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

FBXL19 Gene

protein-coding   GIFtS: 47
GCID: GC16P030934

F-Box And Leucine-Rich Repeat Protein 19

  See related diseases
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 191 2 3
Jumonji C Domain-Containing Histone Demethylase 1C1 2
Fbl192
JHDM1C2
F-Box/LRR-Repeat Protein 192
FBL193

External Ids:    HGNC: 253001   Entrez Gene: 546202   Ensembl: ENSG000000993647   OMIM: 6090855   UniProtKB: Q6PCT23   

Export aliases for FBXL19 gene to outside databases

Previous GC identifers: GC16P030970 GC16P030841 GC16P030843 GC16P028498


(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 FBXL19 Gene:
This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is
reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and
degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Aug 2013)

GeneCards Summary for FBXL19 Gene: 
FBXL19 (F-box and leucine-rich repeat protein 19) is a protein-coding gene. Diseases associated with FBXL19 include psoriatic arthritis, and psoriasis. GO annotations related to this gene include DNA binding and zinc ion binding. An important paralog of this gene is PHF2.

UniProtKB/Swiss-Prot: FXL19_HUMAN, Q6PCT2
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBXL19 gene promoter:
         NF-1   AP-4   CUTL1   STAT5A   E47   CREB   deltaCREB   ARP-1   Hand1   Zic3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FBXL19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXL19


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

FBXL19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXL19 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P030934:  view genomic region     (about GC identifiers)

Start:
30,934,376 bp from pter      End:
30,960,104 bp from pter
Size:
25,729 bases      Orientation:
plus 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: FXL19_HUMAN, Q6PCT2 (See protein sequence)
Recommended Name: F-box/LRR-repeat protein 19  
Size: 694 amino acids; 75707 Da
Subunit: Directly interacts with SKP1 and CUL1 (By similarity)
Caution: It is uncertain whether Met-1 or Met-21 is the initiator
Sequence caution: Sequence=AAH59173.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAC05410.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8MT10 Q8N789 Q9NT14
Alternative splicing: 3 isoforms:  Q6PCT2-1   Q6PCT2-2   Q6PCT2-3   

Explore the universe of human proteins at neXtProt for FBXL19: NX_Q6PCT2

Explore proteomics data for FBXL19 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6PCT2

  • FBXL19 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FBXL19 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001093254.2  NP_001269280.1  NP_001258580.1  

    ENSEMBL proteins: 
     ENSP00000455871   ENSP00000458033   ENSP00000339712   ENSP00000455529   ENSP00000454344  
     ENSP00000397913   ENSP00000455337   ENSP00000457199   ENSP00000369666  

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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

    5/7 InterPro protein domains (see all 7):
     IPR001965 Znf_PHD
     IPR013083 Znf_RING/FYVE/PHD
     IPR002857 Znf_CXXC
     IPR001810 F-box_dom_cyclin-like
     IPR019786 Zinc_finger_PHD-type_CS

    Graphical View of Domain Structure for InterPro Entry Q6PCT2

    ProtoNet protein and cluster: Q6PCT2

    UniProtKB/Swiss-Prot: FXL19_HUMAN, Q6PCT2
    Similarity: Contains 1 CXXC-type zinc finger
    Similarity: Contains 1 F-box domain
    Similarity: Contains 6 LRR (leucine-rich) repeats
    Similarity: Contains 1 PHD-type zinc finger


    FBXL19 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: FXL19_HUMAN, Q6PCT2
    Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex
    (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    FBXL19 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FBXL19:
     Low eccentricity cells 

    Animal Models:
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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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 FBXL19

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

    5/10 Interacting proteins for FBXL19 (Q6PCT23 ENSP000003696664) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000215641P143733I2D: score=1 
    ENSG00000229006P143733I2D: score=1 
    ENSG00000234495P143733I2D: score=1 
    ENSG00000237071P143733I2D: score=1 
    TRIM27P143733I2D: score=1 
    About this table

    (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 FBXL19 (FXL19)

    Search CenterWatch for drugs/clinical trials and news about FBXL19 / FXL19

    (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 FBXL19 gene (4 alternative transcripts): 
    NM_001099784.2  NM_001282351.1  NM_001271651.1  NM_019085.1  

    Unigene Cluster for FBXL19:

    F-box and leucine-rich repeat protein 19
    Hs.152149  [show with all ESTs]
    Unigene Representative Sequence: NM_001099784
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000562798 ENST00000471231(uc002dzz.1) ENST00000338343 ENST00000562319
    ENST00000565690 ENST00000427128 ENST00000566320 ENST00000565939 ENST00000380310(uc002eab.2 uc002eaa.1)

    miRNA
    Products:
         
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    8/59 QIAGEN miScript miRNA Assays for microRNAs that regulate FBXL19 (see all 59):
    hsa-let-7d hsa-miR-765 hsa-miR-200a hsa-miR-1260b hsa-let-7a-2* hsa-miR-3074-3p hsa-miR-138-2* hsa-let-7g
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    Additional mRNA sequence: 

    AK127701.1 AK302669.1 AL137589.1 BC032391.1 BC048811.1 BC059173.1 NR_073401.1 

    4 DOTS entries:

    DT.40261115  DT.95110062  DT.70103185  DT.87011836 

    24/186 AceView cDNA sequences (see all 186):

    BM726312 AW027088 CK819711 BQ648716 BC059173 BI196649 AI216337 AA862341 
    CK819710 BM904282 BU185173 BE222694 AA423891 AI280701 BM764400 AI289104 
    BG677581 C01878 BX111140 BM556657 AA515878 BM129511 AK127701 BQ574949 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for FBXL19 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12
    SP1:              -     -                                                                                                   
    SP2:                                                                          -                                             
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                        -               


    ECgene alternative splicing isoforms for FBXL19

    (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

    FBXL19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGGGGAGGG
    FBXL19 Expression
    About this image


    See FBXL19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBXL19

    SOURCE GeneReport for Unigene cluster: Hs.152149
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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 and fungi.

