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

FBXO48 Gene

protein-coding   GIFtS: 34
GCID: GC02M068689

F-Box Protein 48

  Search for FBXO48
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
F-Box Protein 481 2
F-Box Only Protein 482
FBX483

External Ids:    HGNC: 338571   Entrez Gene: 5542512   Ensembl: ENSG000002049237   UniProtKB: Q5FWF73   

Export aliases for FBXO48 gene to outside databases

Previous GC identifers: GC02M068544 GC02M068426


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

GeneCards Summary for FBXO48 Gene: 
FBXO48 (F-box protein 48) is a protein-coding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBXO48 gene promoter:
         E2F-4   E2F-3a   E2F-5   Pax-5   HSF1 (long)   E2F-2   AP-2gamma   E2F   E2F-1   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXO48 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBXO48

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXO48


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

Entrez Gene cytogenetic band: 2p13.3   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p13.3

FBXO48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXO48 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M068689:  view genomic region     (about GC identifiers)

Start:
68,689,486 bp from pter      End:
68,694,390 bp from pter
Size:
4,905 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FBX48_HUMAN, Q5FWF7 (See protein sequence)
Recommended Name: F-box only protein 48  
Size: 155 amino acids; 18241 Da

Explore the universe of human proteins at neXtProt for FBXO48: NX_Q5FWF7

Explore proteomics data for FBXO48 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5FWF7

  • FBXO48 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FBXO48 Protein Expression
    REFSEQ proteins: NP_001019851.1  
    ENSEMBL proteins: 
     ENSP00000367193  

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

    1 InterPro protein domain:
     IPR001810 F-box_dom_cyclin-like

    Graphical View of Domain Structure for InterPro Entry Q5FWF7

    ProtoNet protein and cluster: Q5FWF7

    UniProtKB/Swiss-Prot: FBX48_HUMAN, Q5FWF7
    Similarity: Contains 1 F-box domain


    FBXO48 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    FBXO48 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FBXO48

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 FBXO48 (FBX48)

    Search CenterWatch for drugs/clinical trials and news about FBXO48 / FBX48

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FBXO48 gene: 
    NM_001024680.1  

    Unigene Cluster for FBXO48:

    F-box protein 48
    Hs.164117  [show with all ESTs]
    Unigene Representative Sequence: BC089423
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000377957(uc002seo.3)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidFBXO48 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    BC089423.1 DQ904332.1 

    1 DOTS entry:

    DT.75187215 

    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

    FBXO48 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATGTTATT
    FBXO48 Expression
    About this image


    See FBXO48 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.164117
        SABiosciences Custom PCR Arrays for FBXO48
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXO48

    (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 FBXO48 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 Fbxo481 , 5 F-box protein 481, 5 81.94(n)1
    75.48(a)1
      11 (9.41 cM)5
    3197011  NM_176982.21  NP_795956.11 
     169513755 
    chicken
    (Gallus gallus)
    Aves FBXO481 F-box protein 48 64.07(n)
    57.79(a)
      421265  XM_419336.3  XP_419336.2 
    lizard
    (Anolis carolinensis)
    Reptilia FBXO486
    Uncharacterized protein
    67(a)
    1 ↔ 1
    1(126740007-126745627)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005378831 f-box only protein 48-like 59.47(n)
    59.2(a)
      100537883  XM_003197724.1  XP_003197772.1 


    ENSEMBL Gene Tree for FBXO48 (if available)
    TreeFam Gene Tree for FBXO48 (if available)

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

    (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) 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

    10/81 SNPs in FBXO48 are shown (see all 81)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1122080741,2
    C,F--68689038(+) TGGCGG/AGCGCC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1905130881,2
    --68689142(+) AGCCTA/GGGTGA 1 -- int10--------
    rs1129928831,2
    C--68689153(+) CAGAGC/TGAGAC 1 -- int11Minor allele frequency- T:0.00CSA 1
    rs1808520421,2
    --68689207(+) CCCCCA/CACCCC 1 -- int10--------
    rs2022362941,2
    --68689216(+) CGGCC-/AAAAAA 1 -- int10--------
    rs1849163411,2
    C--68689233(+) CACACG/TTGGTT 1 -- int10--------
    rs1393211251,2
    --68689404(+) AAAATG/TCTTAT 1 -- int10--------
    rs1896747541,2
    --68689447(+) CAAGTA/GCTTTC 1 -- int10--------
    rs2017944281,2
    --68689497(+) CTTCC-/TTTTTT 1 -- spd10--------
    rs1826958251,2
    --68689512(+) GAGACC/GAAGTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FBXO48 (68689486 - 68694390 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FBXO48: --
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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 FBXO48 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FBXO48)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic analysis of the FBXO48 gene in Chinese Han pat ients with Parkinson disease. (PubMed id 23485738)1 Xiu X....Deng H. (2013)
    2. Genome-wide meta-analysis identifies novel multiple sc lerosis susceptibility loci. (PubMed id 22190364)1 Patsopoulos N.A....de Bakker P.I. (2011)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    5. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 554251 HGNC: 33857 Ensembl:ENSG00000204923 euGenes: HUgn554251 ECgene: FBXO48
    H-InvDB: FBXO48

    (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 FBXO48 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 FBXO48 gene:
    Search GeneIP for patents involving FBXO48

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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
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    About This Section

     
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     Proteins for FBXO48
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     Search LifeMap BioReagents cell lines for FBXO48
     Gene Synthesis
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXO48
     SwitchGear 3'UTR luciferase reporter plasmids for FBXO48
     SwitchGear Promoter luciferase reporter plasmids for FBXO48
     Search ThermoFisher Antibodies for FBXO48
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBXO48
     inGenious Targeting Laboratory - Custom generated mouse model solutions for FBXO48
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FBXO48
    Customized:
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     lentivirus expression plasmids for stable overexpression of FBXO48
     adenovirus for overexpression of FBXO48
     Search LSBio for Antibodies for FBXO48
    Customized transgenic rodents for:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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