 3'UTR luciferase reporter plasmidRBX1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RBX1
    Predesigned siRNA for gene silencing in human, mouse, rat RBX1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for RBX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RBX1 (NM_014248)
    Sino Biological Human cDNA Clone for RBX1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBX1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for RBX1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBX1


    (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 UniProtKB/Swiss-Prot
    RBX1_HUMAN, P62877: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    extracellular3

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--
    GO:0019005SCF ubiquitin ligase complex ISS--
    GO:0030891VCB complex IEA--
    GO:0031461cullin-RING ubiquitin ligase complex IDA--

    RBX1 for ontologies           About GeneDecksing


    (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 RBX1 About   (see all 33)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    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
    Ubiquitin mediated proteolysis0.35
    2Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH10.79
    NOTCH1 Intracellular Domain Regulates Transcription0.68
    3Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen1.00
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha0.00
    Cellular response to hypoxia1.00
    4HIV Life Cycle
    HIV Infection0.62
    Host Interactions of HIV factors0.60
    5TGF-Beta Pathway
    JAK-STAT Pathway0.57
    SOCS Pathway0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RBX1
        HIF1Alpha Pathway
    JAK-STAT Pathway
    SOCS Pathway

    1 Cell Signaling Technology (CST) Pathway for RBX1
        Protein Stability

    5 GeneGo (Thomson Reuters) Pathways for RBX1
        Cell cycle ESR1 regulation of G1/S transition
    Cell cycle Regulation of G1/S transition (part 1)
    Proteolysis Putative ubiquitin pathway
    Cell cycle Role of SCF complex in cell cycle regulation
    Immune response MIF-JAB1 signaling

    3 BioSystems Pathways for RBX1
        TGF-beta Receptor Signaling Pathway
    Delta-Notch Signaling Pathway
    Hypoxic and oxygen homeostasis regulation of HIF-1-alpha


    Selected Reactome Pathways for RBX1 (see all 10)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
    Prolactin receptor signaling
    Interleukin-1 signaling


    Selected Kegg Pathways  (Kegg details for RBX1) (see all 11):
        Nucleotide excision repair
    HIF-1 signaling pathway
    Cell cycle
    Oocyte meiosis
    Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: RBX1_HUMAN, P62877
    Pathway: Protein modification; protein ubiquitination


    RBX1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including RBX1: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RBX1

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

    Selected Interacting proteins for RBX1 (P628771, 2, 3 ENSP000002162254) via UniProtKB, MINT, STRING, and/or I2D (see all 395)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IEA--
    GO:0006513protein monoubiquitination IDA--
    GO:0007219Notch signaling pathway TAS--
    GO:0016032viral process TAS--
    GO:0016567protein ubiquitination IDA15103331

    RBX1 for ontologies           About GeneDecksing



    (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 RBX1

    3 Novoseek inferred chemical compound relationships for RBX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 42.6 1 18368307 (1)
    steroid 0 3 9710597 (1), 16874068 (1), 9205114 (1)
    leucine 0 1 12615916 (1)



    RBX1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RBX1 gene: 
    NM_014248.3  

    Unigene Cluster for RBX1:

    Ring-box 1, E3 ubiquitin protein ligase
    Hs.474949  [show with all ESTs]
    Unigene Representative Sequence: BU155800
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476110 ENST00000216225(uc003azk.3) ENST00000467617
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RBX1 (see all 12):
    hsa-miR-100* hsa-miR-495 hsa-miR-7-2* hsa-miR-135b hsa-miR-338-5p hsa-miR-7-1* hsa-miR-514 hsa-miR-194
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      QuantiFast Probe-based Assays in human, mouse, rat RBX1

    Additional mRNA sequence: 

    AF085906.1 AF140598.1 AF142059.1 AK315722.1 AY099360.1 BC001466.2 BC017370.1 CR456560.1 

    12 DOTS entries:

    DT.99988559  DT.91760128  DT.100825475  DT.91751456  DT.120645894  DT.95124659  DT.95124675  DT.75152194 
    DT.97809928  DT.100037803  DT.120645905  DT.95300188 

    Selected AceView cDNA sequences (see all 305):

    BM911843 BU507446 AI140018 BF512968 BU169268 BM667060 BC001466 W73052 
    BM670693 AF085906 AI310807 AW161957 AA658037 AF142059 NM_014248 BM757406 
    D52876 BG054985 BU729543 BM452435 BM697883 AA524092 BQ670844 BG478622 

    GeneLoc Exon Structure


    (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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    RBX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTCACTT
    RBX1 Expression
    About this image

    RBX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474949

    UniProtKB/Swiss-Prot: RBX1_HUMAN, P62877
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including RBX1: 
              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 eukaryotes.

    Orthologs for RBX1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbx15
    Gm98401
    ring-box 15
    predicted gene 98401
    91.98(n)1
    98.15(a)1
      15 (38.11 cM)5
    1000436741  XM_006525232.11  XP_006525295.11 
     814663165 
    chicken
    (Gallus gallus)
    Aves RBX11 ring-box 1, E3 ubiquitin protein ligase 87.35(n)
    100(a)
      418001  NM_001199250.1  NP_001186179.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBX16
    ring-box 1, E3 ubiquitin protein ligase
    99(a)
    1 ↔ 1
    5(26051993-26057350)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ621900.12   -- 81.6(n)    BJ621900.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AI106413.12   -- 82.74(n)    AI106413.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Roc1a1 , 3 smoothened receptor signaling pathway3
    Roc1a1
    71(a)
    (best of 2)3
    78.67(n)1
    92(a)1
      1B133
    310141  NM_130496.31  NP_569852.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rbx-11 rbx-1 72.9(n)
    82.24(a)
      179358  NM_073095.5  NP_505496.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HRT1(YOL133W)4 RING finger containing subunit of Skp1-Cullin-F-box more   --   15(70325-70690) 853986  NP_014508.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RBX11 RBX1 71.67(n)
    87(a)
      832179  NM_001161253.1  NP_001154725.1 
    rice
    (Oryza sativa)
    Liliopsida Os.205212 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 80.92(n)    AK099287.1 


