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

FBXO46 Gene

protein-coding   GIFtS: 43
GCID: GC19M046213

F-box protein 46

(Previous name: F-box only protein 34-like )
(Previous symbol: FBXO34L)
 Explore 1 disease affiliated with
FBXO46 via our new
 Human Malady Compendium 
Biological research products
for FBXO46
    

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

Aliases
F-Box Protein 461 2     F-Box Only Protein 34-Like1 3
FBXO34L1 2 3     FBX463 5
20D7-FC41 2     F-Box Only Protein 462
Fbx461 2     

External Ids:    HGNC: 250691   Entrez Gene: 234032   Ensembl: ENSG000001770517   OMIM: 6091175   UniProtKB: Q6PJ613   

Export aliases for FBXO46 gene to outside databases

Previous GC identifers: GC19M050906 GC19M042642


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

Entrez Gene summary for FBXO46:
Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif.
SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as
protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination
targets through other protein interaction domains (Jin et al., 2004 (PubMed 15520277)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: FBX46_HUMAN, Q6PJ61
Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (By
similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBXO46 gene promoter:
         STAT1   Pax-5   AML1a   RREB-1   STAT1beta   CUTL1   Arnt   STAT1alpha   GATA-1   c-Myb   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FBXO46

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXO46


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

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.3

FBXO46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXO46 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M046213:  view genomic region     (about GC identifiers)

Start:
46,213,887 bp from pter      End:
46,234,162 bp from pter
Size:
20,276 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: FBX46_HUMAN, Q6PJ61 (See protein sequence)
Recommended Name: F-box only protein 46  
Size: 603 amino acids; 64631 Da
Subunit: Interacts with SKP1 and CUL1 (By similarity)
Caution: The region from 1 to 163 was deduced from the genomic sequence and ESTs by similarity to the mouse sequence
Sequence caution: Sequence=AAH21978.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH21978.1; Type=Erroneous termination; Positions=604; Note=Translated as stop;

Explore the universe of human proteins at neXtProt for FBXO46: NX_Q6PJ61

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6PJ61

  • FBXO46 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001073938.1  
    ENSEMBL proteins: 
     ENSP00000410007   ENSP00000468336   ENSP00000465591  

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

    FBXO46 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001810 F-box_dom_cyclin-like

    Graphical View of Domain Structure for InterPro Entry Q6PJ61

    ProtoNet protein and cluster: Q6PJ61

    UniProtKB/Swiss-Prot: FBX46_HUMAN, Q6PJ61
    Similarity: Contains 1 F-box domain


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

    Function Summary:

         UniProtKB/Swiss-Prot: FBX46_HUMAN, Q6PJ61
    Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (By
    similarity)

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    FBXO46 for ontologies           About GeneDecksing



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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FBXO46

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for FBXO46 (Q6PJ611, 3 ENSP000004100074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SKP1P632081, 3, ENSP000002314874EBI-2322982,EBI-307486 I2D: score=1 STRING: ENSP00000231487
    COPS5Q929053, ENSP000003505124I2D: score=1 STRING: ENSP00000350512
    About this table

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

    Browse Tocris compounds for FBXO46
    Search CenterWatch for drugs/clinical trials and news about FBXO46 / FBX46 

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

    REFSEQ mRNAs for FBXO46 gene: 
    NM_001080469.1  

    Unigene Cluster for FBXO46:

    F-box protein 46
    Hs.128702  [show with all ESTs]
    Unigene Representative Sequence: NM_001080469
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000317683(uc002pcy.3 uc002pcz.3) ENST00000586899 ENST00000591686


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    hsa-miR-185* hsa-miR-513a-5p hsa-miR-340 hsa-miR-520a-5p hsa-miR-3190 hsa-miR-342-5p hsa-miR-22 hsa-miR-2114
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    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    Additional cDNA sequence: 

    BC008046.2 BC013570.1 BC021978.2 BC046245.1 Y10936.1 

    2 DOTS entries:

    DT.99990265  DT.86851596 

    24/103 AceView cDNA sequences (see all 103):

