Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

FBL Gene

protein-coding   GIFtS: 67
GCID: GC19M040325

Fibrillarin

  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
fibrillarin1 2     RNA, U3 Small Nucleolar Interacting Protein 12
34 KDa Nucleolar Scleroderma Antigen2 3     RRNA 2'-O-Methyltransferase Fibrillarin2
FLRN2 3     EC 2.1.1.-3
34-KD Nucleolar Scleroderma Antigen2     FIB13
FIB2     EC 2.1.18
RNU3IP12     EC 2.1.1.378

External Ids:    HGNC: 35991   Entrez Gene: 20912   Ensembl: ENSG000001052027   OMIM: 1347955   UniProtKB: P220873   

Export aliases for FBL gene to outside databases

Previous GC identifers: GC19M040966 GC19M040716 GC19M045001 GC19M045016 GC19M036772


(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 FBL Gene:
This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to
participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small
nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains
an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other
species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from
approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. (provided by RefSeq,
Jul 2008)

GeneCards Summary for FBL Gene: 
FBL (fibrillarin) is a protein-coding gene. Diseases associated with FBL include diffuse scleroderma, and scleroderma. GO annotations related to this gene include methyltransferase activity and RNA binding. An important paralog of this gene is FBLL1.

UniProtKB/Swiss-Prot: FBRL_HUMAN, P22087
Function: Involved in pre-rRNA processing. Utilizes the methyl donor S-adenosyl-L-methionine to catalyze the
site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a
guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence
involved in base pairing with the guide RNA

Gene Wiki entry for FBL (Fibrillarin) 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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBL gene promoter:
         CREB   deltaCREB   MyoD   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBL promoter sequence
   Search SABiosciences Chromatin IP Primers for FBL

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


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M040325:  view genomic region     (about GC identifiers)

Start:
40,325,093 bp from pter      End:
40,337,054 bp from pter
Size:
11,962 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: FBRL_HUMAN, P22087 (See protein sequence)
Recommended Name: rRNA 2'-O-methyltransferase fibrillarin  
Size: 321 amino acids; 33784 Da
Subunit: Interacts with NOLC1 (By similarity). Component of box C/D small nucleolar ribonucleoprotein (snoRNP)
particles that contain NHP2L1, FBL, NOP5 and NOP56, plus a guide RNA. It is associated with the U3, U8, U13, X
and Y small nuclear RNAs. Component of several ribosomal and nucleolar protein complexes. Interacts with PRMT5
and UTP20. Interacts with DDX5 and C1QBP
Subcellular location: Nucleus, nucleolus. Note=Fibrillar region of the nucleolus
1 PDB 3D structure from and Proteopedia for FBL:
2IPX (3D)    
Secondary accessions: B5BUE8 O75259 Q6IAT5 Q9UPI6

Explore the universe of human proteins at neXtProt for FBL: NX_P22087

Explore proteomics data for FBL at MOPED 

Post-translational modifications:

  • UniProtKB: By homology to other fibrillarins, some or all of the N-terminal domain arginines are modified to asymmetric
    dimethylarginine (DMA)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P22087

  • 4/17 DME Specific Peptides for FBL (P22087) (see all 17)
     RIVALNA  RHEGVFI  ISEGDDK  DVAQPDQ 

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

    FBL Protein Expression
    REFSEQ proteins: NP_001427.2  
    ENSEMBL proteins: 
     ENSP00000472419   ENSP00000221801   ENSP00000469072   ENSP00000469249   ENSP00000472726  
     ENSP00000471350   ENSP00000471867   ENSP00000472433   ENSP00000472805  

    Human Recombinant Protein Products for FBL: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for FBL
    OriGene Protein Over-expression Lysate for FBL
    OriGene MassSpec for FBL 
    OriGene Custom Protein Services for FBL
    GenScript Custom Purified and Recombinant Proteins Services for FBL
    Novus Biologicals FBL Proteins
    Novus Biologicals FBL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for FBL
    Cloud-Clone Corp. Proteins for FBL 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001651dense fibrillar component ----
    GO:0001652granular component IEA--
    GO:0005730nucleolus IDA15494374
    GO:0015030Cajal body IDA16687569
    GO:0031428box C/D snoRNP complex NAS17636026

