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FBXO6 Gene

protein-coding   GIFtS: 54
GCID: GC01P011724

F-Box Protein 6

(Previous name: F-box only protein 6)
  See related disease
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
F-Box Protein 61 2     F-Box Protein That Recognizes Sugar Chains 22 3
FBG22 3 5     F-Box/G-Domain Protein 22 3
FBX62 3 5     Fbx6b2
F-Box Only Protein 61 2     F-Box Protein FBG22
FBS22 3     F-Box Protein Fbx62

External Ids:    HGNC: 135851   Entrez Gene: 262702   Ensembl: ENSG000001166637   OMIM: 6056475   UniProtKB: Q9NRD13   

Export aliases for FBXO6 gene to outside databases

Previous GC identifers: GC01P011685 GC01P011567 GC01P011333 GC01P011433 GC01P011658 GC01P010879


(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 FBXO6 Gene:
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid
motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex
called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins
are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs
containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by
this gene belongs to the Fbxs class, and its C-terminal region is highly similar to that of rat NFB42 (neural F
Box 42 kDa) which may be involved in the control of the cell cycle. (provided by RefSeq, Jul 2008)

GeneCards Summary for FBXO6 Gene:
FBXO6 (F-box protein 6) is a protein-coding gene. Diseases associated with FBXO6 include neuroblastoma. GO annotations related to this gene include ubiquitin-protein ligase activity and glycoprotein binding. An important paralog of this gene is FBXO17.

UniProtKB/Swiss-Prot: FBX6_HUMAN, Q9NRD1
Function: Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase
complexes. Involved in endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins
by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranlocated into the cytosol and
promoting their ubiquitination and subsequent degradation. Able to recognize and bind denatured glycoproteins,
which are modified with not only high-mannose but also complex-type oligosaccharides. Also recognizes sulfated
glycans. Also involved in DNA damage response by specifically recognizing activated CHEK1 (phosphorylated on
'Ser-345'), promoting its ubiquitination and degradation. Ubiquitination of CHEK1 is required to insure that
activated CHEK1 does not accumulate as cells progress through S phase, or when replication forks encounter
transient impediments during normal DNA replication

Gene Wiki entry for FBXO6 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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBXO6 gene promoter:
         Max1   Elk-1   Olf-1   Pax-2   AP-4   Pax-2a   Nkx2-5   PPAR-alpha   Pax-3   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXO6 promoter sequence
   Search Chromatin IP Primers for FBXO6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXO6


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

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

FBXO6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXO6 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P011724:  view genomic region     (about GC identifiers)

Start:
11,724,150 bp from pter      End:
11,734,411 bp from pter
Size:
10,262 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FBX6_HUMAN, Q9NRD1 (See protein sequence)
Recommended Name: F-box only protein 6  
Size: 293 amino acids; 33933 Da
Subunit: Interacts with VCP (By similarity). Part of a SCF (SKP1-cullin-F-box) protein ligase complex. Interacts
with CHEK1 and CUL1
Sequence caution: Sequence=AAF04470.1; Type=Erroneous initiation; Sequence=CAI20215.1; Type=Erroneous gene model
prediction;
Secondary accessions: B1AK42 B2RC88 Q9UKT3

Explore the universe of human proteins at neXtProt for FBXO6: NX_Q9NRD1

Explore proteomics data for FBXO6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FBXO6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060908.1  
    ENSEMBL proteins: 
     ENSP00000365944   ENSP00000388781  
    Reactome Protein details: Q9NRD1

    FBXO6 Human Recombinant Protein Products:

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    Novus Biologicals FBXO6 Proteins
    Novus Biologicals FBXO6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for FBXO6
    Cloud-Clone Corp. Proteins for FBXO6

    FBXO6 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    Search for Antibodies for FBXO6 at Abcam
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    ThermoFisher Antibodies for FBXO6
    LSBio Antibodies in human, mouse, rat for FBXO6

    FBXO6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for FBXO6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FBXO6
    Cloud-Clone Corp. CLIAs for FBXO6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FBXO: F-boxes / "other"

    3 InterPro protein domains:
     IPR007397 F-box-assoc_dom
     IPR008979 Galactose-bd-like
     IPR001810 F-box_dom

    Graphical View of Domain Structure for InterPro Entry Q9NRD1

    ProtoNet protein and cluster: Q9NRD1

    1 Blocks protein domain: IPB007397 F-box associated region

    UniProtKB/Swiss-Prot: FBX6_HUMAN, Q9NRD1
    Similarity: Contains 1 F-box domain
    Similarity: Contains 1 FBA (F-box associated) domain


