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    FBL fibrillarin [ Homo sapiens (human) ]

    Gene ID: 2091, updated on 5-Sep-2021

    Summary

    Official Symbol
    FBLprovided by HGNC
    Official Full Name
    fibrillarinprovided by HGNC
    Primary source
    HGNC:HGNC:3599
    See related
    Ensembl:ENSG00000105202 MIM:134795
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FIB; FLRN; Nop1; RNU3IP1
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 114.7), bone marrow (RPKM 68.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See FBL in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (39834458..39846395, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40325098..40337019, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene leucine twenty homeobox Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 1B Neighboring gene microRNA 6719 Neighboring gene Fc fragment of IgG binding protein Neighboring gene uncharacterized LOC107987267 Neighboring gene proline rich 13 pseudogene 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables TFIID-class transcription factor complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone-glutamine methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables histone-glutamine methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables rRNA methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in box C/D RNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in histone glutamine methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in histone glutamine methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in osteoblast differentiation HDA PubMed 
    involved_in rRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in rRNA methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in rRNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in snoRNA localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Cajal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of box C/D RNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of box C/D RNP complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dense fibrillar component IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in granular component IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of small-subunit processome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    rRNA 2'-O-methyltransferase fibrillarin
    Names
    34 kDa nucleolar scleroderma antigen
    34-kD nucleolar scleroderma antigen
    RNA, U3 small nucleolar interacting protein 1
    U6 snRNA 2'-O-methyltransferase fibrillarin
    histone-glutamine methyltransferase

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001436.4NP_001427.2  rRNA 2'-O-methyltransferase fibrillarin

      See identical proteins and their annotated locations for NP_001427.2

      Status: REVIEWED

      Source sequence(s)
      BC019260, BG831506
      Consensus CDS
      CCDS12545.1
      UniProtKB/Swiss-Prot
      P22087
      Related
      ENSP00000221801.2, ENST00000221801.8
      Conserved Domains (1) summary
      PTZ00146
      Location:82320
      PTZ00146; fibrillarin; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      39834458..39846395 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258651.2XP_005258708.1  rRNA 2'-O-methyltransferase fibrillarin isoform X1

      See identical proteins and their annotated locations for XP_005258708.1

      Conserved Domains (1) summary
      PTZ00146
      Location:81319
      PTZ00146; fibrillarin; Provisional
    2. XM_011526623.2XP_011524925.1  rRNA 2'-O-methyltransferase fibrillarin isoform X2

      See identical proteins and their annotated locations for XP_011524925.1

      Related
      ENSP00000472419.1, ENST00000595545.5
      Conserved Domains (1) summary
      PTZ00146
      Location:25263
      PTZ00146; fibrillarin; Provisional

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_009646206.1 Reference GRCh38.p13 PATCHES

      Range
      94334..106255 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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