    FBL for ontologies           About GeneDecksing



    FBL Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for FBL 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for FBL
    GenScript Superior Antibodies for FBL
    Novus Biologicals FBL Antibodies
    Abcam antibodies for FBL
    Cloud-Clone Corp. Antibodies for FBL 
    ThermoFisher Antibody for FBL
    LSBio Antibodies in human, mouse, rat for FBL 

    Assay Products for FBL: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for FBL
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FBL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FBL 
    Cloud-Clone Corp. CLIAs for FBL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR000692 Fibrillarin
     IPR020813 Fibrillarin_CS

    Graphical View of Domain Structure for InterPro Entry P22087

    ProtoNet protein and cluster: P22087

    1 Blocks protein domain: IPB000692 Fibrillarin

    UniProtKB/Swiss-Prot: FBRL_HUMAN, P22087
    Similarity: Belongs to the methyltransferase superfamily. Fibrillarin family


    FBL 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: FBRL_HUMAN, P22087
    Function: Involved in pre-rRNA processing. Utilizes the methyl donor S-adenosyl-L-methionine to catalyze the
    site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a
    guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence
    involved in base pairing with the guide RNA

         Enzyme Numbers (IUBMB): EC 2.1.1.-1 EC 2.1.12 EC 2.1.1.372

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI10837141
    GO:0008168methyltransferase activity IEA--
    GO:0016429tRNA (adenine-N1-)-methyltransferase activity ----
         
    FBL for ontologies           About GeneDecksing


    Phenotypes:
         10 GenomeRNAi human phenotypes for FBL:
     Decreased TP53 protein express  Decreased cilium length after   Decreased viability of wild-ty  Downregulation of NF-kappaB pa 
     Downregulation of NF-kappaB pa  Increased S DNA content  Increased cell death in DLD-1   Nuclear 60S biogenesis defects 
     Nucleolar pre-40S maturation d  Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fbl):
     embryogenesis  mortality/aging 

    FBL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FBL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FBL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FBL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FBL 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FBL
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate FBL:
    hsa-miR-633 hsa-miR-924
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FBL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FBL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FBL
    Sirion Biotech Customized adenovirus for overexpression of FBL

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for FBL (see all 7)
    OriGene ORF clones in mouse, rat for FBL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FBL (NM_001436)
    Sino Biological Human cDNA Clone for FBL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBL
    Sirion Biotech Customized lentivirus for stable overexpression of FBL 
                         Customized lentivirus expression plasmids for stable overexpression of FBL 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FBL
    Search LifeMap BioReagents cell lines for FBL
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBL


    (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

    SuperPaths for FBL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway
    2Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes
    3Cytoskeletal Signaling
    Cytoskeletal Signaling
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for FBL
        Chromatin Regulation / Acetylation
    Cytoskeletal Signaling

    1 BioSystems Pathway for FBL
        TNF-alpha/NF-kB Signaling Pathway



    1         Kegg Pathway  (Kegg details for FBL):
        Ribosome biogenesis in eukaryotes


    FBL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FBL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/315 Interacting proteins for FBL (P220871, 2, 3 ENSP000002218014) via UniProtKB, MINT, STRING, and/or I2D (see all 315)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3, ENSP000003700834MINT-18105 MINT-18106 MINT-18107 I2D: score=5 STRING: ENSP00000370083
    SMN2Q166372, 3, ENSP000003701194MINT-18105 MINT-18106 MINT-18107 I2D: score=5 STRING: ENSP00000370119
    GEMIN4P576782, 3, ENSP000003217064MINT-6489539 MINT-6489355 I2D: score=1 STRING: ENSP00000321706
    UBTFP174802, 3, ENSP000003026404MINT-1894291 MINT-8373408 I2D: score=1 STRING: ENSP00000302640
    MAP3K14Q995582, 3MINT-47931 MINT-48829 I2D: score=4 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing IEA--
    GO:0008033tRNA processing IEA--
    GO:0016074snoRNA metabolic process IEA--
    GO:0030488tRNA methylation ----

    FBL 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

    FBL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FBL (FBRL)

