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FBL Gene

protein-coding   GIFtS: 69
GCID: GC19M040325

Fibrillarin

  See FBL-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
fibrillarin1 2     RNA, U3 Small Nucleolar Interacting Protein 12
Histone-Glutamine Methyltransferase2 3     RRNA 2'-O-Methyltransferase Fibrillarin2
34 KDa Nucleolar Scleroderma Antigen2 3     EC 2.1.1.-3
FLRN2 3     FIB13
34-KD Nucleolar Scleroderma Antigen2     EC 2.1.18
FIB2     EC 2.1.1.378
RNU3IP12     

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

Export aliases for FBL gene to outside databases

Previous GC identifers: GC19M040966 GC19M040716 GC19M045001 GC19M045016 GC19M036772


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for 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: S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and
proteins. Involved in pre-rRNA processing by catalyzing 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.
Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a
modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus
(PubMed:24352239)

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for FBL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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. Interacts with NOL11
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: 

  • By homology to other fibrillarins, some or all of the N-terminal domain arginines are modified to asymmetric
    dimethylarginine (DMA)1
  • Ubiquitination2 at Lys102, Lys109, Lys121, Lys131, Lys143, Lys158, Lys285, Lys292
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FBL (P22087) (see all 17)
     RIVALNA  RHEGVFI  ISEGDDK  DVAQPDQ 


    See FBL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    FBL Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for FBL

     
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    antibodies-online proteins for FBL (13 products) 

     
    antibodies-online peptides for FBL

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    antibodies-online antibodies for FBL (75 products) 

    FBL Assay Products:

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    antibodies-online kits for FBL (20 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with FBL           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: FBRL_HUMAN, P22087
    Function: S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and
    proteins. Involved in pre-rRNA processing by catalyzing 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.
    Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a
    modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus
    (PubMed:24352239)
    Catalytic activity: S-adenosyl-L-methionine + L-glutamine-[histone] = S-adenosyl-L-homocysteine +
    N(5)-methyl-L-glutamine-[histone]

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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS1846968
    GO:0005515protein binding IPI10837141
    GO:0008168methyltransferase activity ----
    GO:0016429tRNA (adenine-N1-)-methyltransferase activity ----
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with FBL           About GenesLikeMe


    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 

    Find genes that share phenotypes with FBL           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FBL

    miRNA
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    miRTarBase miRNAs that target FBL:
    hsa-mir-20a-5p (MIRT050515), hsa-mir-181b-5p (MIRT047276), hsa-mir-324-5p (MIRT043089)

    Block miRNA regulation of human, mouse, rat FBL using miScript Target Protectors
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    hsa-miR-633 hsa-miR-924
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Sino Biological Human cDNA Clone for FBL
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBL
    Addgene plasmids for FBL 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FBRL_HUMAN, P22087: Nucleus, nucleolus. Note=Fibrillar region of the nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular3
    cytosol2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001652granular component IEA--
    GO:0005730nucleolus IDA15494374
    GO:0015030Cajal body IDA16687569
    GO:0031428box C/D snoRNP complex NAS17636026
    GO:0031515tRNA (m1A) methyltransferase complex ----

    Find genes that share ontologies with FBL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    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


    Find genes that share SuperPaths with FBL           About GenesLikeMe

    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBL
    Interactions:

        GeneGlobe Interaction Network for FBL

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

    Selected Interacting proteins for FBL (P220871, 2, 3 ENSP000002218014) via UniProtKB, MINT, STRING, and/or I2D (see all 548)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3, ENSP000003700834MINT-18105 MINT-18106 MINT-18107 I2D: score=5 STRING: ENSP00000370083
    GEMIN4P576782, 3, ENSP000003217064MINT-6489539 MINT-6489355 I2D: score=1 STRING: ENSP00000321706
    PRMT5O147442, 3, ENSP000003191694MINT-6489539 MINT-6489355 I2D: score=1 STRING: ENSP00000319169
    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): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing IEA--
    GO:0008033tRNA processing IEA--
    GO:0016074snoRNA metabolic process IEA--
    GO:0030488tRNA methylation ----
    GO:1990258histone glutamine methylation IDA--

    Find genes that share ontologies with FBL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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)



    Find genes that share compounds with FBL           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for 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
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    hsa-miR-633 hsa-miR-924
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat FBL
      QuantiTect SYBR Green Assays in human, mouse, rat FBL
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 912):

    BQ962970 CB118724 BU174458 BG122044 BQ688559 BG830461 BE018123 BE297393 
    BU845828 BQ936516 BI860868 AA489817 BM667716 AW007627 BC019260 CD742844 
    BU168704 CR592096 BQ691398 BQ933340 BU180696 CB219000 BM054843 AA339880 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    FBL expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mandibular Condyle
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    FBL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.299002
        Custom PCR Arrays for FBL
    Primer
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FBL gene from Selected 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 90.04(n)1
    100(a)1
      7 (16.67 cM)5
    141131  NM_007991.31  NP_032017.21 
     281697485 
    lizard
    (Anolis carolinensis)
    Reptilia --
    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
    73.53(n)1
    82.35(a)1
      87D43
    376621  NM_079093.31  NP_523817.11 
    worm
    (Caenorhabditis elegans)
    Secernentea fib-11 , 3 fibrillarin3
    fib-11
    76(a)3
    70.92(n)1
    75.74(a)1
      V(15003363-15004563)3
    1799991  NM_074290.41  NP_506691.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOP1(YDL014W)4
    NOP11
    Nucleolar protein, component of the small subunit processome more4
    NOP11
    65.38(n)1
    72.1(a)1
      4(427364-428347)4
    8515481, 4  NP_010270.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FIB11 FIB1 68.46(n)
    78.42(a)
      835323  NM_124626.4  NP_568772.3 
    rice
    (Oryza sativa)
    Liliopsida Os02g08218001 Os02g0821800 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)
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    Paralogs for FBL gene
    FBLL12  
    1 SIMAP similar gene for FBL using alignment to 10 protein entries:     FBRL_HUMAN (see all proteins):
    FBLL1

    Find genes that share paralogs with FBL           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FBL (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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 134795    OMIM disorders: --

    2 diseases for FBL:    
    About MalaCards
    diffuse scleroderma    scleroderma

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

    Find genes that share disorders with FBL           About GenesLikeMe

    Selected 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)
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    PubMed articles for FBL gene, integrated from 10 sources (see all 239):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 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. (J. Cell Biol. 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. (J. Biol. Chem. 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. (EMBO J. 1991)
    5. Splicing factor 2-associated protein p32 participates in ribosome biogenesis by regulating the binding of Nop52 and fibrillarin to preribosome particles. (PubMed id 21536856)1, 2 Yoshikawa H....Takahashi N. (Mol. Cell. Proteomics 2011)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Biochim. Biophys. Acta 2007)
    8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 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. (Genome Res. 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. (Exp. Cell Res. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2091 HGNC: 3599 AceView: FBL Ensembl:ENSG00000105202 euGenes: HUgn2091
    ECgene: FBL Kegg: 2091 H-InvDB: FBL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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



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