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

FBXL14 Gene

protein-coding   GIFtS: 48
GCID: GC12M001675

F-Box And Leucine-Rich Repeat Protein 14

  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)
About This Section

Aliases
F-Box And Leucine-Rich Repeat Protein 141 2 3
Fbl142
F-Box/LRR-Repeat Protein 142
FBL143

External Ids:    HGNC: 286241   Entrez Gene: 1446992   Ensembl: ENSG000001718237   OMIM: 6090815   UniProtKB: Q8N1E63   

Export aliases for FBXL14 gene to outside databases

Previous GC identifers: GC12M001546 GC12M001547 GC12M001549


(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 FBXL14 Gene:
Members of the F-box protein family, such as FBXL14, 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 FBXL14 Gene: 
FBXL14 (F-box and leucine-rich repeat protein 14) is a protein-coding gene. Diseases associated with FBXL14 include hypoxia. GO annotations related to this gene include ubiquitin-protein ligase activity and protein binding. An important paralog of this gene is FBXL2.

UniProtKB/Swiss-Prot: FXL14_HUMAN, Q8N1E6
Function: Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin-protein ligase
complexes. The SCF(FBXL14) complex acts by mediating ubiquitination and subsequent degradation of SNAI1




(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_000012.11  NC_018923.2  NT_009759.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBXL14 gene promoter:
         AhR   MyoD   C/EBPalpha   Arnt   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXL14 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBXL14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXL14


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

Entrez Gene cytogenetic band: 12p13.33   Ensembl cytogenetic band:  12p13.33   HGNC cytogenetic band: 12p13.33

FBXL14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXL14 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M001675:  view genomic region     (about GC identifiers)

Start:
1,675,159 bp from pter      End:
1,703,331 bp from pter
Size:
28,173 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: FXL14_HUMAN, Q8N1E6 (See protein sequence)
Recommended Name: F-box/LRR-repeat protein 14  
Size: 418 amino acids; 45886 Da
Subunit: Part of a SCF (SKP1-cullin-F-box) ubiquitin-protein ligase complex. Interacts with SKP1 and CUL1 (By
similarity). Interacts with SNAI1; the interaction requires the phosphorylation of the two serine residues in the
substrate destruction motif D-S-G-X(2,3,4)-S
Subcellular location: Cytoplasm

Explore the universe of human proteins at neXtProt for FBXL14: NX_Q8N1E6

Explore proteomics data for FBXL14 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N1E6

  • FBXL14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FBXL14 Protein Expression
    REFSEQ proteins: NP_689654.1  
    ENSEMBL proteins: 
     ENSP00000344855  

    Human Recombinant Protein Products for FBXL14: 
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    Cloud-Clone Corp. Proteins for FBXL14 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA19955572

    FBXL14 for ontologies           About GeneDecksing



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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: 
    FBXL: F-boxes / Leucine-rich repeats

    3 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR013101 Leu-rich_rpt_2
     IPR001810 F-box_dom_cyclin-like

    Graphical View of Domain Structure for InterPro Entry Q8N1E6

    ProtoNet protein and cluster: Q8N1E6

    UniProtKB/Swiss-Prot: FXL14_HUMAN, Q8N1E6
    Similarity: Contains 1 F-box domain
    Similarity: Contains 5 LRR (leucine-rich) repeats


    FBXL14 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FXL14_HUMAN, Q8N1E6
    Function: Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin-protein ligase
    complexes. The SCF(FBXL14) complex acts by mediating ubiquitination and subsequent degradation of SNAI1
    Induction: Down-regulated by hypoxia

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA19955572
    GO:0005515protein binding IPI19955572
         
    FBXL14 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FBXL14:
     Synthetic lethal with paclitax 

    Animal Models:
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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 FBXL14

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for FBXL14 (Q8N1E63 ENSP000003448554) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNAI1O958633, ENSP000002440504I2D: score=1 STRING: ENSP00000244050
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA19955572

    FBXL14 for ontologies           About GeneDecksing



    (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 FBXL14 (FXL14)

    Search CenterWatch for drugs/clinical trials and news about FBXL14 / FXL14

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 FBXL14 gene: 
    NM_152441.2  

    Unigene Cluster for FBXL14:

    F-box and leucine-rich repeat protein 14
    Hs.367956  [show with all ESTs]
    Unigene Representative Sequence: BC028132
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339235(uc001qjh.3) ENST00000543278
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    Additional mRNA sequence: 

    AF007128.1 BC028132.1 

    5 DOTS entries:

    DT.214954  DT.214953  DT.100745704  DT.40225682  DT.99952826 

    24/130 AceView cDNA sequences (see all 130):

