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FBLL1 Gene

protein-coding   GIFtS: 35
GCID: GC05P167956

Fibrillarin-Like 1

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(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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Aliases
Fibrillarin-Like 11 2
EC 2.1.1.-3
Protein-Glutamine Methyltransferase3
EC 2.1.18

External Ids:    HGNC: 354581   Entrez Gene: 3456302   Ensembl: ENSG000001885737   UniProtKB: A6NHQ23   

Export aliases for FBLL1 gene to outside databases

Previous GC identifers: GC05P167889 GC05P163055


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FBLL1 Gene:
FBLL1 (fibrillarin-like 1) is a protein-coding gene. 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: 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. Also acts as a protein methyltransferase by mediating methylation of glutamine
residues (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_023133.14  
Regulatory elements:
   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 Chromatin IP Primers for FBLL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC05P167956:  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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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

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

Explore proteomics data for FBLL1 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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FBLL1 (A6NHQ2) (see all 11)
     RIVALNA  PFRSKLA  RHEGVFI  DVAQPDQ 


    See FBLL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000473383  

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    (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 A6NHQ2

    ProtoNet protein and cluster: A6NHQ2

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


    Find genes that share domains with FBLL1           About GenesLikeMe


    (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,
    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: FBLL1_HUMAN, A6NHQ2
    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. Also acts as a protein methyltransferase by mediating methylation of glutamine
    residues (By similarity)

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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0008168methyltransferase activity IEA--
         
    Find genes that share ontologies with FBLL1           About GenesLikeMe


    Animal Models:
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    (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
    FBLL1_HUMAN, A6NHQ2: Nucleus, nucleolus. Note=Fibrillar region of the nucleolus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular3
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with FBLL1           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBLL1
    Interactions:

        Search GeneGlobe Interaction Network 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing IEA--
    GO:0008033tRNA processing IEA--

    Find genes that share ontologies with FBLL1           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 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--



    (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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    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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    Additional mRNA sequence: NR_024356.2 

    1 DOTS entry:

    DT.305305 

    7 AceView cDNA sequences:

    AI968876 AW594610 AI970191 AI968817 AI206334 BF514664 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™, 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)
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    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

    FBLL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBLL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.166262
        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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FBLL1 gene from Selected 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 --
    Uncharacterized protein
    72(a)
    1 → many
    GL343276.1(1674857-1688249)
    zebrafish
    (Danio rerio)
    Actinopterygii fbl6
    fibrillarin
    69(a)
    1 → many
    16(44947119-44955553) ENSDARG00000053912
    fruit fly
    (Drosophila melanogaster)
    Insecta Fib6
    CG109096
    --
    67(a)
    32(a)
    many ↔ many
    many ↔ many
    2R(18960420-18962243)
    3R(8735842-8737014)
    worm
    (Caenorhabditis elegans)
    Secernentea fib-16
    Protein FIB-1 (fib-1) mRNA, complete cds
    58(a)
    1 → many
    V(15000651-15002195) WBGene00001423
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOP16
    Nucleolar protein, component of the small subunit ...
    58(a)
    1 → many
    IV(427364-428347) YDL014W
    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)
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    Paralogs for FBLL1 gene
    FBL2  
    1 SIMAP similar gene for FBLL1 using alignment to 2 protein entries:     FBLL1_HUMAN (see all proteins):
    FBL

    Find genes that share paralogs with FBLL1           About GenesLikeMe



    (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 FBLL1 (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: --
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    3 diseases from the University of Copenhagen DISEASES database for FBLL1:
    Systemic scleroderma     Liver disease     Hepatitis C

    Find genes that share disorders with FBLL1           About GenesLikeMe


    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)
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    PubMed articles for FBLL1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FBLL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Integrative analysis of the ubiquitin proteome isolated using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (J Proteomics 2012)
    2. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    3. Identification of SUMOylated proteins in neuroblastoma cells after treatment with hydrogen peroxide or ascorbate. (PubMed id 21110914)1 Grant M.M. (BMB Rep 2010)
    4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    5. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 345630 HGNC: 35458 AceView: LOC345630 Ensembl:ENSG00000188573 euGenes: HUgn345630
    ECgene: FBLL1 H-InvDB: FBLL1

    (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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      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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