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 ... See more...

Aliases for FBL Gene

Aliases for FBL Gene

  • Fibrillarin 2 3 5
  • RRNA 2'-O-Methyltransferase Fibrillarin 3 4
  • 34 KDa Nucleolar Scleroderma Antigen 3 4
  • Histone-Glutamine Methyltransferase 3 4
  • FLRN 3 4
  • RNA, U3 Small Nucleolar Interacting Protein 1 3
  • 34-KD Nucleolar Scleroderma Antigen 3
  • EC 2.1.1.37 52
  • EC 2.1.1.- 4
  • EC 2.1.1 52
  • RNU3IP1 3
  • Nop1 3
  • FIB1 4
  • FIB 3

External Ids for FBL Gene

Previous GeneCards Identifiers for FBL Gene

  • GC19M040966
  • GC19M040716
  • GC19M045001
  • GC19M045016
  • GC19M040325
  • GC19M036772

Summaries for FBL Gene

Entrez Gene Summary for FBL Gene

  • 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]

GeneCards Summary for FBL Gene

FBL (Fibrillarin) is a Protein Coding gene. Diseases associated with FBL include Diffuse Scleroderma and Systemic Scleroderma. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include methyltransferase activity. An important paralog of this gene is FBLL1.

UniProtKB/Swiss-Prot Summary for FBL Gene

  • S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins (PubMed:24352239, PubMed:30540930). Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA (PubMed:30540930). Site specificity is provided by a guide RNA that base pairs with the substrate (By similarity). Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA (By similarity). Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239, PubMed:30540930).

Gene Wiki entry for FBL Gene

Additional gene information for FBL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBL Gene

Genomics for FBL Gene

GeneHancer (GH) Regulatory Elements for FBL Gene

Promoters and enhancers for FBL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBL

Top Transcription factor binding sites by QIAGEN in the FBL gene promoter:
  • C/EBPalpha
  • CREB
  • deltaCREB
  • MyoD

Genomic Locations for FBL Gene

Genomic Locations for FBL Gene
chr19:39,834,453-39,846,414
(GRCh38/hg38)
Size:
11,962 bases
Orientation:
Minus strand
chr19:40,325,093-40,337,054
(GRCh37/hg19)
Size:
11,962 bases
Orientation:
Minus strand

Genomic View for FBL Gene

Genes around FBL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBL Gene

Proteins for FBL Gene

  • Protein details for FBL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22087-FBRL_HUMAN
    Recommended name:
    rRNA 2'-O-methyltransferase fibrillarin
    Protein Accession:
    P22087
    Secondary Accessions:
    • B5BUE8
    • O75259
    • Q6IAT5
    • Q9UPI6

    Protein attributes for FBL Gene

    Size:
    321 amino acids
    Molecular mass:
    33784 Da
    Quaternary structure:
    • Interacts with NOLC1 (By similarity). Component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles that contain SNU13, FBL, NOP5 and NOP56, plus a guide RNA. It is associated with the U3, U8, U13, X and Y small nuclear RNAs. Component of several ribosomal and nucleolar protein complexes. Interacts with PRMT5 and UTP20. Interacts with DDX5 and C1QBP. Interacts with NOL11. Interacts with PIH1D1 (PubMed:17636026). Interacts with RRP1B (PubMed:20926688).

    Three dimensional structures from OCA and Proteopedia for FBL Gene

neXtProt entry for FBL Gene

Selected DME Specific Peptides for FBL Gene

P22087:
  • ERDHAVVVGVYRP
  • RSKLAAAI
  • RHEGVFI
  • KVLYLGA
  • VISIKANCIDST
  • WNPFRSK
  • TKNLVPG
  • PGFSPRGG
  • RIVALNA
  • ISIKANCIDSTASAEAVFASEV
  • DVAQPDQ
  • GESVYGEKR
  • LEPYERDH
  • SHVSDIV
  • ISEGDDK
  • PFRSKLA
  • VYAVEFS

Post-translational modifications for FBL Gene

  • Ubiquitinated. Ubiquitination leads to proteasomal degradation (PubMed:19208757). Deubiquitinated by USP36 (PubMed:19208757).
  • By homology to other fibrillarins, some or all of the N-terminal domain arginines are modified to asymmetric dimethylarginine (DMA).
  • Acetylated by CREBBP/CBP, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me), without affecting rRNA methylation (PubMed:30540930). Deacetylation by SIRT7 restores methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930).
  • Ubiquitination at Lys102, Lys109, Lys121, Lys131, Lys143, Lys158, Lys285, and Lys292
  • Modification sites at PhosphoSitePlus

Domains & Families for FBL Gene

Gene Families for FBL Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for FBL Gene

Blocks:
  • Fibrillarin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBL Gene

GenScript: Design optimal peptide antigens:
  • 34 kDa nucleolar scleroderma antigen (FBRL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22087

UniProtKB/Swiss-Prot:

FBRL_HUMAN :
  • Belongs to the methyltransferase superfamily. Fibrillarin family.
Family:
  • Belongs to the methyltransferase superfamily. Fibrillarin family.
genes like me logo Genes that share domains with FBL: view