    BM127210 BE501360 CA307050 BM053067 AW134908 BX099769 CR589998 BU738298 
    BU623062 BM127496 AI472033 U25905 AI458123 AA334373 AI339835 BQ008899 
    BM675576 AI340145 BM563374 W01375 CD365969 BE645081 BU739740 AA747722 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FBXL14    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b
    SP1:                          -               
    SP2:                    -     -               
    SP3:                    -                     


    ECgene alternative splicing isoforms for FBXL14

    (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

    FBXL14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTTAAAGA
    FBXL14 Expression
    About this image


    See FBXL14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBXL14

    SOURCE GeneReport for Unigene cluster: Hs.367956
        SABiosciences Expression via Pathway-Focused PCR Array including FBXL14: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FBXL14 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxl141 , 5 F-box and leucine-rich repeat protein 141, 5 94.47(n)1
    100(a)1
      6 (56.86 cM)5
    1013581  NM_133940.31  NP_598701.21 
     1194796685 
    chicken
    (Gallus gallus)
    Aves FBXL141 F-box and leucine-rich repeat protein 14 86.13(n)
    92.25(a)
      427926  XM_003640416.1  XP_003640464.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBXL146
    Uncharacterized protein
    94(a)
    1 ↔ 1
    5(12711270-12711833)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF176354.12   -- 82.74(n)    AF176354.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ppab2 partner of paired b 81.11(n)   324835  AF467462.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ppa1 partner of paired 62.81(n)
    63.24(a)
      37602  NM_079088.2  NP_523812.1 


    ENSEMBL Gene Tree for FBXL14 (if available)
    TreeFam Gene Tree for FBXL14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBXL14 gene
    FBXL22  FBXL172  FBXL202  ENSG000002371022  FBXL132  FBXL162  FBXL72  LRRC292  
    FBXL152  FBXL42  
    1 SIMAP similar gene for FBXL14 using alignment to 1 protein entry:     FXL14_HUMAN:
    FBXL2

    FBXL14 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) 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

    10/759 SNPs in FBXL14 are shown (see all 759)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1429116591,2
    C--1674692(+) TTCTTC/TGGACT 1 -- ds50010--------
    rs755714091,2
    C,F--1674752(+) TGAGAG/ATTTCA 1 -- ds50011Minor allele frequency- A:0.05EA 120
    rs1932021891,2
    --1674774(+) TGACAA/GGGTAA 1 -- ds50010--------
    rs768335671,2
    C--1674801(+) CAGGAA/GTTGTA 1 -- ds50012Minor allele frequency- G:0.07CSA EA 122
    rs1830553071,2
    --1674852(+) CTTGAC/GATGTG 1 -- ds50010--------
    rs736058661,2
    C,F--1674853(+) TTGACA/CTGTGC 1 -- ds50013Minor allele frequency- C:0.15WA 122
    rs1510723261,2
    C--1674884(+) CTTCAC/TTGATC 1 -- ds50010--------
    rs1168690411,2
    C,F--1675076(+) GATCCG/AGTTTA 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1176555831,2
    F--1675089(+) TTACAA/GAACCA 1 -- ds50011Minor allele frequency- G:0.01EA 120
    rs2022024141,2
    C--1675131(+) AGAGA-/GA/GAG
    A
    /GAGAGA
    ACAAG
    2 -- ds5001 cds10--------

    HapMap Linkage Disequilibrium report for FBXL14 (1675159 - 1703331 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for FBXL14:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658521CNV Deletion23128226
    esv1766777CNV Insertion17803354
    esv1091719CNV Insertion17803354
    esv27885CNV Loss19812545
    nsv470258CNV Gain18288195
    nsv898586CNV Gain21882294
    dgv257n67CNV Gain20364138
    nsv898584CNV Gain21882294

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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
    OMIM gene information: 609081    OMIM disorders: --

    2 diseases for FBXL14:    About MalaCards
    hypoxia    


    FBXL14 for disorders           About GeneDecksing


    Export disorders for FBXL14 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 FBXL14 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FBXL14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The hypoxia-controlled FBXL14 ubiquitin ligase target s SNAIL1 for proteasome degradation. (PubMed id 19955572)1, 2 ViA+as-Castells R....DA-az V.M. (2010)
    2. 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)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Quantitative analysis of HSP90-client interactions rev eals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (2012)
    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. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)1 Jin J....Harper J.W. (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: 144699 HGNC: 28624 AceView: FBXL14 Ensembl:ENSG00000171823 euGenes: HUgn144699
    ECgene: FBXL14 H-InvDB: FBXL14

    (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 FBXL14 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 FBXL14 gene:
    Search GeneIP for patents involving FBXL14

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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