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

FBLL1 Gene

protein-coding   GIFtS: 36
GCID: GC05P167889

Fibrillarin-Like 1

  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

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

Quality score for the ORGUL clustered with this gene is 3

Aliases
Fibrillarin-Like 11 2
EC 2.1.1.-3
EC 2.1.18

External Ids:    HGNC: 354581   Entrez Gene: 3456302   Ensembl: ENSG000001885737   UniProtKB: A6NHQ23   
ORGUL members:         
NONCODE14:n406872      

Export aliases for FBLL1 gene to outside databases

Previous GC identifer: GC05P163055


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for FBLL1 Gene: 
FBLL1 (fibrillarin-like 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with FBLL1 include systemic scleroderma, and scleroderma. GO annotations related to this gene include methyltransferase activity and RNA binding. An important paralog of this gene is FBL.

UniProtKB/Swiss-Prot: FBLL1_HUMAN, A6NHQ2
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 (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_023133.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBLL1 gene promoter:
         GCNF   FOXD1   Egr-4   PPAR-gamma1   Ik-2   FOXO4   GCNF-1   PPAR-gamma2   GCNF-2   ATF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FBLL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBLL1


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

Entrez Gene cytogenetic band: 5q34   Ensembl cytogenetic band:  5q34   HGNC cytogenetic band: 5q35.1

FBLL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBLL1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P167889:  view genomic region     (about GC identifiers)

Start:
167,956,121 bp from pter      End:
167,957,639 bp from pter
Size:
1,519 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FBLL1_HUMAN, A6NHQ2 (See protein sequence)
Recommended Name: rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1  
Size: 333 amino acids; 34675 Da
Subcellular location: Nucleus, nucleolus. Note=Fibrillar region of the nucleolus (By similarity)

Explore the universe of human proteins at neXtProt for FBLL1: NX_A6NHQ2

Explore proteomics data for FBLL1 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_A6NHQ2

  • 4/11 DME Specific Peptides for FBLL1 (A6NHQ2) (see all 11)
     RIVALNA  PFRSKLA  RHEGVFI  DVAQPDQ 

    FBLL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FBLL1 Protein Expression

    ENSEMBL proteins: 
     ENSP00000473383  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--
    GO:0030529ribonucleoprotein complex IEA--

    FBLL1 for ontologies           About GeneDecksing



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

    Graphical View of Domain Structure for InterPro Entry A6NHQ2

    ProtoNet protein and cluster: A6NHQ2

    UniProtKB/Swiss-Prot: FBLL1_HUMAN, A6NHQ2
    Similarity: Belongs to the methyltransferase superfamily. Fibrillarin family


    FBLL1 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: FBLL1_HUMAN, A6NHQ2
    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 (By similarity)

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0008168methyltransferase activity IEA--
         
    FBLL1 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FBLL1

    1 Interacting protein for FBLL1 (A6NHQ23) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR2Q927313I2D: score=1 
    About this table

    Gene Ontology (GO): 2 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--

    FBLL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FBLL1

    1 HMDB Compound for FBLL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    Search CenterWatch for drugs/clinical trials and news about FBLL1

    (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,
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    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

    Unigene Cluster for FBLL1:

    Fibrillarin-like 1
    Hs.166262  [show with all ESTs]
    Unigene Representative Sequence: NR_024356
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000338333(uc011dep.2)
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: NR_024356.2 

    1 DOTS entry:

    DT.305305 

    7 AceView cDNA sequences:

    AI968876 AW594610 BF514664 AI968817 AI970191 AI206334 AA973954 

    GeneLoc Exon Structure


    (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

    FBLL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FBLL1 Expression
    About this image


    See FBLL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBLL1

    SOURCE GeneReport for Unigene cluster: Hs.166262
        SABiosciences Custom PCR Arrays for FBLL1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLL1

    (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 FBLL1 gene from 7/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbll15 fibrillarin-like 1   --   11 (21.96 cM) 35797382 
    lizard
    (Anolis carolinensis)
    Reptilia FBL6
    Uncharacterized protein
    72(a)
    1 → many
    GL343276.1(1674857-1688249)
    zebrafish
    (Danio rerio)
    Actinopterygii fbl6
    fibrillarin
    71(a)
    1 → many
    16(44947119-44955553)
    fruit fly
    (Drosophila melanogaster)
    Insecta Fib6
    CG109096
    --
    64(a)
    32(a)
    many → 1
    possible ortholog
    2R(18960420-18962243)
    3R(8735842-8737014)
    worm
    (Caenorhabditis elegans)
    Secernentea fib-16
    rRNA 2'-O-methyltransferase fibrillarin
    56(a)
    possible ortholog
    V(15000651-15002195)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOP16
    Nucleolar protein, component of the small subunit ...
    56(a)
    1 → many
    IV(427364-428347)
    rice
    (Oryza sativa)
    Liliopsida Os.476662 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.03(n)    AK103477.1 


    ENSEMBL Gene Tree for FBLL1 (if available)
    TreeFam Gene Tree for FBLL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBLL1 gene
    FBL2  
    1 SIMAP similar gene for FBLL1 using alignment to 2 protein entries:     FBLL1_HUMAN (see all proteins):
    FBL

    FBLL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/66 SNPs in FBLL1 are shown (see all 66)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1114388961,2
    C,F--167954650(+) TCATGC/TTAGGA 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1384799381,2
    --167954833(+) TCAAGC/GCTTTG 1 -- us2k10--------
    rs1820505961,2
    --167954931(+) CATGTG/TATTGT 1 -- us2k10--------
    rs748667991,2
    C--167954951(+) CAGGTC/TCAAAA 1 -- us2k10--------
    rs766563221,2
    C,F--167954963(+) CCGCAG/AGGCCA 1 -- us2k11Minor allele frequency- A:0.10EA 120
    rs1424031681,2
    --167955000(+) AGAAAA/GAGCTG 1 -- us2k10--------
    rs614030071,2
    F--167955088(+) CTTCAA/GCTGAT 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs1845171991,2
    --167955120(+) GTAGAC/TGGCAA 1 -- us2k10--------
    rs746228721,2
    C,F--167955143(+) AATATA/GCCAAT 1 -- us2k11Minor allele frequency- G:0.06WA 118
    rs1888801341,2
    --167955166(+) CTCATA/CAAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FBLL1 (167956121 - 167957639 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FBLL1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FBLL1
    DNA2.0 Custom Variant and Variant Library Synthesis for FBLL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    5 diseases for FBLL1:    About MalaCards
    systemic scleroderma    scleroderma    hepatitis c    liver disease
    hepatitis

    3 diseases from the University of Copenhagen DISEASES database for FBLL1:
    Systemic scleroderma     Liver disease     Hepatitis C

    FBLL1 for disorders           About GeneDecksing


    Export disorders for FBLL1 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 FBLL1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FBLL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    3. Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
    4. Identification of SUMOylated proteins in neuroblastoma cells after treatment with hydrogen peroxide or ascorbate. (PubMed id 21110914)1 Grant M.M. (2010)
    5. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    6. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 345630 HGNC: 35458 AceView: LOC345630 Ensembl:ENSG00000188573 euGenes: HUgn345630
    ECgene: FBLL1 H-InvDB: FBLL1

    (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
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FBLL1 gene:
    Search GeneIP for patents involving FBLL1

    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

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

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    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 


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