    1 HMDB Compound for FBL    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    9 Novoseek inferred chemical compound relationships for FBL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rrna 62 7 8508778 (1), 11509571 (1), 19562966 (1), 10942594 (1) (see all 7)
    actinomycin d 61.5 9 15210063 (4), 9211978 (2), 10512052 (1), 17205309 (1) (see all 5)
    arginine 38.4 14 12523648 (3), 14583623 (1), 1846968 (1), 10518318 (1) (see all 9)
    hgcl2 33.8 4 10685806 (1), 7529293 (1)
    toluidine 19.5 1 9588897 (1)
    mercury 19.3 12 10942594 (3), 10685806 (2), 8187336 (1), 11580225 (1) (see all 5)
    nacl 0 1 10512052 (1)
    silver 0 1 9188763 (1)
    serine 0 2 16373587 (1), 18836177 (1)

    Search CenterWatch for drugs/clinical trials and news about FBL / FBRL

    (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 FBL gene: 
    NM_001436.3  

    Unigene Cluster for FBL:

    Fibrillarin
    Hs.299002  [show with all ESTs]
    Unigene Representative Sequence: BG324446
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000595545 ENST00000221801(uc002omn.3 uc002omm.1 uc002omo.2 uc010egr.3)
    ENST00000593503 ENST00000594443 ENST00000597224 ENST00000601274 ENST00000597634
    ENST00000598417 ENST00000599159 ENST00000594309 ENST00000599134
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FBL
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate FBL:
    hsa-miR-633 hsa-miR-924
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FBL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FBL
    Clone
    Products:
         
    OriGene clones in human, mouse for FBL (see all 7)
    OriGene ORF clones in mouse, rat for FBL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FBL (NM_001436)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBL
    Sirion Biotech Customized lentivirus for stable overexpression of FBL 
                         Customized lentivirus expression plasmids for stable overexpression of FBL 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FBL
    OriGene qSTAR qPCR primer pairs in human, mouse for FBL
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat FBL
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FBL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FBL

    Additional mRNA sequence: 

    AB451384.1 AK296950.1 AK308649.1 BC015218.2 BC019260.1 BC019609.1 BT006830.1 BT020144.1 
    CR457069.1 M59849.1 X56597.1 

    24/32 DOTS entries (see all 32):

    DT.97862649  DT.99926462  DT.100686044  DT.95314955  DT.92464308  DT.121421980  DT.100686046  DT.92403610 
    DT.95365934  DT.100686048  DT.100866653  DT.121421996  DT.100686042  DT.95366033  DT.100686028  DT.100686030 
    DT.102840689  DT.121422000  DT.121422060  DT.121422064  DT.75129766  DT.91892615  DT.92030034  DT.95365912 

    24/912 AceView cDNA sequences (see all 912):

    AA309748 AW007627 BU179974 BQ224978 BI860868 AI469476 BM989680 BU196048 
    BQ893018 CB139576 AA339880 AI561224 BF794031 BQ008086 BQ880833 CR626204 
    AA872423 BQ060971 BG396866 BQ689743 BE889288 AA340918 CR621210 BE616178 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for FBL (see all 12)    About this scheme

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


    ECgene alternative splicing isoforms for FBL

    (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

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


    FBL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             colon ; endothelial cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.299002
        SABiosciences Custom PCR Arrays for FBL
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FBL
    OriGene qSTAR qPCR primer pairs in human, mouse for FBL
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat FBL
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FBL
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FBL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBL

    (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 eukaryotes.

