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FBL fibrillarin [ Homo sapiens (human) ]

Gene ID: 2091, updated on 27-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
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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
  • 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)

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

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