    BF514588 BQ068066 BC013570 CA946698 AL042641 BF514261 AA035310 AA035309 
    BE880418 BF514285 AI341533 CR594072 BE674624 AW236767 AW301578 BM978032 
    BF116252 AW513922 AA809890 AI912656 BX102002 BE349580 AL042642 AI273288 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FBXO46 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTCTTTAAG

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

    About this image
    See FBXO46 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBXO46

    SOURCE GeneReport for Unigene cluster: Hs.128702
        SABiosciences Custom PCR Arrays for FBXO46
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXO46

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

    This gene was present in the common ancestor of chordates.

    Orthologs for FBXO46 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxo461 , 5 F-box protein 461, 5 83.47(n)1
    91.38(a)1
      7 (9.46 cM)5
    2438671  NM_175530.31  NP_780739.11 
     191198595 
    lizard
    (Anolis carolinensis)
    Reptilia FBXO466
    --
    61(a)
    1 ↔ 1
    AAWZ02037989(1972-3984)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.129662 Xenopus laevis transcribed sequence with weak similarity more 73.98(n)    BJ097782.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-114g7.41 si:dkey-114g7.4 60.25(n)
    58.83(a)
      562515  NM_001082831.1  NP_001076300.1 


    ENSEMBL Gene Tree for FBXO46 (if available)
    TreeFam Gene Tree for FBXO46 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBXO46 gene
    FBXO342  

    FBXO46 for paralogs           About GeneDecksing



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

    10/334 NCBI SNPs in FBXO46 are shown (see all 334    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs621117311,2
    C,--46213416(+) GAGGCG/AGAGCT 1 -- ds50015Minor allele frequency- A:0.11NA WA CSA 9
    rs762421661,2
    C,F,--46213538(+) ACCTGT/CAGAAA 1 -- ds50011Minor allele frequency- C:0.38EA 120
    rs346741601,2
    C,F,--46213550(+) CCCAGC/TTGCTT 1 -- ds50017Minor allele frequency- T:0.05NA WA CSA 248
    rs575436331,2
    C,F,--46213552(+) CAGCTG/TCTTGG 1 -- ds50015Minor allele frequency- T:0.14NA WA CSA EA 246
    rs1870797961,2
    --46213600(+) TGCTGC/TAGTGA 1 -- ds50010--------
    rs1914686921,2
    --46213782(+) CTAGGA/GATCCC 1 -- ds50010--------
    rs1442092741,2
    --46213859(+) CTTCAC/TAACAC 1 -- ds50010--------
    rs1465335491,2
    --46213917(+) GACCAA/GTTCAA 1 -- ut310--------
    rs1409345051,2
    --46213994(+) AAACAA/GAGAGA 1 -- ut310--------
    rs1834021921,2
    --46214019(+) CCCAGA/TCCAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FBXO46 (46213887 - 46234162 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FBXO46
         1 Indel: 73387

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

    FBXO46 for disorders           About GeneDecksing

    OMIM gene information: 609117    OMIM disorders: --

    1 disease for FBXO46:    About MalaCards
    myotonic dystrophy


    Export disorders for FBXO46 gene to outside databases

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

    PubMed articles for FBXO46 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with FBXO46)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat. (PubMed id 9585442)1, 3 Alwazzan M.... Brook J.D. (1998)
    3. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (2012)
    4. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    5. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    6. Array MAPPIT: high-throughput interactome analysis in mammalian cells. (PubMed id 19159283)1 Lievens S....Tavernier J. (2009)
    7. A targeted proteomic analysis of the ubiquitin-like modifier nedd8 and associated proteins. (PubMed id 18247557)1 Jones J....Huang L. (2008)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (2006)
    10. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23403 HGNC: 25069 AceView: FBXO46 Ensembl:ENSG00000177051 euGenes: HUgn23403
    ECgene: FBXO46 H-InvDB: FBXO46

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FBXO46 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FBXO46 gene:
    Search GeneIP for patents involving FBXO46

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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