    ENSEMBL Gene Tree for RBX1 (if available)
    TreeFam Gene Tree for RBX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBX1 gene
    RNF72  
    2 SIMAP similar genes for RBX1 using alignment to 1 protein entry:     RBX1_HUMAN:
    RNF7    ANAPC11

    RBX1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RBX1
    PGOHUM00000240695 PGOHUM00000235674


    (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 RBX1 (see all 392)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1894705221,2
    --41345587(+) CTTTCC/TCTTTT 1 -- us2k10--------
    rs1494170361,2
    C--41345603(+) TTTTTC/TTGGGG 1 -- us2k10--------
    rs1815815011,2
    --41345604(+) TTTTTG/TGGGGG 1 -- us2k10--------
    rs1871238261,2
    --41345776(+) TAGTAA/GGGACG 1 -- us2k10--------
    rs59959681,2
    C,F,A--41345806(+) aggctG/Agtctc 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1430806861,2
    --41345814(+) CTCAAA/TCTCCT 1 -- us2k10--------
    rs1460494591,2
    --41345988(+) TCTAAC/GAGTGC 1 -- us2k10--------
    rs584575761,2
    C--41346225(+) AAAAG-/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1400283611,2
    C--41346252(+) GCACTG/TTGGGA 1 -- us2k10--------
    rs1894937131,2
    --41346543(+) GGTTTA/CACTAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RBX1 (41347351 - 41369313 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RBX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428389CNV Loss18775914

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBX1
    DNA2.0 Custom Variant and Variant Library Synthesis for RBX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603814    OMIM disorders: --

    Selected diseases for RBX1 (see all 37):    
    About MalaCards
    3-m syndrome    invasive bladder transitional cell carcinoma    glomuvenous malformation    mulibrey nanism
    skin melanoma    von hippel-lindau disease    smith magenis syndrome    kidney cancer
    renal clear cell carcinoma    cockayne syndrome    bladder transitional cell carcinoma    xeroderma pigmentosum
    gout    amyloidosis    retinitis pigmentosa    diffuse large b-cell lymphoma
    b-cell lymphomas    thyroid cancer    transitional cell carcinoma    hypoxia


    RBX1 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for RBX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    smith-magenis syndrome 68.5 1 9615224 (1)
    carcinoma renal cell 30.2 1 11526493 (1)
    promyelocytic leukemia 27.9 1 12837286 (1)
    tumors 6.74 5 19509229 (2), 9452416 (1), 10648623 (1)
    necrosis 0 2 10648623 (1), 7639698 (1)
    breast cancer 0 1 19536326 (1)
    mental retardation 0 1 9615224 (1)
    cancer 0 5 19509229 (3), 17296600 (1), 19818716 (1)


    Export disorders for RBX1 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 RBX1 gene, integrated from 10 sources (see all 341):
    (articles sorted by number of sources associating them with RBX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ROC1, a homolog of APC11, represents a family of cullin partners with an associated ubiquitin ligase activity. (PubMed id 10230407)1, 2, 3, 9 Ohta T.... Xiong Y. (Mol. Cell 1999)
    2. Rbx1, a component of the VHL tumor suppressor complex and SCF ubiquitin ligase. (PubMed id 10213691)1, 2, 3 Kamura T.... Conaway J.W. (Science 1999)
    3. The CUL1 C-terminal sequence and ROC1 are required for efficient nuclear accumulation, NEDD8 modification, and ubiquitin ligase activity of CUL1. (PubMed id 11027288)1, 2, 9 Furukawa M.... Xiong Y. (Mol. Cell. Biol. 2000)
    4. Human De-etiolated-1 regulates c-Jun by assembling a CUL4A ubiquitin ligase. (PubMed id 14739464)1, 2, 9 Wertz I.E.... Dixit V.M. (Science 2004)
    5. CUL7: a DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex. (PubMed id 12481031)1, 2, 9 Dias D.C.... Pan Z.Q. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. E2-RING expansion of the NEDD8 cascade confers specificity to cullin modification. (PubMed id 19250909)1, 2, 9 Huang D.T....Schulman B.A. (Mol. Cell 2009)
    7. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. (PubMed id 12732143)1, 2, 9 Groisman R.... Nakatani Y. (Cell 2003)
    8. SCF(Cyclin F) controls centrosome homeostasis and mitotic fidelity through CP110 degradation. (PubMed id 20596027)1, 2 D'Angiolella V.... Pagano M. (Nature 2010)
    9. Histidine triad nucleotide-binding protein 1 up-regulates cellular levels of p27KIP1 by targeting ScfSKP2 ubiquitin ligase and Src. (PubMed id 19112177)1, 2 Cen B.... Weinstein I.B. (J. Biol. Chem. 2009)
    10. PML activates transcription by protecting HIPK2 and p300 from SCFFbx3-mediated degradation. (PubMed id 18809579)1, 2 Shima Y....Kitabayashi I. (Mol. Cell. Biol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 9978 HGNC: 9928 AceView: RBX1 Ensembl:ENSG00000100387 euGenes: HUgn9978
    ECgene: RBX1 Kegg: 9978 H-InvDB: RBX1

    (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)
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    NameDescription
    PharmGKB entry for RBX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBX1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RBX1 gene:
    Search GeneIP for patents involving RBX1

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



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