    Orthologs for FBL gene from 9/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbl1 , 5 fibrillarin1, 5 87.5(n)1
    97.81(a)1
      7 (16.67 cM)5
    141131  NM_007991.31  NP_032017.21 
     281697485 
    lizard
    (Anolis carolinensis)
    Reptilia FBL6
    Uncharacterized protein
    83(a)
    1 → many
    GL343276.1(1674857-1688249)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3984342 hypothetical protein LOC398434 75.2(n)    BC045093.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb37g122 Danio rerio cDNA clone MGC56145 IMAGE5412217, complete more 74.45(n)    BC051777.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG109093
    Fib1
    35S primary transcript processing3
    Fibrillarin1
    44(a)3
    71.03(n)1
    81.47(a)1
      87D43
    376621  NM_079093.21  NP_523817.11 
    worm
    (Caenorhabditis elegans)
    Secernentea fib-11 , 3 fibrillarin3
    Protein FIB-11
    76(a)3
    67.31(n)1
    73.31(a)1
      V(15003363-15004563)3
    1799991  NM_074290.31  NP_506691.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOP1(YDL014W)4
    NOP11
    Nucleolar protein, component of the small subunit processome more4
    Nop1p1
    63.63(n)1
    70.36(a)1
      4(427364-428347)4
    8515481, 4  NP_010270.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FIB11 rRNA 2'-O-methyltransferase fibrillarin 1 67.01(n)
    76.61(a)
      835323  NM_124626.4  NP_568772.3 
    rice
    (Oryza sativa)
    Liliopsida Os02g08218001 hypothetical protein 67.93(n)
    72.15(a)
      4331181  NM_001055088.1  NP_001048553.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBL gene
    FBLL12  
    1 SIMAP similar gene for FBL using alignment to 10 protein entries:     FBRL_HUMAN (see all proteins):
    FBLL1

    FBL for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for FBL
    PGOHUM00000245782 PGOHUM00000257133


    (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

    10/295 SNPs in FBL are shown (see all 295)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs739306531,2
    C,F--40326951(+) TTCATA/GAGTGA 1 -- int13Minor allele frequency- G:0.17WA CSA 122
    rs1898679901,2
    --40327023(+) CAGATA/GGTCAG 1 -- int10--------
    rs739306541,2
    C,F--40327103(+) GGCCCC/TTCTGT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs2016707571,2
    C--40327192(+) ACCCCG/ACACCT 1 -- int11Minor allele frequency- A:0.00EU 1313
    rs37609241,2
    C,F,H--40327312(+) TGCTAA/GGGAGA 1 -- int1 trp326Minor allele frequency- G:0.05EA NS NA 3790
    rs2006869871,2
    C--40327337(+) AAAAGC/TTGGAG 1 -- int10--------
    rs1171308591,2
    F--40327395(+) AGCAGG/ATTCCT 1 -- int11Minor allele frequency- A:0.01EA 120
    rs1807257231,2
    --40327444(+) CACTGA/GTCCCC 1 -- int10--------
    rs615201811,2
    C,F--40327513(+) TCTTGT/AAAACC 1 -- int13Minor allele frequency- A:0.10WA CSA 122
    rs1852400981,2
    --40327548(+) AGCCCC/TGGGCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for FBL (40325093 - 40337054 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FBL:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv911696CNV Loss21882294
    nsv9725CNV Gain+Loss18304495
    dgv1082e1CNV Complex17122850

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FBL
    DNA2.0 Custom Variant and Variant Library Synthesis for FBL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 134795    OMIM disorders: --

    19 diseases for FBL:    About MalaCards
    diffuse scleroderma    scleroderma    treacher collins syndrome    systemic scleroderma
    connective tissue disease    polymyositis    dermatomyositis    dyskeratosis congenita
    myositis    spinal muscular atrophy    rheumatic disease    muscular atrophy
    pulmonary fibrosis    influenza    liver disease    hepatitis
    lupus erythematosus    hepatitis c    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for FBL:
    Liver disease     Hepatitis C

    FBL for disorders           About GeneDecksing

    10/15 Novoseek inferred disease relationships for FBL gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sclerosis systemic 68.5 14 2178987 (2), 7604300 (1), 10685806 (1), 8670324 (1) (see all 11)
    other connective tissue disease 50.9 2 10685806 (1)
    myositis 48.2 1 11703380 (1)
    polymyositis 44.3 1 7604300 (1)
    telangiectasia 31.4 1 2254467 (1)
    adenovirus infections 30.7 1 7693468 (1)
    connective tissue diseases 30.2 1 7532674 (1)
    autoimmunity 23.3 4 10497068 (1), 8187336 (1), 11580225 (1), 7529293 (1)
    pulmonary fibrosis 18.8 1 12628048 (1)
    dermatomyositis 12.4 1 7604300 (1)

    Genetic Association Database (GAD): FBL
    Human Genome Epidemiology (HuGE) Navigator: FBL (3 documents)

