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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

 Explore 2 diseases affiliated with
FBXL19 via our new
 Human Malady Compendium 
Biological research products
for FBXL19
    

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

Aliases
F-Box And Leucine-Rich Repeat Protein 191 2 3     F-Box/LRR-Repeat Protein 192
Fbl191 2     Jumonji C Domain-Containing Histone Demethylase 1C2
JHDM1C1 2     FBL193
DKFZp434K04101     

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:
This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein binds to the
transmembrane receptor ST2L and regulates its ubiquination 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, Nov 2012)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  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 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6PCT2

  • FBXL19 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001093254.2  NP_001258580.1  

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

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    Uscn Proteins for FBXL19


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

    FBXL19 for domains           About GeneDecksing

    5/7 InterPro domains/families (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


    (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: FXL19_HUMAN, Q6PCT2
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0008270zinc ion binding IEA--


    FBXL19 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for FBXL19:
     Low eccentricity cells 


    (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 FBXL19

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

    5/6 Interacting proteins for FBXL19 (Q6PCT23 ENSP000003696664) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM29Q141343, ENSP000003431294I2D: score=1 STRING: ENSP00000343129
    CBFA2T2O434393, ENSP000002626534I2D: score=1 STRING: ENSP00000262653
    TRIM27P143733I2D: score=1 
    COL11A1ENSP000003511634STRING: ENSP00000351163
    SKP1ENSP000002314874STRING: ENSP00000231487
    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 FBXL19
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    (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,
    RNAi Products from EMD Millipore,
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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 FBXL19 gene (3 alternative transcripts): 
    NM_001099784.2  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)


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    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 cDNA 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):

    BU185173 AA862341 NM_019085 AI280701 CA412795 AL137589 BX111140 BM129511 
    BF002009 AW027088 BC059173 AI289104 AI216337 BI196649 BQ574949 CK819711 
    AW444819 C01878 AA423891 AK098777 BQ648716 BM680919 BM764400 BM556657 

    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
    CGAP TAG: TAGGGGAGGG

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

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

    SOURCE GeneReport for Unigene cluster: Hs.152149
        SABiosciences Custom PCR Arrays for FBXL19
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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 FBXL19 gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia FBXL196
    --
    59(a)
    1 ↔ 1
    GL343220.1(1819350-1833799)
    zebrafish
    (Danio rerio)
    Actinopterygii kdm2bb6
    kdm2ba6
    lysine (K)-specific demethylase 2Ba
    42(a)
    32(a)
    possible ortholog
    1 ↔ 1
    10(43194428-43202258)
    8(42291602-42314330)
    fruit fly
    (Drosophila melanogaster)
    Insecta Kdm26
    Lysine (K)-specific demethylase 2
    9(a)
    1 → many
    3R(4878240-4888967)


    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  KDM2A2  JHDM1D2  KDM2B2  
    4 SIMAP similar genes for FBXL19 using alignment to 8 protein entries:     FXL19_HUMAN (see all proteins):
    CXXC1    KDM2A    kdm2a    KDM2B

    FBXL19 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

    10/277 NCBI SNPs in FBXL19 are shown (see all 277    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs796486081,2
    --28521499(+) GAGCCG/AAAGGG 1 -- us2k11Minor allele frequency- A:0.01EA 120
    rs727993541,2
    C--28521536(+) GTGTTA/GGGGGG 1 -- us2k10--------
    rs1413456291,2
    --30933902(+) CTGTTA/GGACTC 4 -- us2k1 nc-transcript-variant0--------
    rs1165669081,2
    C,F,--30933905(+) TTGGAC/TTCGGC 4 -- us2k1 nc-transcript-variant1Minor allele frequency- T:0.03WA 118
    rs1425926911,2
    --30933908(+) GACTCC/GGCAAG 4 -- us2k1 nc-transcript-variant0--------
    rs1882062471,2
    --30933959(+) GGCGAA/GGTCGC 4 -- us2k1 nc-transcript-variant0--------
    rs1510696831,2
    --30934013(+) CCAGAC/TGCCTG 4 -- us2k1 nc-transcript-variant0--------
    rs1927628911,2
    C,--30934049(+) CCCCGA/G/TCCCTG 5 -- us2k1 nc-transcript-variant1EU 513
    rs38130201,2
    C,F,A,H,--30934075(-) GGGGCT/CACCGG 4 -- nc-transcript-variantus2k123Minor allele frequency- C:0.40NS EA NA WA EU 2687
    rs1409733941,2
    --30934118(+) TGATAA/GACGGG 4 -- us2k1 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for FBXL19 (30934376 - 30960104 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for FBXL19
         2 CNVs: 4942 4941

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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

    FBXL19 for disorders           About GeneDecksing

    OMIM gene information: 609085    OMIM disorders: --

    2 diseases for FBXL19:    About MalaCards
    psoriatic arthritis    arthritis

    1 disease from the University of Copenhagen DISEASES database for FBXL19:
    Psoriatic arthritis
    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)
    About This Section

    PubMed articles for FBXL19 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with FBXL19)
        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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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)
    4. The Genetics of Psoriasis and Psoriatic Arthritis. (PubMed id 22274791)1 Chandran V. (2012)
    5. 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)
    6. Genome-wide association analysis identifies three pso riasis susceptibility loci. (PubMed id 20953189)1 Stuart P.E....Elder J.T. (2010)
    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. Identification and characterization of FBXL19 gene in silico. (PubMed id 15547684)1 Katoh M. and Katoh M. (2004)
    10. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (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)
    About This Section
    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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