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FBL fibrillarin [ Homo sapiens (human) ]

Gene ID: 2091, updated on 6-Jan-2019

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

Genomic context

See FBL in Genome Data Viewer
Location:
19q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (39834453..39846414, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40325093..40337054, 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Major pathway of rRNA processing in the nucleolus and cytosol, organism-specific biosystem (from REACTOME)
    Major pathway of rRNA processing in the nucleolus and cytosol, organism-specific biosystemIn humans, a 47S precursor rRNA (pre-rRNA) is transcribed by RNA polymerase I from rRNA-encoding genes (rDNA) at the boundary of the fibrillar center and the dense fibrillar components of the nucleol...
  • Ribosome biogenesis in eukaryotes, organism-specific biosystem (from KEGG)
    Ribosome biogenesis in eukaryotes, organism-specific biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
  • Ribosome biogenesis in eukaryotes, conserved biosystem (from KEGG)
    Ribosome biogenesis in eukaryotes, conserved biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
  • rRNA modification in the nucleus and cytosol, organism-specific biosystem (from REACTOME)
    rRNA modification in the nucleus and cytosol, organism-specific biosystemHuman ribosomal RNAs (rRNAs) contain about 200 residues that are enzymatically modified after transcription in the nucleolus (Maden and Khan 1977, Maden 1988, Maden and Hughes 1997, reviewed in Herna...
  • rRNA processing, organism-specific biosystem (from REACTOME)
    rRNA processing, organism-specific biosystemEach eukaryotic cytosolic ribosome contains 4 molecules of RNA: 28S rRNA (25S rRNA in yeast), 5.8S rRNA, and 5S rRNA in the 60S subunit and 18S rRNA in the 40S subunit. The 18S rRNA, 5.8S rRNA, and 2...
  • rRNA processing in the nucleus and cytosol, organism-specific biosystem (from REACTOME)
    rRNA processing in the nucleus and cytosol, organism-specific biosystemEach eukaryotic cytosolic ribosome contains 4 molecules of RNA: 28S rRNA (25S rRNA in yeast), 5.8S rRNA, and 5S rRNA in the 60S subunit and 18S rRNA in the 40S subunit. The 18S rRNA, 5.8S rRNA, and 2...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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, ENST00000221801.7
    Conserved Domains (1) summary
    PTZ00146
    Location:82320
    PTZ00146; fibrillarin; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    39834453..39846414 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

    Related
    ENSP00000472726.1, ENST00000601274.5
    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.p12 PATCHES

Genomic

  1. NW_009646206.1 Reference GRCh38.p12 PATCHES

    Range
    94329..106290 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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