    Export disorders for FBL 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 FBL gene, integrated from 9 sources (see all 232):
    (articles sorted by number of sources associating them with FBL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and sequencing of human fibrillarin, a conserved nucleolar protein recognized by autoimmune antisera. (PubMed id 1846968)1, 2, 3, 9 Aris J.P. and Blobel G. (1991)
    2. Evolutionary conservation of the human nucleolar protein fibrillarin and its functional expression in yeast. (PubMed id 2026646)1, 2, 3, 9 Jansen R.P....Tollervey D. (1991)
    3. Human fibrillarin forms a sub-complex with splicing factor 2- associated p32, protein arginine methyltransferases, and tubulins alpha 3 and beta 1 that is independent of its association with preribosomal ribonucleoprotein complexes. (PubMed id 14583623)1, 2, 9 Yanagida M.... Takahashi N. (2004)
    4. An intact Box C sequence in the U3 snRNA is required for binding of fibrillarin, the protein common to the major family of nucleolar snRNPs. (PubMed id 1714385)1, 2, 9 Baserga S.J.... Steitz J.A. (1991)
    5. Splicing factor 2-associated protein p32 participates in ribosome biogenesis by regulating the binding of Nop52 and fibrillarin to pre ribosome particles. (PubMed id 21536856)1, 2 Yoshikawa H....Takahashi N. (2011)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Human 1A6/DRIM, the homolog of yeast Utp20, functions in the 18S rRNA processing. (PubMed id 17498821)1, 2 Wang Y....Ke Y. (2007)
    8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    9. 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)
    10. The nuclear DEAD box RNA helicase p68 interacts with the nucleolar protein fibrillarin and colocalizes specifically in nascent nucleoli during telophase. (PubMed id 10837141)1, 2 Nicol S.M....Fuller-Pace F.V. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 2091 HGNC: 3599 AceView: FBL Ensembl:ENSG00000105202 euGenes: HUgn2091
    ECgene: FBL Kegg: 2091 H-InvDB: FBL

    (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 FBL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FBL Genetics and Cytogenetics in Oncology and Haematology

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

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for FBL  
     OriGene qPCR primer pairs and template standards for FBL   OriGene Protein Over-expression Lysate for FBL  
     OriGene MassSpec something-or-other for FBL   OriGene clones in human, mouse for FBL  
     OriGene qSTAR qPCR primer pairs in human, mouse for FBL   OriGene Purified Protein for FBL  
     OriGene ORF clones in mouse, rat for FBL   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FBL   OriGene Custom Protein Services for FBL  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FBL
     QIAGEN SeqTarget long-range PCR primers for resequencing FBL
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBL
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FBL
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FBL
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FBL
     GenScript Custom Purified and Recombinant Proteins Services for FBL GenScript cDNA clones with any tag delivered in your preferred vector for FBL
     GenScript Custom Assay Services for FBL GenScript Superior Antibodies for FBL
     GenScript Custom overexpressing Cell Line Services for FBL CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for FBL 

     Regulatory tfbs in FBL promoter
     Search Chromatin IP Primers for FBL
     RT2 qPCR Primer Assay in human, mouse / rat FBL
     GNC Network for FBL
     SABiosciences Custom PCR Arrays for FBL
     Search Tocris compounds for FBL (FBRL)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for FBL
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     FBL antibodies
     FBL proteins
     FBL lysates
     Antibodies for FBL
     See all of Abcam's Antibodies, Kits and Proteins for FBL
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for FBL




     Proteins for FBL
     Antibodies for FBL
     ELISAs for FBL
     CLIAs for FBL
     Search LifeMap BioReagents cell lines for FBL
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBL
     Browse SwitchGear 3'UTR luciferase reporter plasmids for FBL
     SwitchGear Promoter luciferase reporter plasmids for FBL
     ThermoFisher Antibody for FBL
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBL
     inGenious Targeting Laboratory - Custom generated mouse model solutions for FBL
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FBL
    Customized:
     lentivirus for stable overexpression of FBL
     lentivirus expression plasmids for stable overexpression of FBL
     adenovirus for overexpression of FBL
     LSBio Antibodies in human, mouse, rat for FBL
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      FBL gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4