Function for FBL Gene

Molecular function for FBL Gene

UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins (PubMed:24352239, PubMed:30540930). Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA (PubMed:30540930). Site specificity is provided by a guide RNA that base pairs with the substrate (By similarity). Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA (By similarity). Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239, PubMed:30540930).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-glutaminyl-[histone H2A] + S-adenosyl-L-methionine = H(+) + N(5)-methyl-L-glutaminyl-[histone H2A] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:50904, Rhea:RHEA-COMP:12837, Rhea:RHEA-COMP:12839, ChEBI:CHEBI:15378, ChEBI:CHEBI:30011, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61891; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleotide in rRNA + S-adenosyl-L-methionine = a 2'-O-methylribonucleotide in rRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:48628, Rhea:RHEA-COMP:12164, Rhea:RHEA-COMP:12165, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:90675, ChEBI:CHEBI:90676; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48629; Evidence=. ;.

Enzyme Numbers (IUBMB) for FBL Gene

Phenotypes From GWAS Catalog for FBL Gene

Gene Ontology (GO) - Molecular Function for FBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001094 TFIID-class transcription factor complex binding IPI 17636026
GO:0003723 RNA binding IBA,IEA 21873635
GO:0005515 protein binding IPI 10837141
GO:0008168 methyltransferase activity IEA --
GO:0008649 rRNA methyltransferase activity IBA 21873635
genes like me logo Genes that share ontologies with FBL: view
genes like me logo Genes that share phenotypes with FBL: view

miRNA for FBL Gene

Clone Products

  • Addgene plasmids for FBL

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBL Gene

Localization for FBL Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBL Gene

Nucleus, nucleolus. Note=Fibrillar region of the nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBL gene
Compartment Confidence
nucleus 5
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0001651 dense fibrillar component IEA --
GO:0001652 granular component IEA --
GO:0005634 nucleus IDA 22720776
GO:0005654 nucleoplasm TAS,IEA --
genes like me logo Genes that share ontologies with FBL: view

Pathways & Interactions for FBL Gene

genes like me logo Genes that share pathways with FBL: view

Gene Ontology (GO) - Biological Process for FBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000494 box C/D snoRNA 3'-end processing IBA 21873635
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006364 rRNA processing IEA,TAS --
GO:0016074 snoRNA metabolic process IEA --
GO:0031167 rRNA methylation IBA 21873635
genes like me logo Genes that share ontologies with FBL: view

No data available for SIGNOR curated interactions for FBL Gene

Drugs & Compounds for FBL Gene

(4) Drugs for FBL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for FBL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with FBL: view

Transcripts for FBL Gene

mRNA/cDNA for FBL Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for FBL

Alternative Splicing Database (ASD) splice patterns (SP) for FBL Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b
SP1: -
SP2: - - - - - -
SP3: - - - - -
SP4: - - -
SP5: -
SP6: - - -
SP7: -
SP8: - - - -
SP9: - - - -
SP10: -
SP11:
SP12: - - -

Relevant External Links for FBL Gene

GeneLoc Exon Structure for
FBL

Expression for FBL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBL Gene

Protein differential expression in normal tissues from HIPED for FBL Gene

This gene is overexpressed in Tlymphocyte (12.6), Peripheral blood mononuclear cells (9.0), and Fetal testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBL Gene



Protein tissue co-expression partners for FBL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBL

SOURCE GeneReport for Unigene cluster for FBL Gene:

Hs.299002

Evidence on tissue expression from TISSUES for FBL Gene

  • Liver(4.8)
  • Pancreas(4.7)
  • Nervous system(4)
  • Lung(3.7)
  • Skin(3.6)
  • Blood(3.3)
  • Eye(3.3)
  • Intestine(2.9)
  • Heart(2.8)
  • Muscle(2.8)
  • Spleen(2.8)
  • Kidney(2.6)
genes like me logo Genes that share expression patterns with FBL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBL Gene

Orthologs for FBL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FBL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBL 31 30
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBL 31 30
  • 92.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBL 31 30
  • 92.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbl 30
  • 90.46 (n)
mouse
(Mus musculus)
Mammalia Fbl 17 31 30
  • 90.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 82 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fbl 30
  • 76.99 (n)
MGC76139 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398434 30
zebrafish
(Danio rerio)
Actinopterygii fbl 31 30
  • 73.75 (n)
OneToMany
wufb37g12 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8635 30
fruit fly
(Drosophila melanogaster)
Insecta Fib 31 30
  • 73.53 (n)
ManyToMany
CG10909 31 32
  • 31 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011244 30
  • 71.83 (n)
worm
(Caenorhabditis elegans)
Secernentea fib-1 31 32 30
  • 70.92 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER214C 30
  • 68.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP1 33 31 30
  • 65.38 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04389g 30
  • 63.81 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FIB1 30
  • 68.46 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10016 30
rice
(Oryza sativa)
Liliopsida Os02g0821800 30
  • 67.93 (n)
corn
(Zea mays)
Liliopsida Zm.4797 30
barley
(Hordeum vulgare)
Liliopsida Hv.7320 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5018 31
  • 76 (a)
OneToMany
Cin.12364 30
bread mold
(Neurospora crassa)
Ascomycetes NCU03702 30
  • 67.78 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fib1 30
  • 65.09 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12364 30
Species where no ortholog for FBL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)