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FBXL18 Gene

protein-coding   GIFtS: 47
GCID: GC07M005470

F-Box And Leucine-Rich Repeat Protein 18

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(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 And Leucine-Rich Repeat Protein 181 2 3
FBL183 5
Fbl182
F-Box/LRR-Repeat Protein 182

External Ids:    HGNC: 218741   Entrez Gene: 800282   Ensembl: ENSG000001550347   OMIM: 6090845   UniProtKB: Q96ME13   

Export aliases for FBXL18 gene to outside databases

Previous GC identifers: GC07M005217 GC07M005244 GC07M005437 GC07M005428


(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 FBXL18 Gene:
Members of the F-box protein family, such as FBXL18, 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)

GeneCards Summary for FBXL18 Gene:
FBXL18 (F-box and leucine-rich repeat protein 18) is a protein-coding gene.

UniProtKB/Swiss-Prot: FXL18_HUMAN, Q96ME1
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBXL18 gene promoter:
         SRF   Sp1   p53   SRF (504 AA)   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FBXL18 promoter sequence
   Search Chromatin IP Primers for FBXL18

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXL18


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

Entrez Gene cytogenetic band: 7p22.2   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p22.2

FBXL18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXL18 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M005470:  view genomic region     (about GC identifiers)

Start:
5,470,966 bp from pter      End:
5,553,429 bp from pter
Size:
82,464 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 5,561,782-5,599,744     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FXL18_HUMAN, Q96ME1 (See protein sequence)
Recommended Name: F-box/LRR-repeat protein 18  
Size: 805 amino acids; 88341 Da
Subunit: Directly interacts with SKP1 and CUL1 (By similarity)
Sequence caution: Sequence=BAB13838.1; Type=Erroneous initiation;
Secondary accessions: Q9BR90 Q9BTC7 Q9HAK7
Alternative splicing: 4 isoforms:  Q96ME1-1   Q96ME1-2   Q96ME1-3   Q96ME1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FBXL18: NX_Q96ME1

Explore proteomics data for FBXL18 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FBXL18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079239.3  
    ENSEMBL proteins: 
     ENSP00000415064   ENSP00000371805   ENSP00000405896   ENSP00000444797  

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    Cloud-Clone Corp. Proteins for FBXL18

     
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    antibodies-online proteins for FBXL18 (3 products) 

     
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    antibodies-online antibodies for FBXL18 (19 products) 

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    Cloud-Clone Corp. ELISAs for FBXL18
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    antibodies-online kits for FBXL18 (14 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FBXL: F-boxes / Leucine-rich repeats

    1 InterPro protein domain:
     IPR001810 F-box_dom

    Graphical View of Domain Structure for InterPro Entry Q96ME1

    ProtoNet protein and cluster: Q96ME1

    UniProtKB/Swiss-Prot: FXL18_HUMAN, Q96ME1
    Similarity: Contains 1 F-box domain
    Similarity: Contains 12 LRR (leucine-rich) repeats


    Find genes that share domains with FBXL18           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: FXL18_HUMAN, Q96ME1
    Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex
    (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with FBXL18           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FBXL18:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FBXL18
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FBXL18
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FBXL18

    miRNA
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    miRTarBase miRNAs that target FBXL18:
    hsa-mir-484 (MIRT042025), hsa-mir-124-3p (MIRT022552), hsa-mir-193b-3p (MIRT041358), hsa-mir-16-5p (MIRT031644)

    Block miRNA regulation of human, mouse, rat FBXL18 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FBXL18 (see all 25):
    hsa-miR-2110 hsa-miR-29a hsa-miR-29c hsa-miR-503 hsa-miR-4299 hsa-miR-3692 hsa-miR-103a hsa-miR-3150a-3p
    SwitchGear 3'UTR luciferase reporter plasmidFBXL18 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1
    peroxisome1
    plasma membrane1

    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including FBXL18: 
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for FBXL18

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

    5 Interacting proteins for FBXL18 (Q96ME13 ENSP000003718054) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRTAP4-12Q9BQ663, ENSP000003775824I2D: score=3 STRING: ENSP00000377582
    PLSCR1O151623, ENSP000003454944I2D: score=3 STRING: ENSP00000345494
    CALCOCO2Q131373, ENSP000002589474I2D: score=3 STRING: ENSP00000258947
    MDFIENSP000002303214STRING: ENSP00000230321
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 FBXL18 (FXL18)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FBXL18 gene: 
    NM_024963.4  

    Unigene Cluster for FBXL18:

    F-box and leucine-rich repeat protein 18
    Hs.623974  [show with all ESTs]
    Unigene Representative Sequence: NM_024963
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000415009 ENST00000382368(uc003son.4) ENST00000458142 ENST00000453700(uc003soo.2)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FBXL18 (see all 25):
    hsa-miR-2110 hsa-miR-29a hsa-miR-29c hsa-miR-503 hsa-miR-4299 hsa-miR-3692 hsa-miR-103a hsa-miR-3150a-3p
    SwitchGear 3'UTR luciferase reporter plasmidFBXL18 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat FBXL18
      QuantiFast Probe-based Assays in human, mouse, rat FBXL18

