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    FBL fibrillarin [ Homo sapiens (human) ]

    Gene ID: 2091, updated on 3-Nov-2024

    Summary

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    Official Symbol
    FBLprovided by HGNC
    Official Full Name
    fibrillarinprovided by HGNC
    Primary source
    HGNC:HGNC:3599
    See related
    Ensembl:ENSG00000105202 MIM:134795; AllianceGenome:HGNC:3599
    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
    mouse all
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    Genomic context

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    See FBL in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39834458..39846379, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42639380..42651301, complement)
    RS_2024_09 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 uncharacterized LOC124904719 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40314468-40315454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40315455-40316439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10613 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10614 Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 1B Neighboring gene microRNA 6719 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40335824-40336564 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:40357069-40358268 Neighboring gene Fc gamma binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40376357-40376858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40433231-40433732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:40449389-40449889 Neighboring gene proline rich 13 pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Proteasome-dependent processing of nuclear proteins is correlated with their subnuclear localization. Dino Rockel T, et al. J Struct Biol, 2002 Oct-Dec. PMID 12490167
    2. Systemic sclerosis (scleroderma): specific autoantigen genes are selectively overexpressed in scleroderma fibroblasts. Zhou X, et al. J Immunol, 2001 Dec 15. PMID 11739535
    3. Fibrillarin Ribonuclease Activity is Dependent on the GAR Domain and Modulated by Phospholipids. Guillen-Chable F, et al. Cells, 2020 May 6. PMID 32384686, Free PMC Article
    4. U3 snoRNP associates with fibrillarin a component of the scleroderma clumpy nucleolar domain. Herrera-Esparza R, et al. Arch Dermatol Res, 2002 Oct. PMID 12373336
    5. Phase transition of fibrillarin LC domain regulates localization and protein interaction of fibrillarin. Kim E, et al. Biochem J, 2021 Feb 26. PMID 33522570

    See all (281) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fibrillarin reprograms glucose metabolism by driving the enhancer-mediated transcription of PFKFB4 in liver cancer.
      Title: Fibrillarin reprograms glucose metabolism by driving the enhancer-mediated transcription of PFKFB4 in liver cancer.
    2. FBL promotes cancer cell resistance to DNA damage and BRCA1 transcription via YBX1.
      Title: FBL promotes cancer cell resistance to DNA damage and BRCA1 transcription via YBX1.
    3. Current research on viral proteins that interact with fibrillarin.
      Title: Current research on viral proteins that interact with fibrillarin.
    4. A PRC2-independent function for EZH2 in regulating rRNA 2'-O methylation and IRES-dependent translation.
      Title: A PRC2-independent function for EZH2 in regulating rRNA 2'-O methylation and IRES-dependent translation.
    5. Phase transition of fibrillarin LC domain regulates localization and protein interaction of fibrillarin.
      Title: Phase transition of fibrillarin LC domain regulates localization and protein interaction of fibrillarin.
    6. Fibrillarin Ribonuclease Activity is Dependent on the GAR Domain and Modulated by Phospholipids.
      Title: Fibrillarin Ribonuclease Activity is Dependent on the GAR Domain and Modulated by Phospholipids.
    7. This is the first report on the clinical aspect of ribosome biogenesis in pediatric BCP-ALL [B-cell precursor acute lymphoblastic leukemia ], and it shows that overexpression of CMYC and C/D box nucleoproteins FBL and NOP56 is an antecedent event in patients who subsequently relapse.
      Title: Analysis of the rRNA methylation complex components in pediatric B-cell precursor acute lymphoblastic leukemia: A pilot study.
    8. SIRT7-dependent deacetylation impacts nucleolar activity by an FBL-driven circuitry that mediates cell-cycle-dependent fluctuation of ribosomal DNA transcription.
      Title: SIRT7-Dependent Deacetylation of Fibrillarin Controls Histone H2A Methylation and rRNA Synthesis during the Cell Cycle.
    9. Fibrillarin acts as a central node in a regulatory network engaged in imparting immunity against bacterial pathogens.
      Title: Nucleolar fibrillarin is an evolutionarily conserved regulator of bacterial pathogen resistance.
    10. Nucleolar Methyltransferase Fibrillarin: Evolution of Structure and Functions.
      Title: Nucleolar Methyltransferase Fibrillarin: Evolution of Structure and Functions.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    enables TFIID-class transcription factor complex binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables U6 snRNA 2'-O-ribose methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AQ104 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H2AQ104 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
    		  
    Process Evidence Code Pubs
    involved_in box C/D sno(s)RNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in osteoblast differentiation HDA PubMed 
    involved_in rRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    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
    		  
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of box C/D methylation guide snoRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of box C/D methylation guide snoRNP complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    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
    		  
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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
    NP_001427.2
    XP_005258708.1
    XP_011524925.1
    XP_054176162.1
    XP_054176163.1
    XP_054187609.1
    XP_054187610.1

    NCBI Reference Sequences (RefSeq)

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    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_001436.4 → NP_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
      B5BUE8, O75259, P22087, Q6IAT5, Q9UPI6
      UniProtKB/TrEMBL
      B4DLD4
      Related
      ENSP00000221801.2, ENST00000221801.8
      Conserved Domains (1) summary
      PTZ00146
      Location:82 → 320
      PTZ00146; fibrillarin; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      39834458..39846379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526623.3 → XP_011524925.1  rRNA 2'-O-methyltransferase fibrillarin isoform X2

      See identical proteins and their annotated locations for XP_011524925.1

      UniProtKB/TrEMBL
      Q8WUT5, Q96BS4
      Related
      ENSP00000472419.1, ENST00000595545.5
      Conserved Domains (1) summary
      PTZ00146
      Location:25 → 263
      PTZ00146; fibrillarin; Provisional

    2. XM_005258651.3 → XP_005258708.1  rRNA 2'-O-methyltransferase fibrillarin isoform X1

      See identical proteins and their annotated locations for XP_005258708.1

      UniProtKB/TrEMBL
      B4DLD4
      Related
      ENSP00000472726.1, ENST00000601274.5
      Conserved Domains (1) summary
      PTZ00146
      Location:81 → 319
      PTZ00146; fibrillarin; Provisional

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646206.1 Reference GRCh38.p14 PATCHES

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

    mRNA and Protein(s)

    1. XM_054331635.1 → XP_054187610.1  rRNA 2'-O-methyltransferase fibrillarin isoform X2

    2. XM_054331634.1 → XP_054187609.1  rRNA 2'-O-methyltransferase fibrillarin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      42639380..42651301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320188.1 → XP_054176163.1  rRNA 2'-O-methyltransferase fibrillarin isoform X2

    2. XM_054320187.1 → XP_054176162.1  rRNA 2'-O-methyltransferase fibrillarin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P22087.2 GenPept UniProtKB/Swiss-Prot:P22087

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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