    FBXO6 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: FBX6_HUMAN, Q9NRD1
    Function: Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase
    complexes. Involved in endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins
    by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranlocated into the cytosol and
    promoting their ubiquitination and subsequent degradation. Able to recognize and bind denatured glycoproteins,
    which are modified with not only high-mannose but also complex-type oligosaccharides. Also recognizes sulfated
    glycans. Also involved in DNA damage response by specifically recognizing activated CHEK1 (phosphorylated on
    'Ser-345'), promoting its ubiquitination and degradation. Ubiquitination of CHEK1 is required to insure that
    activated CHEK1 does not accumulate as cells progress through S phase, or when replication forks encounter
    transient impediments during normal DNA replication

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding ISS--
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding IPI19716789
    GO:0030246carbohydrate binding IEA--
         
    FBXO6 for ontologies           About GeneDecksing


    Phenotypes:
         11 GenomeRNAi human phenotypes for FBXO6:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica  
     Decreased Salmonella enterica   Decreased Salmonella-containin  Decreased cilium length after   Increased G1 DNA content 
     Increased cell death HMECs cel  Increased cell size  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FBXO6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FBXO6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FBXO6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FBXO6

    miRNA
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    Block miRNA regulation of human, mouse, rat FBXO6 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate FBXO6:
    hsa-miR-3116 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidFBXO6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FBXO6
    Predesigned siRNA for gene silencing in human, mouse, rat FBXO6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FBXO6

    Clone
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    OriGene clones in human, mouse for FBXO6 (see all 7)
    OriGene ORF clones in mouse, rat for FBXO6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FBXO6 (NM_018438)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBXO6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBXO6

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for FBXO6
    Browse ESI BIO Cell Lines and PureStem Progenitors for FBXO6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXO6


    (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
    FBX6_HUMAN, Q9NRD1: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA19716789
    GO:0019005SCF ubiquitin ligase complex IDA19716789

    FBXO6 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 FBXO6 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
    2Protein folding
    Chaperonin-mediated protein folding0.91
    Association of TriC/CCT with target proteins during biosynthesis0.58
    Protein folding0.91
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for FBXO6
        Association of TriC/CCT with target proteins during biosynthesis
    Antigen processing: Ubiquitination & Proteasome degradation


    1 Kegg Pathway  (Kegg details for FBXO6):
        Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: FBX6_HUMAN, Q9NRD1
    Pathway: Protein modification; protein ubiquitination


    FBXO6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FBXO6: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Unfolded Protein Response in human mouse rat
              Ubiquitin Ligases in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for FBXO6

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

    Selected Interacting proteins for FBXO6 (Q9NRD12, 3 ENSP000003659444) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL1Q136162, 3, ENSP000003268044MINT-8399502 I2D: score=1 STRING: ENSP00000326804
    RBX1P628773, ENSP000002162254I2D: score=1 STRING: ENSP00000216225
    VCPP550723, ENSP000003517774I2D: score=1 STRING: ENSP00000351777
    SKP1P632083, ENSP000002314874I2D: score=3 STRING: ENSP00000231487
    DLG4P783523I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000077DNA damage checkpoint TAS19716789
    GO:0006281DNA repair TAS19716789
    GO:0006508proteolysis TAS10531035
    GO:0006516glycoprotein catabolic process IEA--
    GO:0006986response to unfolded protein IEA--

    FBXO6 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 FBXO6 (FBX6)



    (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,
    Conferences by KenesGroup, 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 FBXO6 gene: 
    NM_018438.5  

    Unigene Cluster for FBXO6:

    F-box protein 6
    Hs.464419  [show with all ESTs]
    Unigene Representative Sequence: NM_018438
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376753(uc001aso.3) ENST00000474239 ENST00000449067
    miRNA
    Products:
         
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    2 qRT-PCR Assays for microRNAs that regulate FBXO6:
    hsa-miR-3116 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidFBXO6 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FBXO6
    Predesigned siRNA for gene silencing in human, mouse, rat FBXO6
    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: FBXO6 (NM_018438)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBXO6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBXO6
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FBXO6
      QuantiTect SYBR Green Assays in human, mouse, rat FBXO6
      QuantiFast Probe-based Assays in human, mouse, rat FBXO6

    Additional mRNA sequence: 

    AF129536.1 AF233223.1 AK314989.1 BC020880.1 

    3 DOTS entries:

    DT.108367  DT.121407587  DT.97763652 

    Selected AceView cDNA sequences (see all 49):

    BC020880 BQ679204 AF233223 BQ019301 BU521777 BE384888 BU616015 BU631452 
    BQ185942 CA423504 AI188162 BE728770 BG339115 BX400452 BU185709 AA167629 
    NM_018438 CA423571 CD364787 AI341548 BQ184245 BM564022 BU149504 AW070815 

    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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    FBXO6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGTGGGCAG
    FBXO6 Expression
    About this image

    FBXO6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBXO6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.464419
        Pathway & Disease-focused RT2 Profiler PCR Arrays including FBXO6: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Unfolded Protein Response in human mouse rat
              Ubiquitin Ligases in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FBXO6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FBXO6
    QuantiTect SYBR Green Assays in human, mouse, rat FBXO6
    QuantiFast Probe-based Assays in human, mouse, rat FBXO6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXO6