    Additional mRNA sequence: 

    AK001638.1 AK021529.1 AK095394.1 AK130444.1 AK294949.1 AL137434.1 BC004228.1 BC013435.1 
    BC015445.1 BC042819.1 

    7 DOTS entries:

    DT.97837119  DT.40300832  DT.92419503  DT.75149743  DT.100755491  DT.91836448  DT.91815495 

    Selected AceView cDNA sequences (see all 51):

    AK021529 BF513031 BC024256 BC006426 CO246006 BU526785 BX283358 AL137434 
    BM928513 BQ647930 BQ081965 AU117545 NM_024963 AK095394 BE277573 CB266781 
    BF568161 BX437479 BC004228 BU541592 AK057042 BQ682240 BQ918369 BC013435 

    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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    FBXL18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAAAATTT
    FBXL18 Expression
    About this image

    FBXL18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBXL18 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.623974
        Pathway & Disease-focused RT2 Profiler PCR Array including FBXL18: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXL18

    (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 FBXL18 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxl181 , 5 F-box and leucine-rich repeat protein 181, 5 86.73(n)1
    92.15(a)1
      5 (81.79 cM)5
    2318631  NM_001033312.31  NP_001028484.21 
     1428669465 
    chicken
    (Gallus gallus)
    Aves FBXL181 F-box and leucine-rich repeat protein 18 74.84(n)
    79.01(a)
      416484  NM_001012786.1  NP_001012804.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBXL186
    F-box and leucine-rich repeat protein 18
    74(a)
    1 ↔ 1
    GL344051.1(49246-74985)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fbxl181 F-box and leucine-rich repeat protein 18 63.3(n)
    67.11(a)
      100492578  XM_002931499.2  XP_002931545.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fbxl181 F-box and leucine-rich repeat protein 18 58.31(n)
    54.9(a)
      570298  NM_001030245.1  NP_001025416.1 


    ENSEMBL Gene Tree for FBXL18 (if available)
    TreeFam Gene Tree for FBXL18 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBXL18 gene
    1 SIMAP similar gene for FBXL18 using alignment to 4 protein entries:     FXL18_HUMAN (see all proteins):
    CCDC53

    Find genes that share paralogs with FBXL18           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FBXL18 (see all 992)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1502702991,2
    --5514936(+) CGACAC/GAGCAA 1 -- int10--------
    rs1389465391,2
    --5514976(+) AAAATA/GAACAA 1 -- int10--------
    rs1493399641,2
    C--5515028(+) GACTCA/GGCCCT 1 -- int10--------
    rs1436648591,2
    --5515115(+) CTGCAA/CAACCG 1 -- int10--------
    rs1884502711,2
    --5515192(+) TGGCCC/TCCCCA 1 -- int10--------
    rs733375531,2
    C,F--5515270(+) TTGTGT/CCTCCA 1 -- int12Minor allele frequency- C:0.11WA 120
    rs1810846051,2
    --5515317(+) AGCACA/GGCACC 1 -- int10--------
    rs1383220291,2
    --5515323(+) GCACCC/TGCCCC 1 -- int10--------
    rs44002911,2
    C,H--5515337(+) CCATCT/GGAAGT 1 -- int111Minor allele frequency- G:0.05WA NA CSA EA 373
    rs1837095221,2
    --5515338(+) CATCGG/TAAGTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for FBXL18 (5470966 - 5553429 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FBXL18 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2733912CNV Deletion23290073
    esv2671867CNV Deletion23128226
    nsv436904CNV Insertion17901297
    nsv830890CNV Loss17160897
    nsv471304CNV Loss18288195
    nsv887411CNV Loss21882294
    nsv887413CNV Loss21882294
    nsv887412CNV Loss21882294
    nsv887410CNV Loss21882294
    nsv517558CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FBXL18
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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.)
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    OMIM gene information: 609084    OMIM disorders: --


    Find genes that share disorders with FBXL18           About GenesLikeMe

    Genetic Association Database (GAD): FBXL18

    Export disorders for FBXL18 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 FBXL18 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with FBXL18)
        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. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. (PubMed id 24068947)1 Brandler W.M....Paracchini S. (PLoS Genet. 2013)
    4. Parallel SCF adaptor capture proteomics reveals a role for SCFFBXL17 in NRF2 activation via BACH1 repressor turnover. (PubMed id 24035498)1 Tan M.K....Harper J.W. (Mol. Cell 2013)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80028 HGNC: 21874 AceView: FBXL18 Ensembl:ENSG00000155034 euGenes: HUgn80028
    ECgene: FBXL18 H-InvDB: FBXL18

    (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 FBXL18 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FBXL18 gene:
    Search GeneIP for patents involving FBXL18

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



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