    Orthologs for FBXL19 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxl191 , 5 F-box and leucine-rich repeat protein 191, 5 89.66(n)1
    97.48(a)1
      7 (69.71 cM)5
    2339021  NM_172748.21  NP_766336.21 
     1277467755 
    lizard
    (Anolis carolinensis)
    Reptilia FBXL196
    Uncharacterized protein
    63(a)
    1 ↔ 1
    GL343220.1(1809604-1833799)
    zebrafish
    (Danio rerio)
    Actinopterygii FBXL196
    F-box and leucine-rich repeat protein 19
    34(a)
    1 ↔ 1
    19(49818040-49821123)
    fruit fly
    (Drosophila melanogaster)
    Insecta Kdm26
    Lysine (K)-specific demethylase 2
    13(a)
    1 → many
    3R(4878240-4888967)
    worm
    (Caenorhabditis elegans)
    Secernentea jmjd-1.16
    jmjd-1.26
    Lysine-specific demethylase 7 homolog
    2(a)
    2(a)
    possible ortholog
    possible ortholog
    II(11806567-11808829)
    IV(4660991-4665208)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes JHD16
    JmjC domain family histone demethylase specific fo...
    2(a)
    1 → many
    V(254656-256134)


    ENSEMBL Gene Tree for FBXL19 (if available)
    TreeFam Gene Tree for FBXL19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBXL19 gene
    PHF22  PHF82  JHDM1D2  KDM2A2  KDM2B2  
    3 SIMAP similar genes for FBXL19 using alignment to 8 protein entries:     FXL19_HUMAN (see all proteins):
    CXXC1    KDM2A    KDM2B

    FBXL19 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

    10/337 SNPs in FBXL19 are shown (see all 337)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs727993411,2
    C,F--30936743(+) AAGGAG/ACTCCG 3 -- int15Minor allele frequency- A:0.12NA CSA WA EA 362
    rs1496200871,2
    C--30937144(+) TGCCGG/TGCCTG 5 R syn10--------
    rs1807451181,2
    C--30937201(+) AAGTTC/TGGGGG 5 F syn10--------
    rs1449048011,2
    C--30937348(+) TGGCT-/GGGGG 
            
    GTTTG
    3 -- int10--------
    rs747666021,2
    C--30937350(+) GGCTGG/TTTGTT 3 -- int10--------
    rs80505881,2
    C,F,A,H--30937799(+) GGATCG/AGGGAA 3 -- int123Minor allele frequency- A:0.42NS EA NA WA CSA 2348
    rs1120512301,2
    F--30938055(+) GATCCC/TGCCGC 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs791348831,2
    C--30938126(+) CCCCAC/TTTCCC 3 -- int11Minor allele frequency- T:0.01NA 120
    rs1898241131,2
    --30938358(+) CTACAC/TATCAG 3 -- int10--------
    rs1471518111,2
    C--30938544(+) CATCCA/GTCACC 3 -- int10--------

    HapMap Linkage Disequilibrium report for FBXL19 (30934376 - 30960104 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for FBXL19:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv35n68CNV Loss17160897
    nsv833189CNV Loss17160897
    nsv905738CNV Loss21882294
    nsv457483CNV Loss19166990
    dgv2671n71CNV Loss21882294
    nsv905729CNV Loss21882294
    nsv905733CNV Loss21882294
    dgv2670n71CNV Loss21882294

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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: 609085    OMIM disorders: --

    3 diseases for FBXL19:    About MalaCards
    psoriatic arthritis    psoriasis    arthritis

    1 disease from the University of Copenhagen DISEASES database for FBXL19:
    Psoriatic arthritis

    FBXL19 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FBXL19
    Human Genome Epidemiology (HuGE) Navigator: FBXL19 (1 document)

    Export disorders for FBXL19 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 FBXL19 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with FBXL19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association analysis identifies three pso riasis susceptibility loci. (PubMed id 20953189)1, 4 Stuart P.E....Elder J.T. (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. F-box protein FBXL19-mediated ubiquitination and degra dation of the receptor for IL-33 limits pulmonary inflammation. (PubMed id 22660580)1 Zhao J....Zhao Y. (2012)
    5. The Genetics of Psoriasis and Psoriatic Arthritis. (PubMed id 22274791)1 Chandran V. (2012)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. Identification and characterization of FBXL19 gene in silico. (PubMed id 15547684)1 Katoh M. and Katoh M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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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: 54620 HGNC: 25300 AceView: FBXL19andMGC13024 Ensembl:ENSG00000099364 euGenes: HUgn54620
    ECgene: FBXL19 H-InvDB: FBXL19

    (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 FBXL19 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 FBXL19 gene:
    Search GeneIP for patents involving FBXL19

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



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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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