    (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 FBXO6 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxo61 , 5 F-box protein 61, 5 78.75(n)1
    75.19(a)1
      4 (78.67 cM)5
    507621  NM_001163704.11  NP_001157176.11 
     1481457165 
    chicken
    (Gallus gallus)
    Aves FBXO61 F-box protein 6 63.4(n)
    58.11(a)
      419494  XM_417649.4  XP_417649.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    48(a)
    36(a)
    many ↔ many
    many ↔ many
    AAWZ02039643(21-7768)
    GL343881.1(119100-128618)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fbxo61 F-box protein 6 54.39(n)
    52.63(a)
      100494477  XM_004916126.1  XP_004916183.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1735701 zgc:173570 50.2(n)
    44.58(a)
      570101  NM_001111202.1  NP_001104672.1 


    ENSEMBL Gene Tree for FBXO6 (if available)
    TreeFam Gene Tree for FBXO6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBXO6 gene
    FBXO172  FBXO272  FBXO22  FBXO442  NCCRP12  
    3 SIMAP similar genes for FBXO6 using alignment to 2 protein entries:     FBX6_HUMAN (see all proteins):
    FBXO44    FBXO2    FBXO27

    FBXO6 for paralogs           About GeneDecksing



    (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 FBXO6 (see all 298)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs31258141,2
    C,A--11723885(-) ATATAT/CAAAAA 1 -- us2k13Minor allele frequency- C:0.00NA 6
    rs1882401971,2
    --11723920(+) TGTTGA/GCCAGG 1 -- us2k10--------
    rs1155477081,2
    F--11724006(+) CACCTC/TCTAGC 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1820637141,2
    --11724007(+) ACCTCC/TTAGCA 1 -- us2k10--------
    rs31258131,2
    C,F--11724092(-) CAGGAG/CCTGAC 1 -- us2k112Minor allele frequency- C:0.46NA WA CSA EA 375
    rs782737181,2
    C,F--11724161(+) TAGTGC/TGGAGG 1 -- ut512Minor allele frequency- T:0.02WA 120
    rs1477715341,2
    --11724555(+) GAGCCC/TGCGGG 1 -- int10--------
    rs1491372571,2
    C--11724583(+) GGGGT-/GGGGGG 1 -- int10--------
    rs557069021,2
    C,F--11724708(+) AGAACT/CGTCAA 1 -- int14Minor allele frequency- C:0.15NA EA 244
    rs1849193261,2
    --11724712(+) CTGTCA/GAGGGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for FBXO6 (11724150 - 11734411 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FBXO6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832758CNV Loss17160897
    nsv871850CNV Loss21882294
    dgv139n71CNV Loss21882294
    nsv871014CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605647    OMIM disorders: --

    1 disease for FBXO6:    About MalaCards
    neuroblastoma


    FBXO6 for disorders           About GeneDecksing


    Export disorders for FBXO6 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 FBXO6 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with FBXO6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and expression analysis of new members of the mammalian F-box protein family. (PubMed id 10945468)1, 2, 3, 9 Ilyin G.P.... Guguen-Guillouzo C. (Genomics 2000)
    2. Identification of a family of human F-box proteins. (PubMed id 10531035)1, 2, 3 Cenciarelli C....Pagano M. (Curr. Biol. 1999)
    3. Diversity in tissue expression, substrate binding, and SCF complex formation for a lectin family of ubiquitin ligases. (PubMed id 18203720)1, 2, 9 Glenn K.A.... Paulson H.L. (J. Biol. Chem. 2008)
    4. The F box protein Fbx6 regulates Chk1 stability and cellular sensitivity to replication stress. (PubMed id 19716789)1, 2 Zhang Y.-W.... Hunter T. (Mol. Cell 2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. 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)
    7. A new subfamily of structurally related human F-box proteins. (PubMed id 12383498)1, 9 Ilyin G.P....Guguen-Guillouzo C. (Gene 2002)
    8. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    9. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    10. A shared endoplasmic reticulum-associated degradation pathway involving the EDEM1 protein for glycosylated and nonglycosylated proteins. (PubMed id 23233672)1 Shenkman M....Lederkremer G.Z. (J. Biol. Chem. 2013)

    (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: 26270 HGNC: 13585 AceView: FBXO6 Ensembl:ENSG00000116663 euGenes: HUgn26270
    ECgene: FBXO6 Kegg: 26270 H-InvDB: FBXO6

    (According to HUGE)
    About This Section

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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 FBXO6 Pharmacogenomics, SNPs, Pathways
    Functional Glycomics Gateway - Glycan Bindinghttp://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_other_821

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FBXO6 gene:
    Search GeneIP for patents involving FBXO6

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



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